☆ 4.4 Review

Genetics of amyotrophic lateral sclerosis: seeking therapeutic targets in the era of gene therapy

JOURNAL OF HUMAN GENETICS (2023)

相关参考文献

注意：仅列出部分参考文献，下载原文获取全部文献信息。

Review Clinical Neurology

A review of Mendelian randomization in amyotrophic lateral sclerosis

Thomas H. Julian et al.

Summary: Mendelian randomization studies on amyotrophic lateral sclerosis show a causal link between blood lipids and the disease risk, while factors like smoking and immune function require further investigation for confirmation. The use of high methodological standards and replication across different datasets are essential for reliable results in Mendelian randomization studies.

BRAIN (2022)

添加到收藏夹

Editorial Material Clinical Neurology

The importance of offering early genetic testing in everyone with amyotrophic lateral sclerosis

Kristiana Salmon et al.

BRAIN (2022)

添加到收藏夹

Review Cell & Tissue Engineering

iPSC-based disease modeling and drug discovery in cardinal neurodegenerative disorders

Hideyuki Okano et al.

Summary: This review outlines the advances in iPSC modeling and therapeutic development for major neurodegenerative diseases, including amyotrophic lateral sclerosis, Parkinson's disease, and Alzheimer's disease.

CELL STEM CELL (2022)

添加到收藏夹

Article Clinical Neurology

Composite endpoint for ALS clinical trials based on patient preference: Patient-Ranked Order of Function (PROOF)

Ruben P. A. van Eijk et al.

Summary: ALS patients have diverse preferences and needs, leading to the development of a new endpoint (PROOF) that focuses on patient function improvement. It provides a patient-centered analysis to refine risk-benefit assessment of new treatments for ALS.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2022)

添加到收藏夹

Article Biochemistry & Molecular Biology

Antisense oligonucleotide silencing of FUS expression as a therapeutic approach in amyotrophic lateral sclerosis

Vladislav A. Korobeynikov et al.

Summary: This study demonstrates that an antisense oligonucleotide can effectively lower the levels of FUS protein in mice and in a patient with FUS-dependent ALS. The research provides evidence that the insolubility of FUS and related RNA-binding proteins contribute to neurodegeneration in ALS-FTD. Silencing FUS using a non-allele-specific antisense oligonucleotide delays motor neuron degeneration in a disease-relevant mouse model and reduces the burden of FUS aggregates in ALS patients.

NATURE MEDICINE (2022)

添加到收藏夹

Article Biochemistry & Molecular Biology

Suppression of mutant C9orf72 expression by a potent mixed backbone antisense oligonucleotide

Helene Tran et al.

Summary: The study successfully generated and optimized ASOs that blunt the G(4)C(2) repeat-containing transcripts in the C9ORF72 gene, demonstrating potential therapeutic efficacy for patients with ALS and FTD.

NATURE MEDICINE (2022)

添加到收藏夹

Article Neurosciences

Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines

Emily G. Baxi et al.

Summary: Answer ALS is a resource that includes patient-derived iPS cell lines, multi-omic data from iPS neurons, and clinical and smartphone data from over 1,000 ALS patients. This data can be used to identify distinct disease subgroups in ALS.

NATURE NEUROSCIENCE (2022)

添加到收藏夹

Editorial Material Biochemistry & Molecular Biology

Pathological phase transitions in ALS-FTD impair dynamic RNA-protein granules

Natalia B. Nedelsky et al.

Summary: Genetics of human disease plays a crucial role in understanding cellular processes and vulnerabilities associated with dysfunction. The genetics of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) have revealed the role of biomolecular condensation in organizing cellular contents and its link to neurodegeneration.

RNA (2022)

添加到收藏夹

Article Multidisciplinary Sciences

SOD1 mutations associated with amyotrophic lateral sclerosis analysis of variant severity

Mariusz Berdynski et al.

Summary: The study investigated the relations between SOD1 mutations and clinical presentation in ALS patients, identifying significant correlations between SOD1 mutations and clinical phenotype as well as associations between different types of mutations and clinical outcomes.

SCIENTIFIC REPORTS (2022)

添加到收藏夹

Article Genetics & Heredity

Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis

Ahmad Al Khleifat et al.

Summary: There is a strong genetic contribution to the risk of Amyotrophic lateral sclerosis (ALS), with heritability estimates of up to 60%. Variants in ALS genes, including repeat expansion in C9orf72, inversion in VCP, and insertion in ERBB4, have been identified as associated with ALS risk and specific disease phenotypes.

NPJ GENOMIC MEDICINE (2022)

添加到收藏夹

Article Clinical Neurology

De novo mutations in SOD1 are a cause of ALS

Kathrin Muller et al.

Summary: De novo mutations in SOD1 have been identified as a cause of sporadic ALS, potentially impacting both isolated cases and smaller familial groups. While the exact origin of these mutations remains uncertain, the findings suggest the importance of genetic counseling and screening for all ALS patients to potentially benefit from personalized therapy.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2022)

添加到收藏夹

Article Multidisciplinary Sciences

TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A

Anna-Leigh Brown et al.

Summary: Risk variants in the synaptic gene UNC13A are associated with increased risk of ALS and FTD. These variants lead to the inclusion of a cryptic exon in UNC13A when TDP-43 is depleted, resulting in the loss of UNC13A protein. Two common UNC13A polymorphisms strongly associated with ALS and FTD risk overlap with TDP-43 binding sites.

NATURE (2022)

添加到收藏夹

Article Multidisciplinary Sciences

TDP-43 represses cryptic exon inclusion in the FTD-ALS gene UNC13A

X. Rosa Ma et al.

Summary: A hallmark feature of ALS and FTD is the depletion of RNA-binding protein TDP-43 from neurons, and a major function of TDP-43 is to repress cryptic exon inclusion. UNC13A gene polymorphisms are strongly associated with FTD and ALS, and this study shows that loss of TDP-43 leads to cryptic exon splicing in UNC13A. The top genetic risk factors for FTD and ALS (UNC13A genetic variants) are shown to be functionally linked to TDP-43 dysfunction.

NATURE (2022)

添加到收藏夹

Article Geriatrics & Gerontology

Genetic and functional analysis of KIF5A variants in Japanese patients with sporadic amyotrophic lateral sclerosis

Ryoichi Nakamura et al.

Summary: Two recent genetic studies found that loss-of-function mutation of the C-terminal cargo-binding tail domain of the KIF5A gene cause amyotrophic lateral sclerosis (ALS). This study in Japanese patients with sporadic ALS identified a novel loss-of-function variant in KIF5A, highlighting its rare occurrence as a cause of ALS.

NEUROBIOLOGY OF AGING (2021)

添加到收藏夹

Article Biology

ALS-related FUS mutations alter axon growth in motoneurons and affect HuD/ELAVL4 and FMRP activity

Maria Giovanna Garone et al.

Summary: The study found that mutations in the FUS gene are associated with ALS, affecting the activity of two RBPs related to neuronal RNA metabolism. Mutant FUS increases HuD protein levels by competing with FMRP for HuD mRNA binding, leading to excessive stability of its target gene transcript levels. Mutant FUS motoneurons exhibit increased axon branching and growth, potentially representing early events in ALS pathogenesis.

COMMUNICATIONS BIOLOGY (2021)

添加到收藏夹

Article Clinical Neurology

Mitochondrial bioenergetic deficits in C9orf72 amyotrophic lateral sclerosis motor neurons cause dysfunctional axonal homeostasis

Arpan R. Mehta et al.

Summary: The study found that axonal dysfunction in C9orf72-ALS patients is associated with shorter axons, impaired mitochondrial transport, and altered mitochondrial bioenergetics, indicating that mitochondrial dysfunction is a key factor in axonal dysfunction. Increasing mitochondrial biogenesis through genetic manipulation can correct the bioenergetic deficit and rescue axonal length and transport phenotypes.

ACTA NEUROPATHOLOGICA (2021)

添加到收藏夹

Review Biotechnology & Applied Microbiology

Current Clinical Applications of In Vivo Gene Therapy with AAVs

Jerry R. Mendell et al.

Summary: Hereditary diseases are caused by gene mutations, affecting millions of Americans, and gene therapy using adeno-associated virus (AAV) has shown promise in treating these diseases. Five treatments have been approved for commercialization, with many more in clinical trials, showcasing the potential of gene therapy in treating a wide range of genetic disorders.

MOLECULAR THERAPY (2021)

添加到收藏夹

Review Neurosciences

The functional organization of axonal mRNA transport and translation

Irene Dalla Costa et al.

Summary: Recent publications have revealed new mechanisms for regulating axonal transport and localized translation of mRNA, converging on RNA regulons that drive various axonal functions. These different regulatory pathways act as organizing platforms to modulate the axon's proteome to meet its physiological needs.

NATURE REVIEWS NEUROSCIENCE (2021)

添加到收藏夹

Article Clinical Neurology

Mutational Analysis of Known ALS Genes in an Italian Population-Based Cohort

Maurizio Grassano et al.

Summary: Our study assessed the burden of rare genetic variants and estimated the contribution of known ALS genes in an Italian population-based cohort through whole genome sequencing. We identified potential disease-causing variants in 11.9% of ALS patients and confirmed the strong association of rare variants in SOD1 with the disease. We also found that the contribution of rare variants in other known ALS genes to disease risk in our cohort is limited.

NEUROLOGY (2021)

添加到收藏夹

Review Biochemistry & Molecular Biology

The Role of Nucleocytoplasmic Transport Defects in Amyotrophic Lateral Sclerosis

Joni Vanneste et al.

Summary: There is evidence suggesting that nucleocytoplasmic-transport deficits may be important in the pathogenesis of ALS, but current data are limited in clarifying the exact causal and temporal role. Understanding this will be significant for therapeutically targeting nucleocytoplasmic transport and associated proteins.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)

添加到收藏夹

Article Clinical Neurology

Effect of Ezogabine on Cortical and Spinal Motor Neuron Excitability in Amyotrophic Lateral Sclerosis A Randomized Clinical Trial

Brian J. Wainger et al.

Summary: This study found that ezogabine can decrease cortical and spinal motor neuron excitability in patients with ALS, indicating the potential use of neurophysiological metrics as pharmacodynamic biomarkers in multi-site clinical trials.

JAMA NEUROLOGY (2021)

添加到收藏夹

Review Neurosciences

Searching Far and Genome-Wide: The Relevance of Association Studies in Amyotrophic Lateral Sclerosis

Kelly A. Rich et al.

Summary: GWAS and RVAS are used to analyze genetic variation in complex diseases, identifying variants and biological pathways associated with disease status. However, the novel associations identified by these methods typically have lower effect sizes and have not yet led to new therapeutic interventions.

FRONTIERS IN NEUROSCIENCE (2021)

添加到收藏夹

Article Clinical Neurology

Safety and efficacy of oral levosimendan in people with amyotrophic lateral sclerosis (the REFALS study) : a randomised, double-blind, placebo-controlled phase 3 trial

Merit Cudkowicz et al.

Summary: The study found that levosimendan was not superior to placebo in maintaining respiratory function in a broad population with amyotrophic lateral sclerosis. While generally well tolerated, levosimendan had a higher frequency of adverse events such as increased heart rate and headache compared to placebo. Further evaluation is needed to determine if there is a clinically relevant subgroup that may respond to the drug.

LANCET NEUROLOGY (2021)

添加到收藏夹

Article Genetics & Heredity

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Wouter van Rheenen et al.

Summary: A cross-ancestry genome-wide association meta-analysis of amyotrophic lateral sclerosis (ALS) identified 15 risk loci with distinct genetic architectures and neuron-specific biology. The study emphasized the urgent need for disease-modifying therapies for ALS. High cholesterol levels were suggested to have a causal role in the onset of ALS, among other environmental and lifestyle risk factors.

NATURE GENETICS (2021)

添加到收藏夹

Article Neurosciences

Circulating miR-181 is a prognostic biomarker for amyotrophic lateral sclerosis

Iddo Magen et al.

Summary: The study identified miRNA-based biomarkers in the blood of ALS patients, with miR-181 levels alone or in combination with established protein biomarkers predicting disease severity and prognosis. This approach may enhance the power of clinical trials for ALS and improve patient stratification accuracy.

NATURE NEUROSCIENCE (2021)

添加到收藏夹

Article Neurosciences

Multi-omic analysis of selectively vulnerable motor neuron subtypes implicates altered lipid metabolism in ALS

Hojae Lee et al.

Summary: By comparing human induced pluripotent stem cell-derived spinal and ocular motor neurons, researchers identified low levels of a natural 5-lipoxygenase inhibitor in ALS spinal motor neurons and found that analogs of 5-lipoxygenase inhibitors can improve ALS phenotypes. Multi-omics analysis revealed shared metabolic perturbations in ALS spinal motor neurons, specifically dysregulation in lipid metabolism, which was confirmed through targeted metabolomics. These findings highlight a potential therapeutic target in lipid metabolism for ALS.

NATURE NEUROSCIENCE (2021)

添加到收藏夹

News Item Biotechnology & Applied Microbiology

ALS antisense drug falters in phase III

Asher Mullard

Summary: The SOD1-antisense oligonucleotide tofersen, developed by Biogen and Ionis, failed a phase III trial, prompting concerns about the drug's future and the direction of ALS trials to come.

NATURE REVIEWS DRUG DISCOVERY (2021)

添加到收藏夹

Review Biochemistry & Molecular Biology

Secreted Signaling Molecules at the Neuromuscular Junction in Physiology and Pathology

Bisei Ohkawara et al.

Summary: This review focuses on secreted signaling molecules that regulate the clustering of acetylcholine receptors (AChRs) at the neuromuscular junction (NMJ), including neural agrin, Lrp4, MuSK, Rspo2, Fgf18, and Ctgf. These molecules play crucial roles in ensuring efficient signal transduction at the NMJ.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)

添加到收藏夹

Article Clinical Neurology

Value of systematic genetic screening of patients with amyotrophic lateral sclerosis

Stephanie R. Shepheard et al.

Summary: Routine genetic sequencing in a cohort of 100 ALS patients revealed that 21% carried pathogenic or likely pathogenic mutations, with 93% lacking family history. An additional 21% had variants of uncertain significance in ALS-associated genes. The presence of multiple genetic variants in known ALS-linked genes may impact disease onset age.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2021)

添加到收藏夹

Article Multidisciplinary Sciences

Comprehensive in silico analysis and molecular dynamics of the superoxide dismutase 1 (SOD1) variants related to amyotrophic lateral sclerosis

Gabriel Rodrigues Coutinho Pereira et al.

Summary: ALS is a common motor neuron disorder with no cure, and missense mutations in SOD1 can have harmful effects on protein structure and function, contributing to the development of the disease.

PLOS ONE (2021)

添加到收藏夹

Article Cell Biology

Ribonuclease recruitment using a small molecule reduced c9ALS/FTD r(G4C2) repeat expansion in vitro and in vivo ALS models

Jessica A. Bush et al.

Summary: The study developed a small molecule for targeted degradation of the G(4)C(2) RNA repeat associated with c9ALS/FTD, demonstrating selective reduction of mutant alleles and toxic proteins.

SCIENCE TRANSLATIONAL MEDICINE (2021)

添加到收藏夹

Article Multidisciplinary Sciences

Axonal TDP-43 condensates drive neuromuscular junction disruption through inhibition of local synthesis of nuclear encoded mitochondrial proteins

Topaz Altman et al.

Summary: Mislocalization of TDP-43 in axons of ALS patients leads to the assembly of G3BP1-positive RNP condensates, inhibiting local protein synthesis in distal axons and NMJs.

NATURE COMMUNICATIONS (2021)

添加到收藏夹

Article Biology

Control of neurotransmitter release by two distinct membrane-binding faces of the Munc13-1 C1C2B region

Marcial Camacho et al.

Summary: The C-1-C2B region of Munc13-1 plays a central role in neurotransmitter release, with distinct faces controlling release and short-term presynaptic plasticity. Mutations in the polybasic face severely impair Ca2+-independent liposome bridging and fusion, while mutations in Ca2+-binding loops have milder effects and can enhance or impair Ca2+-evoked release.

ELIFE (2021)

添加到收藏夹

Review Biochemistry & Molecular Biology

Proteostatic imbalance and protein spreading in amyotrophic lateral sclerosis

Maria Elena Cicardi et al.

Summary: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder with complex pathological mechanisms involving the seeding and transmission of pathological proteins. Evidence suggests that the rapid propagation of these proteins along the neural axis contributes to the fast progression of ALS. This review highlights the behavior of ALS-associated proteins like SOD1, FUS, TDP-43, and C9orf72-linked dipeptide repeats in the disease, discussing their potential as biomarkers and implications for future research.

EMBO JOURNAL (2021)

添加到收藏夹

Review Cell Biology

Parkin beyond Parkinson's Disease-A Functional Meaning of Parkin Downregulation in TDP-43 Proteinopathies

Katarzyna Gaweda-Walerych et al.

Summary: Parkin depletion is associated with early onset Parkinson's disease as well as other neurodegenerative diseases like ALS and FTLD. This indicates its connection with TDP-43 protein and potential functional implications.

CELLS (2021)

添加到收藏夹

Article Clinical Neurology

Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial

John W. Day et al.

Summary: The study evaluated the safety and efficacy of onasemnogene abeparvovec gene therapy in symptomatic patients with infantile-onset spinal muscular atrophy. Results showed that patients achieved independent sitting and survival rates without permanent ventilation at certain time points, with a favorable benefit-risk profile supporting the use of onasemnogene abeparvovec for treatment of this condition.

LANCET NEUROLOGY (2021)

添加到收藏夹

Review Biotechnology & Applied Microbiology

Gene therapy for ALS: A review

Defne A. Amado et al.

Summary: ALS has historically been challenging for gene therapy due to a lack of therapeutic targets and difficulty accessing the brain and spinal cord. Recent advances in disease mechanism understanding, ALS genetics, and CNS targeting, along with progress in gene delivery and editing techniques, have opened new therapeutic possibilities. Gene therapy clinical trials are underway for ALS patients with various genetic mutations, showing potential for disease-modifying treatment.

MOLECULAR THERAPY (2021)

添加到收藏夹

Article Biochemistry & Molecular Biology

Altered perivascular fibroblast activity precedes ALS disease onset

Anna Manberg et al.

Summary: The study suggests that increased activity of perivascular fibroblast cells and vascular remodeling early in ALS pathogenesis can predict patient survival time. Elevated levels of SPP1 in plasma at disease diagnosis are a stronger predictor of shorter survival in ALS patients than established risk factors.

NATURE MEDICINE (2021)

添加到收藏夹

Article Neurosciences

Unbiased Label-Free Quantitative Proteomics of Cells Expressing Amyotrophic Lateral Sclerosis (ALS) Mutations in CCNF Reveals Activation of the Apoptosis Pathway: A Workflow to Screen Pathogenic Gene Mutations

Flora Cheng et al.

Summary: In the past decade, there has been a rapid increase in the discovery of new genetic causes of ALS, with over 20 genes now implicated. These genes encode proteins with various molecular functions that contribute to the understanding of ALS pathogenesis. One challenge in ALS research is early determination of whether a new gene mutation is disease-specific and linked to neuronal cell death pathways.

FRONTIERS IN MOLECULAR NEUROSCIENCE (2021)

添加到收藏夹

Article Biotechnology & Applied Microbiology

Cholesterol-functionalized DNA/RNA heteroduplexes cross the blood-brain barrier and knock down genes in the rodent CNS

Tetsuya Nagata et al.

Summary: This study demonstrates that DNA/RNA heteroduplex oligonucleotides (HDOs) conjugated to cholesterol or alpha-tocopherol can regulate endogenous gene expression in the central nervous system when administered systemically, with limited side effects. The HDOs effectively distribute throughout the CNS and suppress the expression of target genes by up to 90%, showing potential for ASO-based therapies for neurological diseases.

NATURE BIOTECHNOLOGY (2021)

添加到收藏夹

Article Neurosciences

Interactions between ALS-linked FUS and nucleoporins are associated with defects in the nucleocytoplasmic transport pathway

Yen-Chen Lin et al.

Summary: The study showed that ALS-linked mutations in FUS lead to reduced NCT and Nup density, causing cytoplasmic mislocalization in neurons, with aberrant interactions between FUS and nucleoporins. Drosophila experiments further supported these findings, highlighting the importance of proper nucleocytoplasmic transport for cell function.

NATURE NEUROSCIENCE (2021)

添加到收藏夹

Article Clinical Neurology

Prediagnostic Neurofilament Light Chain Levels in Amyotrophic Lateral Sclerosis

Kjetil Bjornevik et al.

Summary: The study found that plasma neurofilament light chain (NfL) levels are elevated before amyotrophic lateral sclerosis (ALS) diagnosis, indicating NfL may be a useful biomarker in the earliest stages of the disease.

NEUROLOGY (2021)

添加到收藏夹

Article Multidisciplinary Sciences

Ubiquitination of G3BP1 mediates stress granule disassembly in a context-specific manner

Youngdae Gwon et al.

Summary: Stress granules are dynamic condensates composed of RNA and protein that disassemble in a context-dependent manner, with ubiquitination of G3BP1 being required for disassembly in the setting of heat shock.

SCIENCE (2021)

添加到收藏夹

Article Cell Biology

Nuclear accumulation of CHMP7 initiates nuclear pore complex injury and subsequent TDP-43 dysfunction in sporadic and familial ALS

Alyssa N. Coyne et al.

Summary: Alterations in the components and function of the nuclear pore complex have been implicated in the pathogenesis of genetic forms of neurodegeneration, and CHMP7 has been identified as a critical mediator of NPC quality control. Increasing evidence suggests that altered CHMP7-mediated Nup homeostasis may play a prominent role in the development of familial and sporadic ALS, highlighting CHMP7 as a potential therapeutic target.

SCIENCE TRANSLATIONAL MEDICINE (2021)

添加到收藏夹

Article Multidisciplinary Sciences

C9orf72-derived arginine-rich poly-dipeptides impede phase modifiers

Hitoki Nanaura et al.

Summary: This study demonstrates how arginine-rich poly-dipeptides hinder the function of nuclear import receptors (NIRs) in modifying the phase transitions of RNA-binding proteins (RBPs), leading to neurodegeneration associated with C9orf72.

NATURE COMMUNICATIONS (2021)

添加到收藏夹

Article Clinical Neurology

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis

Janel O. Johnson et al.

Summary: This study identified variants in the SPTLC1 gene associated with juvenile ALS, suggesting that screening for these variants may be important for patients presenting with juvenile ALS.

JAMA NEUROLOGY (2021)

添加到收藏夹

Article Multidisciplinary Sciences

Generation of Human Motor Units with Functional Neuromuscular Junctions in Microfluidic Devices

Katarina Stoklund Dittlau et al.

Summary: This study successfully created an in vitro model of a human motor unit with functional NMJs, identified and characterized the NMJs through immunocytochemistry and scanning electron microscopy, and confirmed the functionality of the NMJs.

JOVE-JOURNAL OF VISUALIZED EXPERIMENTS (2021)

添加到收藏夹

Article Cell & Tissue Engineering

Reduced PHOX2B stability causes axonal growth impairment in motor neurons with TARDBP mutations

Shio Mitsuzawa et al.

Summary: The study found that reduced expression of PHOX2B caused by TARDBP mutations may contribute to increased axonal vulnerability in amyotrophic lateral sclerosis (ALS). Knockdown of PHOX2B resulted in decreased neurite length in human MNs and induced abnormal spinal axons and impaired escape response in zebrafish. This suggests that loss of axonal resilience mediated by PHOX2B downregulation is an important ALS-related phenotype.

STEM CELL REPORTS (2021)

添加到收藏夹

Review Clinical Neurology

Clinical trials in amyotrophic lateral sclerosis: a systematic review and perspective

Charis Wong et al.

Summary: Wong et al. reviewed historical approaches to clinical trials in amyotrophic lateral sclerosis and highlighted challenges such as lack of sensitive outcome measures and barriers to participation. They suggested that future trials should be more flexible, scalable and efficient in order to address these challenges. Efforts to develop innovative trial designs, especially adaptive platform trials, may offer significant efficiency gains in evaluating drugs for this devastating neurodegenerative disease.

BRAIN COMMUNICATIONS (2021)

添加到收藏夹

Review Public, Environmental & Occupational Health

Estimated Prevalence and Incidence of Amyotrophic Lateral Sclerosis and SOD1 and C9orf72 Genetic Variants

Carolyn A. Brown et al.

Summary: This study estimated the prevalence and incidence of ALS and SOD1/C9orf72 ALS cases in 22 countries across Europe, North America, Latin America, and Asia. Significant heterogeneity in reported incidence and prevalence was observed within and between countries/geographic regions. The majority of SOD1 and C9orf72 ALS cases were found among those with sporadic ALS, indicating that the classification of familial ALS based on reported family history may not fully capture the genetic origin of ALS.

NEUROEPIDEMIOLOGY (2021)

添加到收藏夹

Article Multidisciplinary Sciences

HSP70 chaperones RNA-free TDP-43 into anisotropic intranuclear liquid spherical shells

Haiyang Yu et al.

Summary: This study found that the RNA binding protein TDP-43 forms intranuclear or cytoplasmic aggregates in age-related neurodegenerative diseases. Through mathematical modeling, the primary components of TDP-43 liquid core were identified to be HSP70 family chaperones, and these structures converted to aggregates when ATP levels were reduced.

SCIENCE (2021)

添加到收藏夹

Article Biochemical Research Methods

On-chip 3D neuromuscular model for drug screening and precision medicine in neuromuscular disease

Tatsuya Osaki et al.

NATURE PROTOCOLS (2020)

添加到收藏夹

Article Clinical Neurology

A clinicopathological study of ALS with L126S mutation in the SOD1 gene presenting with isolated inferior olivary hypertrophy

Makoto Hideshima et al.

NEUROPATHOLOGY (2020)

添加到收藏夹

Article Biochemistry & Molecular Biology

Axon microdissection and transcriptome profiling reveals the in vivo RNA content of fully differentiated myelinated motor axons

Joaquina Farias et al.

RNA (2020)

添加到收藏夹

Review Neurosciences

Omics Approach to Axonal Dysfunction of Motor Neurons in Amyotrophic Lateral Sclerosis (ALS)

Naoki Suzuki et al.

FRONTIERS IN NEUROSCIENCE (2020)

添加到收藏夹

Article Multidisciplinary Sciences

C9orf72 suppresses systemic and neural inflammation induced by gut bacteria

Aaron Burberry et al.

NATURE (2020)

添加到收藏夹

Article Clinical Neurology

The Distinct Traits of the UNC13A Polymorphism in Amyotrophic Lateral Sclerosis

Harold H. G. Tan et al.

ANNALS OF NEUROLOGY (2020)

添加到收藏夹

Review Pathology

Common mutations of interest in the diagnosis of amyotrophic lateral sclerosis: how common are common mutations in ALS genes?

Benedetta Perrone et al.

EXPERT REVIEW OF MOLECULAR DIAGNOSTICS (2020)

添加到收藏夹

Article Clinical Neurology

TDP-43 transports ribosomal protein mRNA to regulate axonal local translation in neuronal axons

Seiichi Nagano et al.

ACTA NEUROPATHOLOGICA (2020)

添加到收藏夹

Review Neurosciences

Traffic jam at the nuclear pore: All roads lead to nucleocytoplasmic transport defects in ALS/FTD

Claudia Fallini et al.

NEUROBIOLOGY OF DISEASE (2020)

添加到收藏夹

Article Medicine, General & Internal

Phase 1-2 Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS

Timothy Miller et al.

NEW ENGLAND JOURNAL OF MEDICINE (2020)

添加到收藏夹

Article Biochemistry & Molecular Biology

A Ca2+-Dependent Switch Activates Axonal Casein Kinase 2α Translation and Drives G3BP1 Granule Disassembly for Axon Regeneration

Pabitra K. Sahoo et al.

CURRENT BIOLOGY (2020)

添加到收藏夹

Article Biochemistry & Molecular Biology

Clinical and Molecular Landscape of ALS Patients withSOD1Mutations: Novel Pathogenic Variants and Novel Phenotypes. A Single ALS Center Study

Emilien Bernard et al.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2020)

添加到收藏夹

Article Medicine, General & Internal

Trial of Sodium Phenylbutyrate-Taurursodiol for Amyotrophic Lateral Sclerosis

Sabrina Paganoni et al.

NEW ENGLAND JOURNAL OF MEDICINE (2020)

添加到收藏夹

Article Multidisciplinary Sciences

An Amyotrophic Lateral Sclerosis-Associated Mutant of C21ORF2 Is Stabilized by NEK1-Mediated Hyperphosphorylation and the Inability to Bind FBXO3

Yasuaki Watanabe et al.

ISCIENCE (2020)

添加到收藏夹

Article Biology

A multi-ethnic meta-analysis identifies novel genes, including ACSL5, associated with amyotrophic lateral sclerosis

Ryoichi Nakamura et al.

COMMUNICATIONS BIOLOGY (2020)

添加到收藏夹

Article Cell Biology

Genome-wide Meta-analysis Finds the ACSL5-ZDHHC6 Locus Is Associated with ALS and Links Weight Loss to the Disease Genetics

Alfredo Iacoangeli et al.

CELL REPORTS (2020)

添加到收藏夹

Article Neurosciences

Mechanisms for the maintenance and regulation of axonal energy supply

Kelly Anne Chamberlain et al.

JOURNAL OF NEUROSCIENCE RESEARCH (2019)

添加到收藏夹

Article Biochemistry & Molecular Biology

Altered neuronal migratory trajectories in human cerebral organoids derived from individuals with neuronal heterotopia

Johannes Klaus et al.

NATURE MEDICINE (2019)

添加到收藏夹

Review Clinical Neurology

Bridging biophysics and neurology: aberrant phase transitions in neurodegenerative disease

Natalia B. Nedelsky et al.

NATURE REVIEWS NEUROLOGY (2019)

添加到收藏夹

Article Genetics & Heredity

Association of ATXN2 intermediate-length CAG repeats with amyotrophic lateral sclerosis correlates with the distributions of normal CAG repeat alleles among individual ethnic populations

Hiroya Naruse et al.

NEUROGENETICS (2019)

添加到收藏夹

Review Clinical Neurology

Genetics of amyotrophic lateral sclerosis: A review

Stephane Mathis et al.

JOURNAL OF THE NEUROLOGICAL SCIENCES (2019)

添加到收藏夹

Article Cell & Tissue Engineering

Modeling Motor Neuron Resilience in ALS Using Stem Cells

Ilary Allodi et al.

STEM CELL REPORTS (2019)

添加到收藏夹

Article Biochemistry & Molecular Biology

RNA Granules Hitchhike on Lysosomes for Long-Distance Transport, Using Annexin A11 as a Molecular Tether

Ya-Cheng Liao et al.

CELL (2019)

添加到收藏夹

Article Neurosciences

FUS-mediated regulation of acetylcholine receptor transcription at neuromuscular junctions is compromised in amyotrophic lateral sclerosis

Gina Picchiarelli et al.

NATURE NEUROSCIENCE (2019)

添加到收藏夹

Article Biochemistry & Molecular Biology

Late Endosomes Act as mRNA Translation Platforms and Sustain Mitochondria in Axons

Jean-Michel Cioni et al.

CELL (2019)

添加到收藏夹

Article Clinical Neurology

Burden of rare variants in causative genes for amyotrophic lateral sclerosis (ALS) accelerates age at onset of ALS

Hiroya Naruse et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2019)

添加到收藏夹

Letter Clinical Neurology

A juvenile sporadic amyotrophic lateral sclerosis case with P525L mutation in the FUS gene: A rare co -occurrence of autism spectrum disorder and tremor

Nobuyuki Eura et al.

JOURNAL OF THE NEUROLOGICAL SCIENCES (2019)

添加到收藏夹

Article Neurosciences

ALS-implicated protein TDP-43 sustains levels of STMN2, a mediator of motor neuron growth and repair

Joseph R. Klim et al.

NATURE NEUROSCIENCE (2019)

添加到收藏夹

Article Neurosciences

Premature polyadenylation-mediated loss of stathmin-2 is a hallmark of TDP-43-dependent neurodegeneration

Ze'ev Melamed et al.

NATURE NEUROSCIENCE (2019)

添加到收藏夹

Article Cell & Tissue Engineering

Ropinirole hydrochloride remedy for amyotrophic lateral sclerosis - Protocol for a randomized, double-blind, placebo-controlled, single-center, and open-label continuation phase I/IIa clinical trial (ROPALS trial)

Satoru Morimoto et al.

REGENERATIVE THERAPY (2019)

添加到收藏夹

Article Multidisciplinary Sciences

ALS-Linked SOD1 Mutants Enhance Neurite Outgrowth and Branching in Adult Motor Neurons

Zachary Osking et al.

ISCIENCE (2019)

添加到收藏夹

Article Biochemistry & Molecular Biology

Mitochondrial abnormalities and disruption of the neuromuscular junction precede the clinical phenotype and motor neuron loss in hFUSWT transgenic mice

Eva So et al.

HUMAN MOLECULAR GENETICS (2018)

添加到收藏夹

Article Biochemistry & Molecular Biology

The dendritic spine morphogenic effects of repeated cocaine use occur through the regulation of serum response factor signaling

M. E. Cahill et al.

MOLECULAR PSYCHIATRY (2018)

添加到收藏夹

Article Medicine, Research & Experimental

Genetics of Amyotrophic Lateral Sclerosis

Mehdi Ghasemi et al.

COLD SPRING HARBOR PERSPECTIVES IN MEDICINE (2018)

添加到收藏夹

Article Clinical Neurology

Hot-spot KIF5A mutations cause familial ALS

David Brenner et al.

BRAIN (2018)

添加到收藏夹

Article Biochemistry & Molecular Biology

Nuclear Import Receptor Inhibits Phase Separation of FUS through Binding to Multiple Sites

Takuya Yoshizawa et al.

CELL (2018)

添加到收藏夹

Article Biochemistry & Molecular Biology

Phase Separation of FUS Is Suppressed by Its Nuclear Import Receptor and Arginine Methylation

Mario Hofweber et al.

CELL (2018)

添加到收藏夹

Article Biochemistry & Molecular Biology

Stress Granule Assembly Disrupts Nucleocytoplasmic Transport

Ke Zhang et al.

CELL (2018)

添加到收藏夹

Article Biochemistry & Molecular Biology

Nuclear-Import Receptors Reverse Aberrant Phase Transitions of RNA-Binding Proteins with Prion-like Domains

Lin Guo et al.

CELL (2018)

添加到收藏夹

Article Biochemistry & Molecular Biology

FUS Phase Separation Is Modulated by a Molecular Chaperone and Methylation of Arginine Cation-π Interactions

Seema Qamar et al.

CELL (2018)

添加到收藏夹

Article Cell Biology

Mitofusin 2 Regulates Axonal Transport of Calpastatin to Prevent Neuromuscular Synaptic Elimination in Skeletal Muscles

Luwen Wang et al.

CELL METABOLISM (2018)

添加到收藏夹

Review Clinical Neurology

Emerging antisense oligonucleotide and viral therapies for amyotrophic lateral sclerosis

Cindy V. Ly et al.

CURRENT OPINION IN NEUROLOGY (2018)

添加到收藏夹

Article Biochemistry & Molecular Biology

Impaired mitochondrial dynamics underlie axonal defects in hereditary spastic paraplegias

Kyle Denton et al.

HUMAN MOLECULAR GENETICS (2018)

添加到收藏夹

Article Neurosciences

Palladin Is a Neuron-Specific Translational Target of mTOR Signaling That Regulates Axon Morphogenesis

Yusuke Umegaki et al.

JOURNAL OF NEUROSCIENCE (2018)

添加到收藏夹

Review Clinical Neurology

Novel genes associated with amyotrophic lateral sclerosis: diagnostic and clinical implications

Ruth Chia et al.

LANCET NEUROLOGY (2018)

添加到收藏夹

Article Cell Biology

The prionlike domain of FUS is multiphosphorylated following DNA damage without altering nuclear localization

Shannon N. Rhoads et al.

MOLECULAR BIOLOGY OF THE CELL (2018)

添加到收藏夹

Article Geriatrics & Gerontology

Frequency and characteristics of the TBK1 gene variants in Japanese patients with sporadic amyotrophic lateral sclerosis

Genki Tohnai et al.

NEUROBIOLOGY OF AGING (2018)

添加到收藏夹

Article Neurosciences

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

Aude Nicolas et al.

NEURON (2018)

添加到收藏夹

Article Medicine, General & Internal

Patisiran, an RNAi Therapeutic, for Hereditary Transthyretin Amyloidosis

D. Adams et al.

NEW ENGLAND JOURNAL OF MEDICINE (2018)

添加到收藏夹

Article Medicine, General & Internal

Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy

E. Mercuri et al.

NEW ENGLAND JOURNAL OF MEDICINE (2018)

添加到收藏夹

Review Genetics & Heredity

ALS Genes in the Genomic Era and their Implications for FTD

Hung Phuoc Nguyen et al.

TRENDS IN GENETICS (2018)

添加到收藏夹

Article Cell Biology

Inhibiting p38 MAPK alpha rescues axonal retrograde transport defects in a mouse model of ALS

Katherine L. Gibbs et al.

CELL DEATH & DISEASE (2018)

添加到收藏夹

Article Multidisciplinary Sciences

Impaired DNA damage response signaling by FUSNLS mutations leads to neurodegeneration and FUS aggregate formation

Marcel Naumann et al.

NATURE COMMUNICATIONS (2018)

添加到收藏夹

Article Multidisciplinary Sciences

Elimination of TDP-43 inclusions linked to amyotrophic lateral sclerosis by a misfolding-specific intrabody with dual proteolytic signals

Yoshitaka Tamaki et al.

SCIENTIFIC REPORTS (2018)

添加到收藏夹

Article Multidisciplinary Sciences

Modeling Environmentally-Induced Motor Neuron Degeneration in Zebrafish

Jessica R. Morrice et al.

SCIENTIFIC REPORTS (2018)

添加到收藏夹

Article Cell Biology

Loss of Sfpq Causes Long-Gene Transcriptopathy in the Brain

Akihide Takeuchi et al.

CELL REPORTS (2018)

添加到收藏夹

Article Cell Biology

Molecular Dissection of FUS Points at Synergistic Effect of Low-Complexity Domains in Toxicity

Elke Bogaert et al.

CELL REPORTS (2018)

添加到收藏夹

Article Medicine, Research & Experimental

Parkin is a disease modifier in the mutant SOD1 mouse model of ALS

Gloria M. Palomo et al.

EMBO MOLECULAR MEDICINE (2018)

添加到收藏夹

Article Biochemistry & Molecular Biology

Modeling sporadic ALS in iPSC-derived motor neurons identifies a potential therapeutic agent

Koki Fujimori et al.

NATURE MEDICINE (2018)

添加到收藏夹

Article Neurosciences

ALS/FTD-Linked Mutation in FUS Suppresses Infra-axonal Protein Synthesis and Drives Disease Without Nuclear Loss-of-Function of FUS

Jone Lopez-Erauskin et al.

NEURON (2018)

添加到收藏夹

Article Multidisciplinary Sciences

Patient-derived frontotemporal lobar degeneration brain extracts induce formation and spreading of TDP-43 pathology in vivo

Silvia Porta et al.

NATURE COMMUNICATIONS (2018)

添加到收藏夹

Article Biology

Dynamic neuromuscular remodeling precedes motor-unit loss in a mouse model of ALS

Eric Martineau et al.

ELIFE (2018)

添加到收藏夹

Review Biochemistry & Molecular Biology

RNA-Targeted Therapies and Amyotrophic Lateral Sclerosis

Stephane Mathis et al.

BIOMEDICINES (2018)

添加到收藏夹

Article Medicine, Research & Experimental

A De Novo RAPGEF2 Variant Identified in a Sporadic Amyotrophic Lateral Sclerosis Patient Impairs Microtubule Stability and Axonal Mitochondria Distribution

Keunjung Heo et al.

EXPERIMENTAL NEUROBIOLOGY (2018)

添加到收藏夹

Article Clinical Neurology

Defining SOD1 ALS natural history to guide therapeutic clinical trial design

Taha Bali et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2017)

添加到收藏夹

Review Clinical Neurology

Gene discovery in amyotrophic lateral sclerosis: implications for clinical management

Ammar Al-Chalabi et al.

NATURE REVIEWS NEUROLOGY (2017)

添加到收藏夹

Review Biochemistry & Molecular Biology

How the discovery of ISS-N1 led to the first medical therapy for spinal muscular atrophy

N. N. Singh et al.

GENE THERAPY (2017)

添加到收藏夹

Article Biochemistry & Molecular Biology

Amyotrophic lateral sclerosis-associated mutant SOD1 inhibits anterograde axonal transport of mitochondria by reducing Miro1 levels

Annekathrin Moller et al.

HUMAN MOLECULAR GENETICS (2017)

添加到收藏夹

Article Biochemistry & Molecular Biology

Expression of ALS/FTD-linked mutant CCNF in zebrafish leads to increased cell death in the spinal cord and an aberrant motor phenotype

Alison L. Hogan et al.

HUMAN MOLECULAR GENETICS (2017)

添加到收藏夹

Article Cell Biology

Differential roles of α-, β-, and γ-actin in axon growth and collateral branch formation in motoneurons

Mehri Moradi et al.

JOURNAL OF CELL BIOLOGY (2017)

添加到收藏夹

Article Clinical Neurology

Multiple variants in families with amyotrophic lateral sclerosis and frontotemporal dementia related to C9orf72 repeat expansion: further observations on their oligogenic nature

Maria Pia Giannoccaro et al.

JOURNAL OF NEUROLOGY (2017)

添加到收藏夹

Review Clinical Neurology

Genetic epidemiology of amyotrophic lateral sclerosis: a systematic review and meta-analysis

Zhang-Yu Zou et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2017)

添加到收藏夹

Article Multidisciplinary Sciences

Therapeutic reduction of ataxin-2 extends lifespan and reduces pathology in TDP-43 mice

Lindsay A. Becker et al.

NATURE (2017)

添加到收藏夹

Article Multidisciplinary Sciences

Cell diversity and network dynamics in photosensitive human brain organoids

Giorgia Quadrato et al.

NATURE (2017)

添加到收藏夹

Article Neurosciences

C9orf72 expansion disrupts ATM-mediated chromosomal break repair

Callum Walker et al.

NATURE NEUROSCIENCE (2017)

添加到收藏夹

Article Geriatrics & Gerontology

Burden of rare variants in ALS genes influences survival in familial and sporadic ALS

Shirley Yin-Yu Pang et al.

NEUROBIOLOGY OF AGING (2017)

添加到收藏夹

Article Geriatrics & Gerontology

Comprehensive targeted next-generation sequencing in Japanese familial amyotrophic lateral sclerosis

Ayumi Nishiyama et al.

NEUROBIOLOGY OF AGING (2017)

添加到收藏夹

Review Neurosciences

Neurobiology of axonal transport defects in motor neuron diseases: Opportunities for translational research?

Kurt J. De Vos et al.

NEUROBIOLOGY OF DISEASE (2017)

添加到收藏夹

Article Clinical Neurology

The evolving genetic risk for sporadic ALS

Summer B. Gibson et al.

NEUROLOGY (2017)

添加到收藏夹

Article Neurosciences

TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics

Ian R. Mackenzie et al.

NEURON (2017)

添加到收藏夹

Correction Neurosciences

Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor Development (vol 94, pg 322, 2017)

Swapna Thomas-Jinu et al.

NEURON (2017)

添加到收藏夹

Review Neurosciences

Lost in Transportation: Nucleocytoplasmic Transport Defects in ALS and Other Neurodegenerative Diseases

Hong Joo Kim et al.

NEURON (2017)

添加到收藏夹

Article Clinical Neurology

Enhanced Bulbar Function in Amyotrophic Lateral Sclerosis: The Nuedexta Treatment Trial

Richard Smith et al.

NEUROTHERAPEUTICS (2017)

添加到收藏夹

Article Medicine, General & Internal

Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy

R. S. Finkel et al.

NEW ENGLAND JOURNAL OF MEDICINE (2017)

添加到收藏夹

Article Multidisciplinary Sciences

Toxic PRn poly-dipeptides encoded by the C9orf72 repeat expansion block nuclear import and export

Kevin Y. Shi et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2017)

添加到收藏夹

Article Cell Biology

Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis

Bradley N. Smith et al.

SCIENCE TRANSLATIONAL MEDICINE (2017)

添加到收藏夹

Article Cell Biology

The Src/c-Abl pathway is a potential therapeutic target in amyotrophic lateral sclerosis

Keiko Imamura et al.

SCIENCE TRANSLATIONAL MEDICINE (2017)

添加到收藏夹

Article Multidisciplinary Sciences

Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis

Beben Benyamin et al.

NATURE COMMUNICATIONS (2017)

添加到收藏夹

Article Multidisciplinary Sciences

HDAC6 inhibition reverses axonal transport defects in motor neurons derived from FUS-ALS patients

Wenting Guo et al.

NATURE COMMUNICATIONS (2017)

添加到收藏夹

Article Multidisciplinary Sciences

SRSF1-dependent nuclear export inhibition of C9ORF72 repeat transcripts prevents neurodegeneration and associated motor deficits

Guillaume M. Hautbergue et al.

NATURE COMMUNICATIONS (2017)

添加到收藏夹

Article Biology

A novel ALS-associated variant in UBQLN4 regulates motor axon morphogenesis

Brittany M. Edens et al.

ELIFE (2017)

添加到收藏夹

Article Cell & Tissue Engineering

Genetic Correction of SOD1 Mutant iPSCs Reveals ERK and JNK Activated AP1 as a Driver of Neurodegeneration in Amyotrophic Lateral Sclerosis

Akshay Bhinge et al.

STEM CELL REPORTS (2017)

添加到收藏夹

Article Cell & Tissue Engineering

Generation of a Motor Nerve Organoid with Human Stem Cell-Derived Neurons

Jiro Kawada et al.

STEM CELL REPORTS (2017)

添加到收藏夹

Article Medicine, General & Internal

Amyotrophic lateral sclerosis

Orla Hardiman et al.

Nature Reviews Disease Primers (2017)

添加到收藏夹

Article Medicine, General & Internal

Mitochonic Acid 5 (MA-5) Facilitates ATP Synthase Oligomerization and Cell Survival in Various Mitochondrial Diseases

Tetsuro Matsuhashi et al.

EBIOMEDICINE (2017)

添加到收藏夹

Article Multidisciplinary Sciences

ALS Along the Axons - Expression of Coding and Noncoding RNA Differs in Axons of ALS models

Nimrod Rotem et al.

SCIENTIFIC REPORTS (2017)

添加到收藏夹

Editorial Material Cell Biology

Removing dysfunctional mitochondria from axons independent of mitophagy under pathophysiological conditions

Mei-Yao Lin et al.

AUTOPHAGY (2017)

添加到收藏夹

Article Biochemistry & Molecular Biology

Structure of FUS Protein Fibrils and Its Relevance to Self-Assembly and Phase Separation of Low-Complexity Domains

Dylan T. Murray et al.

CELL (2017)

添加到收藏夹

Article Cell & Tissue Engineering

Fusion of Regionally Specified hPSC-Derived Organoids Models Human Brain Development and Interneuron Migration

Yangfei Xiang et al.

CELL STEM CELL (2017)

添加到收藏夹

Article Medicine, Research & Experimental

DOK7 gene therapy enhances motor activity and life span in ALS model mice

Sadanori Miyoshi et al.

EMBO MOLECULAR MEDICINE (2017)

添加到收藏夹

Review Biochemistry & Molecular Biology

RNA-binding proteins with prion-like domains in health and disease

Alice Ford Harrison et al.

BIOCHEMICAL JOURNAL (2017)

添加到收藏夹

Article Biochemistry & Molecular Biology

Whole transcriptome profiling reveals the RNA content of motor axons

Michael Briese et al.

NUCLEIC ACIDS RESEARCH (2016)

添加到收藏夹

Editorial Material Cell Biology

The most prevalent genetic cause of ALS-FTD, C9orf72 synergizes the toxicity of ATXN2 intermediate polyglutamine repeats through the autophagy pathway

Sorana Ciura et al.

AUTOPHAGY (2016)

添加到收藏夹

Article Clinical Neurology

Prominent sensory involvement in a case of familial amyotrophic lateral sclerosis carrying the L8V SOD1 mutation

Ayumi Nishiyama et al.

CLINICAL NEUROLOGY AND NEUROSURGERY (2016)

添加到收藏夹

Article Medicine, Research & Experimental

Mitochondria-associated membrane collapse is a common pathomechanism in SIGMAR1- and SOD1-linked ALS

Seiji Watanabe et al.

EMBO MOLECULAR MEDICINE (2016)

添加到收藏夹

Article Neurosciences

The multiple sclerosis drug fingolimod (FTY720) stimulates neuronal gene expression, axonal growth and regeneration

Sofia Anastasiadou et al.

EXPERIMENTAL NEUROLOGY (2016)

添加到收藏夹

Article Genetics & Heredity

HGVS Recommendations for the Description of Sequence Variants: 2016 Update

Johan T. den Dunnen et al.

HUMAN MUTATION (2016)

添加到收藏夹

Article Cell Biology

Facilitation of axon regeneration by enhancing mitochondrial transport and rescuing energy deficits

Bing Zhou et al.

JOURNAL OF CELL BIOLOGY (2016)

添加到收藏夹

Review Clinical Neurology

Amyotrophic lateral sclerosis and motor neuron syndromes in Asia

N. Shahrizaila et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2016)

添加到收藏夹

Article Neurosciences

Compartment-Specific Regulation of Autophagy in Primary Neurons

Sandra Maday et al.

JOURNAL OF NEUROSCIENCE (2016)

添加到收藏夹

Article Neurosciences

Deficiency of the Survival of Motor Neuron Protein Impairs mRNA Localization and Local Translation in the Growth Cone of Motor Neurons

Claudia Fallini et al.

JOURNAL OF NEUROSCIENCE (2016)

添加到收藏夹

Article Clinical Neurology

Genotype-phenotype relationships in familial amyotrophic lateral sclerosis with FUS/TLS mutations in Japan

Tetsuya Akiyama et al.

MUSCLE & NERVE (2016)

添加到收藏夹

Review Multidisciplinary Sciences

Decoding ALS: from genes to mechanism

J. Paul Taylor et al.

NATURE (2016)

添加到收藏夹

Article Genetics & Heredity

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

Wouter van Rheenen et al.

NATURE GENETICS (2016)

添加到收藏夹

Article Neurosciences

C9ORF72 interaction with cofilin modulates actin dynamics in motor neurons

Rajeeve Sivadasan et al.

NATURE NEUROSCIENCE (2016)

添加到收藏夹

Article Neurosciences

The RNA-binding protein SFPQ orchestrates an RNA regulon to promote axon viability

Katharina E. Cosker et al.

NATURE NEUROSCIENCE (2016)

添加到收藏夹

Article Geriatrics & Gerontology

Large-scale screening in sporadic amyotrophic lateral sclerosis identifies genetic modifiers in C9orf72 repeat carriers

Annelot M. Dekker et al.

NEUROBIOLOGY OF AGING (2016)

添加到收藏夹

Article Geriatrics & Gerontology

Next-generation sequencing of 28 ALS-related genes in a Japanese ALS cohort

Ryoichi Nakamura et al.

NEUROBIOLOGY OF AGING (2016)

添加到收藏夹

Article Neurosciences

Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs

Jie Jiang et al.

NEURON (2016)

添加到收藏夹

Article Multidisciplinary Sciences

RIPK1 mediates axonal degeneration by promoting inflammation and necroptosis in ALS

Yasushi Ito et al.

SCIENCE (2016)

添加到收藏夹

Article Cell Biology

Loss-of-function mutations in the C9ORF72 mouse ortholog cause fatal autoimmune disease

Aaron Burberry et al.

SCIENCE TRANSLATIONAL MEDICINE (2016)

添加到收藏夹

Review Biochemistry & Molecular Biology

Transport Selectivity of Nuclear Pores, Phase Separation, and Membraneless Organelles

H. Broder Schmidt et al.

TRENDS IN BIOCHEMICAL SCIENCES (2016)

添加到收藏夹

Article Multidisciplinary Sciences

Structural insights into the interaction and disease mechanism of neurodegenerative disease-associated optineurin and TBK1 proteins

Faxiang Li et al.

NATURE COMMUNICATIONS (2016)

添加到收藏夹

Article Multidisciplinary Sciences

Monitoring peripheral nerve degeneration in ALS by label-free stimulated Raman scattering imaging

Feng Tian et al.

NATURE COMMUNICATIONS (2016)

添加到收藏夹

Article Multidisciplinary Sciences

Linear ubiquitination is involved in the pathogenesis of optineurin-associated amyotrophic lateral sclerosis

Seshiru Nakazawa et al.

NATURE COMMUNICATIONS (2016)

添加到收藏夹

Article Multidisciplinary Sciences

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

Kelly L. Williams et al.

NATURE COMMUNICATIONS (2016)

添加到收藏夹

Article Multidisciplinary Sciences

Unraveling gene expression profiles in peripheral motor nerve from amyotrophic lateral sclerosis patients: insights into pathogenesis

Nilo Riva et al.

SCIENTIFIC REPORTS (2016)

添加到收藏夹

Article Cell Biology

Cell-to-Cell Transmission of Dipeptide Repeat Proteins Linked to C9orf72-ALS/FTD

Thomas Westergard et al.

CELL REPORTS (2016)

添加到收藏夹

Article Clinical Neurology

H46R SOD1 mutation is consistently associated with a relatively benign form of amyotrophic lateral sclerosis with slow progression

Zhang-Yu Zou et al.

AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION (2016)

添加到收藏夹

Article Biology

Distinct stages in stress granule assembly and disassembly

Joshua R. Wheeler et al.

ELIFE (2016)

添加到收藏夹

Article Cell & Tissue Engineering

Establishment of In Vitro FUS-Associated Familial Amyotrophic Lateral Sclerosis Model Using Human Induced Pluripotent Stem Cells

Naoki Ichiyanagi et al.

STEM CELL REPORTS (2016)

添加到收藏夹

Article Clinical Neurology

Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease

Cyril Pottier et al.

ACTA NEUROPATHOLOGICA (2015)

添加到收藏夹

Article Clinical Neurology

Dysfunction in endoplasmic reticulum-mitochondria crosstalk underlies SIGMAR1 loss of function mediated motor neuron degeneration

Nathalie Bernard-Marissal et al.

BRAIN (2015)

添加到收藏夹

Review Chemistry, Medicinal

Rational, computer-enabled peptide drug design: principles, methods, applications and future directions

David J. Diller et al.

FUTURE MEDICINAL CHEMISTRY (2015)

添加到收藏夹

Article Clinical Neurology

Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis

Andrea Citterio et al.

JOURNAL OF NEUROLOGY (2015)

添加到收藏夹

Article Multidisciplinary Sciences

The C9orf72 repeat expansion disrupts nucleocytoplasmic transport

Ke Zhang et al.

NATURE (2015)

添加到收藏夹

Article Cell Biology

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

Gabrielle Wheway et al.

NATURE CELL BIOLOGY (2015)

添加到收藏夹

Article Neurosciences

Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS

Ana Jovicic et al.

NATURE NEUROSCIENCE (2015)

添加到收藏夹

Article Geriatrics & Gerontology

De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients

Annemarie Huebers et al.

NEUROBIOLOGY OF AGING (2015)

添加到收藏夹

Editorial Material Clinical Neurology

Multisystem proteinopathy Intersecting genetics in muscle, bone, and brain degeneration

J. Paul Taylor

NEUROLOGY (2015)

添加到收藏夹

Article Neurosciences

Endolysosomal Deficits Augment Mitochondria Pathology in Spinal Motor Neurons of Asymptomatic fALS Mice

Yuxiang Xie et al.

NEURON (2015)

添加到收藏夹

Article Multidisciplinary Sciences

Atomic-resolution structure of the CAP-Gly domain of dynactin on polymeric microtubules determined by magic angle spinning NMR spectroscopy

Si Yan et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2015)

添加到收藏夹

Article Multidisciplinary Sciences

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

Elizabeth T. Cirulli et al.

SCIENCE (2015)

添加到收藏夹

Article Clinical Neurology

Amyotrophic Lateral Sclerosis Onset Is Influenced by the Burden of Rare Variants in Known Amyotrophic Lateral Sclerosis Genes

Janet Cady et al.

ANNALS OF NEUROLOGY (2015)

添加到收藏夹

Article Genetics & Heredity

Isolated inclusion body myopathy caused by a multisystem proteinopathy-linked hnRNPA1 mutation

Rumiko Izumi et al.

NEUROLOGY-GENETICS (2015)

添加到收藏夹

Article Biochemistry & Molecular Biology

Surveillance of Nuclear Pore Complex Assembly by ESCRT-III/Vps4

Brant M. Webster et al.

CELL (2014)

添加到收藏夹

Article Biochemistry & Molecular Biology

A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis

Isabella Fogh et al.

HUMAN MOLECULAR GENETICS (2014)

添加到收藏夹

Article Biochemistry & Molecular Biology

Abnormal mitochondrial transport and morphology are common pathological denominators in SOD1 and TDP43 ALS mouse models

Jordi Magrane et al.

HUMAN MOLECULAR GENETICS (2014)

添加到收藏夹

Article Biochemistry & Molecular Biology

SMN regulates axonal local translation via miR-183/mTOR pathway

Min Jeong Kye et al.

HUMAN MOLECULAR GENETICS (2014)

添加到收藏夹

Review Neurosciences

State of play in amyotrophic lateral sclerosis genetics

Alan E. Renton et al.

NATURE NEUROSCIENCE (2014)

添加到收藏夹

Letter Clinical Neurology

ALS-dying forward, backward or outward?

Mark R. Baker

NATURE REVIEWS NEUROLOGY (2014)

添加到收藏夹

Article Geriatrics & Gerontology

Polymerase chain reaction and Southern blot-based analysis of the C9orf72 hexanucleotide repeat in different motor neuron diseases

Annemarie Huebers et al.

NEUROBIOLOGY OF AGING (2014)

添加到收藏夹

Article Geriatrics & Gerontology

A de novo nonsense mutation of the FUS gene in an apparently familial amyotrophic lateral sclerosis case

Andrea Calvo et al.

NEUROBIOLOGY OF AGING (2014)

添加到收藏夹

Article Neurosciences

Axonal Transport of TDP-43 mRNA Granules Is Impaired by ALS-Causing Mutations

Nael H. Alami et al.

NEURON (2014)

添加到收藏夹

Article Neurosciences

Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS

Bradley N. Smith et al.

NEURON (2014)

添加到收藏夹

Article Neurosciences

SA4503, a sigma-1 receptor agonist, suppresses motor neuron damage in in vitro and in vivo amyotrophic lateral sclerosis models

Yoko Ono et al.

NEUROSCIENCE LETTERS (2014)

添加到收藏夹

Article Multidisciplinary Sciences

Increased Axonal Ribosome Numbers Is an Early Event in the Pathogenesis of Amyotrophic Lateral Sclerosis

Mark H. G. Verheijen et al.

PLOS ONE (2014)

添加到收藏夹

Review Neurosciences

iPS cell technologies: significance and applications to CNS regeneration and disease

Hideyuki Okano et al.

MOLECULAR BRAIN (2014)

添加到收藏夹

Article Clinical Neurology

A post hoc analysis of subgroup outcomes and creatinine in the phase III clinical trial (EMPOWER) of dexpramipexole in ALS

Michael E. Bozik et al.

AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION (2014)

添加到收藏夹

Review Neurosciences

ALS as a distal axonopathy: molecular mechanisms affecting neuromuscular junction stability in the presymptomatic stages of the disease

Elizabeth B. Moloney et al.

FRONTIERS IN NEUROSCIENCE (2014)

添加到收藏夹

Article Genetics & Heredity

ERBB4 Mutations that Disrupt the Neuregulin-ErbB4 Pathway Cause Amyotrophic Lateral Sclerosis Type 19

Yuji Takahashi et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2013)

添加到收藏夹

Article Biochemistry & Molecular Biology

The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder

Bradley N. Smith et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2013)

添加到收藏夹

Article Biochemistry & Molecular Biology

Loss and gain of FUS function impair neuromuscular synaptic transmission in a genetic model of ALS

Gary A. B. Armstrong et al.

HUMAN MOLECULAR GENETICS (2013)

添加到收藏夹

Article Biochemistry & Molecular Biology

ALS-associated mutations in FUS disrupt the axonal distribution and function of SMN

Ewout J. N. Groen et al.

HUMAN MOLECULAR GENETICS (2013)

添加到收藏夹

Article Clinical Neurology

Japanese amyotrophic lateral sclerosis patients with GGGGCC hexanucleotide repeat expansion in C9ORF72

Takuya Konno et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2013)

添加到收藏夹

Article Multidisciplinary Sciences

Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS

Hong Joo Kim et al.

NATURE (2013)

添加到收藏夹

Article Genetics & Heredity

Genome-wide association analyses in Han Chinese identify two new susceptibility loci for amyotrophic lateral sclerosis

Min Deng et al.

NATURE GENETICS (2013)

添加到收藏夹

Article Neurosciences

The mouse C9ORF72 ortholog is enriched in neurons known to degenerate in ALS and FTD

Naoki Suzuki et al.

NATURE NEUROSCIENCE (2013)

添加到收藏夹

Review Neurosciences

Axonal transport deficits and neurodegenerative diseases

Stephanie Millecamps et al.

NATURE REVIEWS NEUROSCIENCE (2013)

添加到收藏夹

Article Clinical Neurology

Clinical Neurogenetics Amyotrophic Lateral Sclerosis

Matthew B. Harms et al.

NEUROLOGIC CLINICS (2013)

添加到收藏夹

Article Clinical Neurology

Motor neuron involvement in multisystem proteinopathy: Implications for ALS

Michael Benatar et al.

NEUROLOGY (2013)

添加到收藏夹

Review Neurosciences

Converging Mechanisms in ALS and FTD: Disrupted RNA and Protein Homeostasis

Shuo-Chien Ling et al.

NEURON (2013)

添加到收藏夹

Article Multidisciplinary Sciences

De Novo Mutations in Ataxin-2 Gene and ALS Risk

Jose Miguel Laffita-Mesa et al.

PLOS ONE (2013)

添加到收藏夹

Article Biochemistry & Molecular Biology

Genome-wide identification of mRNAs associated with the protein SMN whose depletion decreases their axonal localization

Florence Rage et al.

RNA (2013)

添加到收藏夹

Review Cell Biology

mRNA Localization: An Orchestration of Assembly, Traffic and Synthesis

Lei Xing et al.

TRAFFIC (2013)

添加到收藏夹

Review Biochemistry & Molecular Biology

Stress granules and cell signaling: more than just a passing phase?

Nancy Kedersha et al.

TRENDS IN BIOCHEMICAL SCIENCES (2013)

添加到收藏夹

Article Cell Biology

Prion-like Properties of Pathological TDP-43 Aggregates from Diseased Brains

Takashi Nonaka et al.

CELL REPORTS (2013)

添加到收藏夹

Article Clinical Neurology

The Combined Assessment of Function and Survival (CAFS): A new endpoint for ALS clinical trials

James D. Berry et al.

AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION (2013)

添加到收藏夹

Article Clinical Neurology

C9ORF72 Repeat Expansion in Amyotrophic Lateral Sclerosis in the Kii Peninsula of Japan

Hiroyuki Ishiura et al.

ARCHIVES OF NEUROLOGY (2012)

添加到收藏夹

Review Biochemistry & Molecular Biology

Disruption of Axonal Transport in Motor Neuron Diseases

Kensuke Ikenaka et al.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2012)

添加到收藏夹

Article Clinical Neurology

FUS/TLS-Immunoreactive Neuronal and Glial Cell Inclusions Increase With Disease Duration in Familial Amyotrophic Lateral Sclerosis With an R521C FUS/TLS Mutation

Naoki Suzuki et al.

JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2012)

添加到收藏夹

Article Neurosciences

ALS-Associated Ataxin 2 PolyQ Expansions Enhance Stress-Induced Caspase 3 Activation and Increase TDP-43 Pathological Modifications

Michael P. Hart et al.

JOURNAL OF NEUROSCIENCE (2012)

添加到收藏夹

Article Neurosciences

Targeting of Monomer/Misfolded SOD1 as a Therapeutic Strategy for Amyotrophic Lateral Sclerosis

Hsueh-Ning Liu et al.

JOURNAL OF NEUROSCIENCE (2012)

添加到收藏夹

Article Biochemical Research Methods

A novel method to study the local mitochondrial fusion in myelinated axons in vivo

Chuan-Li Zhang et al.

JOURNAL OF NEUROSCIENCE METHODS (2012)

添加到收藏夹

Article Multidisciplinary Sciences

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

Chi-Hong Wu et al.

NATURE (2012)

添加到收藏夹

Article Neurosciences

Divergent roles of ALS-linked proteins FUS/TLS and TDP-43 intersect in processing long pre-mRNAs

Clotilde Lagier-Tourenne et al.

NATURE NEUROSCIENCE (2012)

添加到收藏夹

Review Neurosciences

Axonal mRNA localization and local protein synthesis in nervous system assembly, maintenance and repair

Hosung Jung et al.

NATURE REVIEWS NEUROSCIENCE (2012)

添加到收藏夹

Article Geriatrics & Gerontology

Analysis of C9orf72 repeat expansion in 563 Japanese patients with amyotrophic lateral sclerosis

Kotaro Ogaki et al.

NEUROBIOLOGY OF AGING (2012)

添加到收藏夹

Article Clinical Neurology

Phenotype and genotype analysis in amyotrophic lateral sclerosis with TARDBP gene mutations

P. Corcia et al.

NEUROLOGY (2012)

添加到收藏夹

Article Multidisciplinary Sciences

Mapping of Gene Expression Reveals CYP27A1 as a Susceptibility Gene for Sporadic ALS

Frank P. Diekstra et al.

PLOS ONE (2012)

添加到收藏夹

Article Cell Biology

FUS-SMN Protein Interactions Link the Motor Neuron Diseases ALS and SMA

Tomohiro Yamazaki et al.

CELL REPORTS (2012)

添加到收藏夹

Letter Clinical Neurology

Optineurin is co-localized with FUS in basophilic inclusions of ALS with FUS mutation and in basophilic inclusion body disease

Hidefumi Ito et al.

ACTA NEUROPATHOLOGICA (2011)

添加到收藏夹

Article Biochemistry & Molecular Biology

A functional variant in ZNF512B is associated with susceptibility to amyotrophic lateral sclerosis in Japanese

Aritoshi Iida et al.

HUMAN MOLECULAR GENETICS (2011)

添加到收藏夹

Article Biochemistry & Molecular Biology

A Seeding Reaction Recapitulates Intracellular Formation of Sarkosyl-insoluble Transactivation Response Element (TAR) DNA-binding Protein-43 Inclusions

Yoshiaki Furukawa et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2011)

添加到收藏夹

Article Biochemistry & Molecular Biology

The Dying-Back Phenomenon of Motor Neurons in ALS

Michal Dadon-Nachum et al.

JOURNAL OF MOLECULAR NEUROSCIENCE (2011)

添加到收藏夹

Article Neurosciences

Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43

Magdalini Polymenidou et al.

NATURE NEUROSCIENCE (2011)

添加到收藏夹

Review Clinical Neurology

Clinical genetics of amyotrophic lateral sclerosis: what do we really know?

Peter M. Andersen et al.

NATURE REVIEWS NEUROLOGY (2011)

添加到收藏夹

Article Neurosciences

Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

Mariely DeJesus-Hernandez et al.

NEURON (2011)

添加到收藏夹

Article Neurosciences

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

Alan E. Renton et al.

NEURON (2011)

添加到收藏夹

Article Biochemistry & Molecular Biology

Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo

Edor Kabashi et al.

HUMAN MOLECULAR GENETICS (2010)

添加到收藏夹

Article Genetics & Heredity

FALS with FUS mutation in Japan, with early onset, rapid progress and basophilic inclusion

Naoki Suzuki et al.

JOURNAL OF HUMAN GENETICS (2010)

添加到收藏夹

Article Multidisciplinary Sciences

Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS

Andrew C. Elden et al.

NATURE (2010)

添加到收藏夹

Article Multidisciplinary Sciences

Mutations of optineurin in amyotrophic lateral sclerosis

Hirofumi Maruyama et al.

NATURE (2010)

添加到收藏夹

Article Neurosciences

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

Jane O. Johnson et al.

NEURON (2010)

添加到收藏夹

Article Multidisciplinary Sciences

Loss of ALS2/Alsin Exacerbates Motor wDysfunction in a SOD1H46R-Expressing Mouse ALS Model by Disturbing Endolysosomal Trafficking

Shinji Hadano et al.

PLOS ONE (2010)

添加到收藏夹

Article Multidisciplinary Sciences

Progranulin is Neurotrophic In Vivo and Protects against a Mutant TDP-43 Induced Axonopathy

Angela S. Laird et al.

PLOS ONE (2010)

添加到收藏夹

Article Biotechnology & Applied Microbiology

Intravenous Administration of Self-complementary AAV9 Enables Transgene Delivery to Adult Motor Neurons

Sandra Duque et al.

MOLECULAR THERAPY (2009)

添加到收藏夹

Article Genetics & Heredity

Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis

Michael A. van Es et al.

NATURE GENETICS (2009)

添加到收藏夹

Review Cell Biology

Kinesin superfamily motor proteins and intracellular transport

Nobutaka Hirokawa et al.

NATURE REVIEWS MOLECULAR CELL BIOLOGY (2009)

添加到收藏夹

Article Clinical Neurology

Age and founder effect of SOD1 A4V mutation causing ALS

M. Saeed et al.

NEUROLOGY (2009)

添加到收藏夹

Article Multidisciplinary Sciences

Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis

John E. Landers et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)

添加到收藏夹

Article Multidisciplinary Sciences

Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6

Caroline Vance et al.

SCIENCE (2009)

添加到收藏夹

Article Multidisciplinary Sciences

Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis

T. J. Kwiatkowski et al.

SCIENCE (2009)

添加到收藏夹

Article Biochemistry & Molecular Biology

Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity

Bettina Ebbing et al.

HUMAN MOLECULAR GENETICS (2008)

添加到收藏夹

Article Genetics & Heredity

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

Edor Kabashi et al.

NATURE GENETICS (2008)

添加到收藏夹

Article Multidisciplinary Sciences

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

Jemeen Sreedharan et al.

SCIENCE (2008)

添加到收藏夹

Article Multidisciplinary Sciences

Label-Free Biomedical Imaging with High Sensitivity by Stimulated Raman Scattering Microscopy

Christian W. Freudiger et al.

SCIENCE (2008)

添加到收藏夹

Article Genetics & Heredity

Novel Mutations in TARDBP(TDP-43) in Patients with Familial Amyotrophic Lateral Sclerosis

Nicola J. Rutherford et al.

PLOS GENETICS (2008)

添加到收藏夹

Article Genetics & Heredity

Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis

Michael A. van Es et al.

NATURE GENETICS (2008)

添加到收藏夹

Article Biochemistry & Molecular Biology

Familial amyotrophic lateral sclerosis-linked SOD1 mutants perturb fast axonal transport to reduce axonal mitochondria content

Kurt J. De Vos et al.

HUMAN MOLECULAR GENETICS (2007)

添加到收藏夹

Article Clinical Neurology

Intrathecal delivery of hepatocyte growth factor from amyotrophic lateral sclerosis onset suppresses disease progression in rat amyotrophic lateral sclerosis model

Aya Ishigaki et al.

JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2007)

添加到收藏夹

Article Clinical Neurology

ITPR2 as a susceptibility gene in sporadic arnyotrophic lateral sclerosis: a genorne-wide association study

Michael A. van Es et al.

LANCET NEUROLOGY (2007)

添加到收藏夹

Article Medicine, General & Internal

Whole-genome analysis of sporadic amyotrophic lateral sclerosis

Travis Dunckley et al.

NEW ENGLAND JOURNAL OF MEDICINE (2007)

添加到收藏夹

Article Biochemistry & Molecular Biology

TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

Tetsuaki Arai et al.

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2006)

添加到收藏夹

Article Clinical Neurology

Axonal damage markers in cerebrospinal fluid are increased in ALS

J Brettschneider et al.

NEUROLOGY (2006)

添加到收藏夹

Review Genetics & Heredity

The genetics of axonal transport and axonal transport disorders

Jason E. Duncan et al.

PLOS GENETICS (2006)

添加到收藏夹

Article Clinical Neurology

Late-onset distal myopathy with rimmed vacuoles without mutation in the GNE or dysferlin genes

N Suzuki et al.

MUSCLE & NERVE (2005)

添加到收藏夹

Article Neurosciences

Amyotrophic lateral sclerosis is a distal axonopathy: evidence in mice and man

LR Fischer et al.

EXPERIMENTAL NEUROLOGY (2004)

添加到收藏夹

Article Clinical Neurology

Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia

M Fichera et al.

NEUROLOGY (2004)

添加到收藏夹

Article Clinical Neurology

Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS

C Münch et al.

NEUROLOGY (2004)

添加到收藏夹

Article Cell Biology

Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding

ML McWhorter et al.

JOURNAL OF CELL BIOLOGY (2003)

添加到收藏夹

Article Genetics & Heredity

Mutant dynactin in motor neuron disease

I Puls et al.

NATURE GENETICS (2003)

添加到收藏夹

Article Biotechnology & Applied Microbiology

The druggable genome

AL Hopkins et al.

NATURE REVIEWS DRUG DISCOVERY (2002)

添加到收藏夹

Article Neurosciences

Rats expressing human cytosolic copper-zinc superoxide dismutase transgenes with amyotrophic lateral sclerosis: Associated mutations develop motor neuron disease

M Nagai et al.

JOURNAL OF NEUROSCIENCE (2001)

添加到收藏夹

Article Endocrinology & Metabolism

Clinical delineation and localization to chromosome 9p13.3-p12 of a unique dominant disorder in four families: Hereditary inclusion body myopathy, Paget disease of bone, and frontotemporal dementia

MJ Kovach et al.

MOLECULAR GENETICS AND METABOLISM (2001)

添加到收藏夹

Article Neurosciences

Marked reduction of the Cu/Zn superoxide dismutase polypeptide in a case of familial amyotrophic lateral sclerosis with the homozygous mutation

M Kato et al.

NEUROSCIENCE LETTERS (2001)

添加到收藏夹

Article Genetics & Heredity

A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2

S Hadano et al.

NATURE GENETICS (2001)

添加到收藏夹

© Peeref 2019-2024. All rights reserved.