Related references
Note: Only part of the references are listed.Superoxide Dismutase 1 in Health and Disease: How a Frontline Antioxidant Becomes Neurotoxic
Benjamin G. Trist et al.
ANGEWANDTE CHEMIE-INTERNATIONAL EDITION (2021)
Inducible expression of human C9ORF72 36x G4C2 hexanucleotide repeats is sufficient to cause RAN translation and rapid muscular atrophy in mice
Frederike W. Riemslagh et al.
DISEASE MODELS & MECHANISMS (2021)
Hemizygous deletion of Tbk1 worsens neuromuscular junction pathology in TDP-43G298S transgenic mice
Kirsten Sieverding et al.
EXPERIMENTAL NEUROLOGY (2021)
Optineurin defects cause TDP43-pathology with autophagic vacuolar formation
Takashi Kurashige et al.
NEUROBIOLOGY OF DISEASE (2021)
Early death of ALS-linked CHCHD10-R15L transgenic mice with central nervous system, skeletal muscle, and cardiac pathology
Eanna B. Ryan et al.
ISCIENCE (2021)
Novel reporters of mitochondria-associated membranes (MAM), MAMtrackers, demonstrate MAM disruption as a common pathological feature in amyotrophic lateral sclerosis
Shohei Sakai et al.
FASEB JOURNAL (2021)
Loss of mitochondrial protein CHCHD10 in skeletal muscle causes neuromuscular junction impairment
Yatao Xiao et al.
HUMAN MOLECULAR GENETICS (2020)
Cytoplasmic functions of TDP-43 and FUS and their role in ALS
Nicol Birsa et al.
SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY (2020)
SQSTM1/p62 variants in 486 patients with familial ALS from Germany and Sweden
Ruestem Yilmaz et al.
NEUROBIOLOGY OF AGING (2020)
Modeling cell-autonomous motor neuron phenotypes in ALS using iPSCs
James Hawrot et al.
NEUROBIOLOGY OF DISEASE (2020)
Characteristic Features of FUS Inclusions in Spinal Motor Neurons of Sporadic Amyotrophic Lateral Sclerosis
Kensuke Ikenaka et al.
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2020)
A robust TDP-43 knock-in mouse model of ALS
Shih-Ling Huang et al.
ACTA NEUROPATHOLOGICA COMMUNICATIONS (2020)
VAPB ER-Aggregates, A Possible New Biomarker in ALS Pathology
Maria Piera L. Cadoni et al.
CELLS (2020)
In vivo stress granule misprocessing evidenced in a FUS knock-in ALS mouse
Xue Zhang et al.
BRAIN (2020)
ALS-linked TDP-43M337V knock-in mice exhibit splicing deregulation without neurodegeneration
Seiji Watanabe et al.
MOLECULAR BRAIN (2020)
Riluzole Exhibits No Therapeutic Efficacy on a Transgenic Rat model of Amyotrophic Lateral Sclerosis
Si Chen et al.
CURRENT NEUROVASCULAR RESEARCH (2020)
Cell-to-cell transmission of C9orf72 poly-(Gly-Ala) triggers key features of ALS/FTD
Bahram Khosravi et al.
EMBO JOURNAL (2020)
Hexanucleotide Repeat Expansions in c9FTD/ALS and SCA36 Confer Selective Patterns of Neurodegeneration In Vivo
Tiffany W. Todd et al.
CELL REPORTS (2020)
A novel p.N66T mutation in exon 3 of the SOD1 gene: report of two families of ALS patients with early cognitive impairment
Ilaria Martinelli et al.
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION (2020)
Transmission of ALS pathogenesis by the cerebrospinal fluid
Pooja Shree Mishra et al.
ACTA NEUROPATHOLOGICA COMMUNICATIONS (2020)
C9orf72 suppresses systemic and neural inflammation induced by gut bacteria
Aaron Burberry et al.
NATURE (2020)
Reduced C9ORF72 function exacerbates gain of toxicity from ALS/FTD-causing repeat expansion in C9orf72
Qiang Zhu et al.
NATURE NEUROSCIENCE (2020)
The Loss of TBK1 Kinase Activity in Motor Neurons or in All Cell Types Differentially Impacts ALS Disease Progression in SOD1 Mice
Valeria Gerbino et al.
NEURON (2020)
Congenic expression of poly-GA but not poly-PR in mice triggers selective neuron loss and interferon responses found in C9orf72 ALS
Katherine D. LaClair et al.
ACTA NEUROPATHOLOGICA (2020)
Survival and Motor Phenotypes in FVB C9-500 ALS/FTD BAC Transgenic Mice Reproduced by Multiple Labs
Lien Nguyen et al.
NEURON (2020)
Absence of Survival and Motor Deficits in 500 Repeat C9ORF72 BAC Mice
Daniel A. Mordes et al.
NEURON (2020)
Repeat length increases disease penetrance and severity in C9orf72 ALS/FTD BAC transgenic mice
Amrutha Pattamatta et al.
HUMAN MOLECULAR GENETICS (2020)
Knock in of a hexanucleotide repeat expansion in the C9orf72 gene induces ALS in rats
Wei Dong et al.
ANIMAL MODELS AND EXPERIMENTAL MEDICINE (2020)
Haploinsufficiency of TANK-binding kinase 1 prepones age-associated neuroinflammatory changes without causing motor neuron degeneration in aged mice
Clara Bruno et al.
BRAIN COMMUNICATIONS (2020)
Insights into the role of d-amino acid oxidase mutations in amyotrophic lateral sclerosis
Aditya K. Padhi et al.
JOURNAL OF CELLULAR BIOCHEMISTRY (2019)
Multiple functions of the ER-resident VAP and its extracellular role in neural development and disease
Kosuke Kamemura et al.
JOURNAL OF BIOCHEMISTRY (2019)
Aberrant deposition of stress granule-resident proteins linked to C9orf72-associated TDP-43 proteinopathy
Jeannie Chew et al.
MOLECULAR NEURODEGENERATION (2019)
Coexistence of variants in TBK1 and in other ALS-related genes elucidates an oligogenic model of pathogenesis in sporadic ALS
Serena Lattante et al.
NEUROBIOLOGY OF AGING (2019)
Genetic Convergence Brings Clarity to the Enigmatic Red Line in ALS
Casey Cook et al.
NEURON (2019)
Targeting the Sigma-1 Receptor via Pridopidine Ameliorates Central Features of ALS Pathology in a SOD1G93A Model
Ariel Ionescu et al.
CELL DEATH & DISEASE (2019)
C9orf72 deficiency promotes motor deficits of a C9ALS/FTD mouse model in a dose-dependent manner
Qiang Shao et al.
ACTA NEUROPATHOLOGICA COMMUNICATIONS (2019)
Transcriptomopathies of pre- and post-symptomatic frontotemporal dementia-like mice with TDP-43 depletion in forebrain neurons
Lien-Szu Wu et al.
ACTA NEUROPATHOLOGICA COMMUNICATIONS (2019)
Deletion of Tbk1 disrupts autophagy and reproduces behavioral and locomotor symptoms of FTD-ALS in mice
Weisong Duan et al.
AGING-US (2019)
Experimental Motor Neuron Disease Induced in Mice with Long-Term Repeated Intraperitoneal Injections of Serum from ALS Patients
Izabella Obal et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2019)
A mutant MATR3 mouse model to explain multisystem proteinopathy
Xiao Zhang et al.
JOURNAL OF PATHOLOGY (2019)
N-terminal sequences in matrin 3 mediate phase separation into droplet-like structures that recruit TDP43 variants lacking RNA binding elements
M. Carolina Gallego-Iradi et al.
LABORATORY INVESTIGATION (2019)
Fused in Sarcoma: Properties, Self-Assembly and Correlation with Neurodegenerative Diseases
Chen Chen et al.
MOLECULES (2019)
C9ORF72-ALS/FTD-associated poly(GR) binds Atp5a1 and compromises mitochondrial function in vivo
So Yoen Choi et al.
NATURE NEUROSCIENCE (2019)
Loss of CREST leads to neuroinflammatory responses and ALS-like motor defects in mice
Cheng Cheng et al.
TRANSLATIONAL NEURODEGENERATION (2019)
Widespread FUS mislocalization is a molecular hallmark of amyotrophic lateral sclerosis
Giulia E. Tyzack et al.
BRAIN (2019)
Mice deficient in the C-terminal domain of TAR DNA-binding protein 43 develop age-dependent motor dysfunction associated with impaired Notch1-Akt signaling pathway
Kohei Nishino et al.
ACTA NEUROPATHOLOGICA COMMUNICATIONS (2019)
Identification and characterization of novel and rare susceptible variants in Indian amyotrophic lateral sclerosis patients
Priyam Narain et al.
NEUROGENETICS (2019)
Calcium-responsive transactivator (CREST) toxicity is rescued by loss of PBP1/ATXN2 function in a novel yeast proteinopathy model and in transgenic flies
Sangeun Park et al.
PLOS GENETICS (2019)
Developmental Expression of Mutant PFN1 in Motor Neurons Impacts Neuronal Growth and Motor Performance of Young and Adult Mice
Merryn Brettle et al.
FRONTIERS IN MOLECULAR NEUROSCIENCE (2019)
Neuronal Sigma-1 Receptors: Signaling Functions and Protective Roles in Neurodegenerative Diseases
Daniel A. Ryskamp et al.
FRONTIERS IN NEUROSCIENCE (2019)
Longitudinal diffusion tensor magnetic resonance imaging analysis at the cohort level reveals disturbed cortical and callosal microstructure with spared corticospinal tract in the TDP-43G298S ALS mouse model
Hans-Peter Mueller et al.
TRANSLATIONAL NEURODEGENERATION (2019)
FUS-mediated regulation of acetylcholine receptor transcription at neuromuscular junctions is compromised in amyotrophic lateral sclerosis
Gina Picchiarelli et al.
NATURE NEUROSCIENCE (2019)
Neuronal TDP-43 depletion affects activity-dependent plasticity
Paulina Koza et al.
NEUROBIOLOGY OF DISEASE (2019)
Non-genetically modified models exhibit TARDBP mRNA increase due to perturbed TDP-43 autoregulation
Akihiro Sugai et al.
NEUROBIOLOGY OF DISEASE (2019)
Effects of ALS-associated TANK binding kinase 1 mutations on protein-protein interactions and kinase activity
Junqiang Ye et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2019)
Heterozygous Tbk1 loss has opposing effects in early and late stages of ALS in mice
David Brenner et al.
JOURNAL OF EXPERIMENTAL MEDICINE (2019)
Single-copy expression of an amyotrophic lateral sclerosis-linked TDP-43 mutation (M337V) in BAC transgenic mice leads to altered stress granule dynamics and progressive motor dysfunction
David Gordon et al.
NEUROBIOLOGY OF DISEASE (2019)
Heavy Metal Neurotoxicants Induce ALS-Linked TDP-43 Pathology
Peter E. A. Ash et al.
TOXICOLOGICAL SCIENCES (2019)
Mutant TDP-43 Causes Early-Stage Dose-Dependent Motor Neuron Degeneration in a TARDBP Knockin Mouse Model of ALS
Sarah Y. Ebstein et al.
CELL REPORTS (2019)
Mitochondrial defect in muscle precedes neuromuscular junction degeneration and motor neuron death in CHCHD10S59L/+ mouse
Emmanuelle C. Genin et al.
ACTA NEUROPATHOLOGICA (2019)
ALS/FTD mutant CHCHD10 mice reveal a tissue-specific toxic gain-of-function and mitochondrial stress response
Corey J. Anderson et al.
ACTA NEUROPATHOLOGICA (2019)
Loss of spatacsin impairs cholesterol trafficking and calcium homeostasis
Maxime Boutry et al.
COMMUNICATIONS BIOLOGY (2019)
In vitro and in vivo studies of the ALS-FTLD protein CHCHD10 reveal novel mitochondrial topology and protein interactions
S. R. Burstein et al.
HUMAN MOLECULAR GENETICS (2018)
Analysis of known amyotrophic lateral sclerosis and frontotemporal dementia genes reveals a substantial genetic burden in patients manifesting both diseases not carrying the C9orf72 expansion mutation
Oriol Dols-Icardo et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2018)
A Single Neonatal Exposure to BMAA in a Rat Model Produces Neuropathology Consistent with Neurodegenerative Diseases
Laura Louise Scott et al.
TOXINS (2018)
Senataxin mutations elicit motor neuron degeneration phenotypes and yield TDP-43 mislocalization in ALS4 mice and human patients
Craig L. Bennett et al.
ACTA NEUROPATHOLOGICA (2018)
Matrin 3 Is a Component of Neuronal Cytoplasmic Inclusions of Motor Neurons in Sporadic Amyotrophic Lateral Sclerosis
Mikiko Tada et al.
AMERICAN JOURNAL OF PATHOLOGY (2018)
CHCHD10 variants in amyotrophic lateral sclerosis: Where is the evidence?
Jan H. Veldink
ANNALS OF NEUROLOGY (2018)
Sporadic amyotrophic lateral sclerosis (SALS) - skeletal muscle response to cerebrospinal fluid from SALS patients in a rat model
Shruthi Shanmukha et al.
DISEASE MODELS & MECHANISMS (2018)
Mice with endogenous TDP-43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis
Pietro Fratta et al.
EMBO JOURNAL (2018)
Stability of an aggregation-prone partially folded state of human profilin-1 correlates with aggregation propensity
Edoardo Del Poggetto et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2018)
Poly(GR) impairs protein translation and stress granule dynamics in C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis
Yong-Jie Zhang et al.
NATURE MEDICINE (2018)
Haploinsufficiency leads to neurodegeneration in C9ORF72 ALS/FTD human induced motor neurons
Yingxiao Shi et al.
NATURE MEDICINE (2018)
TDP-43 gains function due to perturbed autoregulation in a Tardbp knock-in mouse model of ALS-FTD
Matthew A. White et al.
NATURE NEUROSCIENCE (2018)
Targeted next-generation sequencing reveals novel and rare variants in Indian patients with amyotrophic lateral sclerosis
Priyam Narain et al.
NEUROBIOLOGY OF AGING (2018)
ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function
Martina de Majo et al.
NEUROBIOLOGY OF AGING (2018)
Association between TBK1 mutations and risk of amyotrophic lateral sclerosis/frontotemporal dementia spectrum: a meta-analysis
Rongrong Cui et al.
NEUROLOGICAL SCIENCES (2018)
The first French case of MATR3-related distal myopathy: Clinical, radiological and histopathological characterization
A. Barp et al.
REVUE NEUROLOGIQUE (2018)
Identification of a Novel Hemizygous SQSTM1 Nonsense Mutation in Atypical Behavioral Variant Frontotemporal Dementia
Lin Sun et al.
FRONTIERS IN AGING NEUROSCIENCE (2018)
Identification of compound heterozygous variants in OPTN in an ALS-FTD patient from the CReATe consortium: a case report
Cyril Pottier et al.
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION (2018)
Dysfunction of Optineurin in Amyotrophic Lateral Sclerosis and Glaucoma
Reka P. Toth et al.
FRONTIERS IN IMMUNOLOGY (2018)
TBK1 Suppresses RIPK1-Driven Apoptosis and Inflammation during Development and in Aging
Daichao Xu et al.
CELL (2018)
Evaluation of neuroprotective effects of wedelolactone and gallic acid on aluminium-induced neurodegeneration: Relevance to sporadic amyotrophic lateral sclerosis
S. Maya et al.
EUROPEAN JOURNAL OF PHARMACOLOGY (2018)
Altered oligomeric states in pathogenic ALS2 variants associated with juvenile motor neuron diseases cause loss of ALS2-mediated endosomal function
Kai Sato et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2018)
Modeling sporadic ALS in iPSC-derived motor neurons identifies a potential therapeutic agent
Koki Fujimori et al.
NATURE MEDICINE (2018)
Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseases
Emmanuelle C. Genin et al.
NEUROBIOLOGY OF DISEASE (2018)
Changes in biophysical characteristics of PFN1 due to mutation causing amyotrophic lateral sclerosis
Mina Nekouei et al.
METABOLIC BRAIN DISEASE (2018)
ALS-causing mutations in profilin-1 alter its conformational dynamics: A computational approach to explain propensity for aggregation
Mahmoud Kiaei et al.
SCIENTIFIC REPORTS (2018)
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)
ALS-Associated E478G Mutation in Human OPTN (Optineurin) Promotes Inflammation and Induces Neuronal Cell Death
Zhengzhao Liu et al.
FRONTIERS IN IMMUNOLOGY (2018)
Analysis of spinal and muscle pathology in transgenic mice overexpressing wild-type and ALS-linked mutant MATR3
Christina Moloney et al.
ACTA NEUROPATHOLOGICA COMMUNICATIONS (2018)
Mutant UBQLN2(P497H) in motor neurons leads to ALS-like phenotypes and defective autophagy in rats
Tianhong Chen et al.
ACTA NEUROPATHOLOGICA COMMUNICATIONS (2018)
Focus on the Role of D-serine and D-amino Acid Oxidase in Amyotrophic Lateral Sclerosis/Motor Neuron Disease (ALS)
Nazanin R. Kondori et al.
FRONTIERS IN MOLECULAR BIOSCIENCES (2018)
Importance of Functional Loss of FUS in FTLD/ALS
Shinsuke Ishigaki et al.
FRONTIERS IN MOLECULAR BIOSCIENCES (2018)
Profilin1 biology and its mutation, actin(g) in disease
Duah Alkam et al.
CELLULAR AND MOLECULAR LIFE SCIENCES (2017)
TBK1 mutations in Italian patients with amyotrophic lateral sclerosis: genetic and functional characterisation
Laura Pozzi et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2017)
Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degeneration
Julien Branchu et al.
NEUROBIOLOGY OF DISEASE (2017)
TDP-43 Depletion in Microglia Promotes Amyloid Clearance but Also Induces Synapse Loss
Rosa C. Paolicelli et al.
NEURON (2017)
Nuclear poly(A) binding protein 1 (PABPN1) and Matrin3 interact in muscle cells and regulate RNA processing
Ayan Banerjee et al.
NUCLEIC ACIDS RESEARCH (2017)
Optineurin in amyotrophic lateral sclerosis: Multifunctional adaptor protein at the crossroads of different neuroprotective mechanisms
Andrea Markovinovic et al.
PROGRESS IN NEUROBIOLOGY (2017)
Regulation of RIPK1 activation by TAK1-mediated phosphorylation dictates apoptosis and necroptosis
Jiefei Geng et al.
NATURE COMMUNICATIONS (2017)
TDP-43 accelerates age-dependent degeneration of interneurons
Hitomi Tsuiji et al.
SCIENTIFIC REPORTS (2017)
Altered Tau Isoform Ratio Caused by Loss of FUS and SFPQ Function Leads to FTLD-like Phenotypes
Shinsuke Ishigaki et al.
CELL REPORTS (2017)
3′UTR Length-Dependent Control of SynGAP Isoform α2 mRNA by FUS and ELAV-like Proteins Promotes Dendritic Spine Maturation and Cognitive Function
Satoshi Yokoi et al.
CELL REPORTS (2017)
Patient iPSC-Derived Neurons for Disease Modeling of Frontotemporal Dementia with Mutation in CHMP2B
Yu Zhang et al.
STEM CELL REPORTS (2017)
Dendritic Homeostasis Disruption in a Novel Frontotemporal Dementia Mouse Model Expressing Cytoplasmic Fused in Sarcoma
Gen Shiihashi et al.
EBIOMEDICINE (2017)
Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in 'FUSDelta14' knockin mice
Anny Devoy et al.
BRAIN (2017)
The ALS-linked E102Q mutation in Sigma receptor-1 leads to ER stress-mediated defects in protein homeostasis and dysregulation of RNA-binding proteins
Alice Dreser et al.
CELL DEATH AND DIFFERENTIATION (2017)
Roles of sigma-1 receptors on mitochondrial functions relevant to neurodegenerative diseases
Tzu-Yu Weng et al.
JOURNAL OF BIOMEDICAL SCIENCE (2017)
Spinal poly-GA inclusions in a C9orf72 mouse model trigger motor deficits and inflammation without neuron loss
Martin H. Schludi et al.
ACTA NEUROPATHOLOGICA (2017)
Misfolded SOD1 is not a primary component of sporadic ALS
Sandrine Da Cruz et al.
ACTA NEUROPATHOLOGICA (2017)
Motor neuron intrinsic and extrinsic mechanisms contribute to the pathogenesis of FUS-associated amyotrophic lateral sclerosis
Jelena Scekic-Zahirovic et al.
ACTA NEUROPATHOLOGICA (2017)
Re-evaluation of the phenotype caused by the common MATR3 p.Ser85Cys mutation in a new family
Johanna Palmio et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2016)
Mislocated FUS is sufficient for gain-of-toxic-function amyotrophic lateral sclerosis phenotypes in mice
Gen Shiihashi et al.
BRAIN (2016)
The extreme N-terminus of TDP-43 mediates the cytoplasmic aggregation of TDP-43 and associated toxicity in vivo
Hiroki Sasaguri et al.
BRAIN RESEARCH (2016)
UBQLN2 Mediates Autophagy-Independent Protein Aggregate Clearance by the Proteasome
Roland Hjerpe et al.
CELL (2016)
Genetics of Frontotemporal Dementia
Diana A. Olszewska et al.
CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS (2016)
An amyloid-like cascade hypothesis for C9orf72 ALS/FTD
Dieter Edbauer et al.
CURRENT OPINION IN NEUROBIOLOGY (2016)
Toxic gain of function from mutant FUS protein is crucial to trigger cell autonomous motor neuron loss
Jelena Scekic-Zahirovic et al.
EMBO JOURNAL (2016)
Mitochondria-associated membrane collapse is a common pathomechanism in SIGMAR1- and SOD1-linked ALS
Seiji Watanabe et al.
EMBO MOLECULAR MEDICINE (2016)
Absence of alsin function leads to corticospinal motor neuron vulnerability via novel disease mechanisms
Mukesh Gautam et al.
HUMAN MOLECULAR GENETICS (2016)
A transgenic mouse expressing CHMP2Bintron5 mutant in neurons develops histological and behavioural features of amyotrophic lateral sclerosis and frontotemporal dementia
Aurelia Vernay et al.
HUMAN MOLECULAR GENETICS (2016)
Increased Ubqln2 expression causes neuron death in transgenic rats
Bo Huang et al.
JOURNAL OF NEUROCHEMISTRY (2016)
Physiological functions and pathobiology of TDP-43 and FUS/TLS proteins
Antonia Ratti et al.
JOURNAL OF NEUROCHEMISTRY (2016)
Insights into the pathogenic mechanisms of Chromosome 9 open reading frame 72 (C9orf72) repeat expansions
Tiffany W. Todd et al.
JOURNAL OF NEUROCHEMISTRY (2016)
C9ORF72 poly(GA) aggregates sequester and impair HR23 and nucleocytoplasmic transport proteins
Yong-Jie Zhang et al.
NATURE NEUROSCIENCE (2016)
TBK1 is associated with ALS and ALS-FTD in Sardinian patients
Giuseppe Borghero et al.
NEUROBIOLOGY OF AGING (2016)
Mutational analysis of TBK1 in Taiwanese patients with amyotrophic lateral sclerosis
Pei-Chien Tsai et al.
NEUROBIOLOGY OF AGING (2016)
OPTN 691_692insAG is a founder mutation causing recessive ALS and increased risk in heterozygotes
Orly Goldstein et al.
NEUROLOGY (2016)
C9orf72 BAC Mouse Model with Motor Deficits and Neurodegenerative Features of ALS/FTD
Yuanjing Liu et al.
NEURON (2016)
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)
Profilin 1 mutants form aggregates that induce accumulation of prion-like TDP-43
Yoshinori Tanaka et al.
PRION (2016)
Acid rain mitigation experiment shifts a forested watershed from a net sink to a net source of nitrogen
Emma J. Rosi-Marshall et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2016)
Significance of optineurin mutations in glaucoma and other diseases
Yuriko Minegishi et al.
PROGRESS IN RETINAL AND EYE RESEARCH (2016)
RIPK1 mediates axonal degeneration by promoting inflammation and necroptosis in ALS
Yasushi Ito et al.
SCIENCE (2016)
C9orf72 is required for proper macrophage and microglial function in mice
J. G. O'Rourke et al.
SCIENCE (2016)
Loss-of-function mutations in the C9ORF72 mouse ortholog cause fatal autoimmune disease
Aaron Burberry et al.
SCIENCE TRANSLATIONAL MEDICINE (2016)
ALS Mutations Disrupt Phase Separation Mediated by α-Helical Structure in the TDP-43 Low-Complexity C-Terminal Domain
Alexander E. Conicella et al.
STRUCTURE (2016)
Human TBK1: A Gatekeeper of Neuroinflammation
Liyana Ahmad et al.
TRENDS IN MOLECULAR MEDICINE (2016)
Early Impairment of Synaptic and Intrinsic Excitability in Mice Expressing ALS/Dementia-Linked Mutant UBQLN2
Daniel Radzicki et al.
FRONTIERS IN CELLULAR NEUROSCIENCE (2016)
ALS-associated mutant FUS induces selective motor neuron degeneration through toxic gain of function
Aarti Sharma et al.
NATURE COMMUNICATIONS (2016)
Loss of C9orf72 Enhances Autophagic Activity via Deregulated mTOR and TFEB Signaling
Janet Ugolino et al.
PLOS GENETICS (2016)
Intravenous injection of L-BMAA induces a rat model with comprehensive characteristics of amyotrophic lateral sclerosis/Parkinson-dementia complex
Ke-Wei Tian et al.
TOXICOLOGY RESEARCH (2016)
C9orf72 ablation causes immune dysregulation characterized by leukocyte expansion, autoantibody production, and glomerulonephropathy in mice
Amanda Atanasio et al.
SCIENTIFIC REPORTS (2016)
Antisense RNA foci in the motor neurons of C9ORF72-ALS patients are associated with TDP-43 proteinopathy
Johnathan Cooper-Knock et al.
ACTA NEUROPATHOLOGICA (2015)
A truncating SOD1 mutation, p.Gly141X, is associated with clinical and pathologic heterogeneity, including frontotemporal lobar degeneration
Masataka Nakamura et al.
ACTA NEUROPATHOLOGICA (2015)
Functional recovery in new mouse models of ALS/FTLD after clearance of pathological cytoplasmic TDP-43
Adam K. Walker et al.
ACTA NEUROPATHOLOGICA (2015)
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)
C9orf72 ablation in mice does not cause motor neuron degeneration or motor deficits
Max Koppers et al.
ANNALS OF NEUROLOGY (2015)
Modulatory Role of Simvastatin against Aluminium Chloride-Induced Behavioural and Biochemical Changes in Rats
Madhavan Nampoothiri et al.
BEHAVIOURAL NEUROLOGY (2015)
Dysfunction in endoplasmic reticulum-mitochondria crosstalk underlies SIGMAR1 loss of function mediated motor neuron degeneration
Nathalie Bernard-Marissal et al.
BRAIN (2015)
A Liquid-to-Solid Phase Transition of the ALS Protein FUS Accelerated by Disease Mutation
Avinash Patel et al.
CELL (2015)
Nuclear matrix protein Matrin3 regulates alternative splicing and forms overlapping regulatory networks with PTB
Miguel B. Coelho et al.
EMBO JOURNAL (2015)
Morphometric and neurochemical alterations found in L-BMAA treated rats
Estefania de Munck et al.
ENVIRONMENTAL TOXICOLOGY AND PHARMACOLOGY (2015)
MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus
Fabiola Quintero-Rivera et al.
HUMAN MOLECULAR GENETICS (2015)
Vapb/Amyotrophic lateral sclerosis 8 knock-in mice display slowly progressive motor behavior defects accompanying ER stress and autophagic response
Frederique Larroquette et al.
HUMAN MOLECULAR GENETICS (2015)
Viral expression of ALS-linked ubiquilin-2 mutants causes inclusion pathology and behavioral deficits in mice
Carolina Ceballos-Diaz et al.
MOLECULAR NEURODEGENERATION (2015)
Calcium-responsive transactivator (CREST) protein shares a set of structural and functional traits with other proteins associated with amyotrophic lateral sclerosis
Michail S. Kukharsky et al.
MOLECULAR NEURODEGENERATION (2015)
Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia
Axel Freischmidt et al.
NATURE NEUROSCIENCE (2015)
VCP gene analyses in Japanese patients with sporadic amyotrophic lateral sclerosis identify a new mutation
Makito Hirano et al.
NEUROBIOLOGY OF AGING (2015)
Novelmutations support a role for Profilin 1 in the pathogenesis of ALS
Bradley N. Smith et al.
NEUROBIOLOGY OF AGING (2015)
In silico analysis of SIGMAR1 variant (rs4879809) segregating in a consanguineous Pakistani family showing amyotrophic lateral sclerosis without frontotemporal lobar dementia
Muhammad Ikram Ullah et al.
NEUROGENETICS (2015)
ALS/FTD Mutation-Induced Phase Transition of FUS Liquid Droplets and Reversible Hydrogels into Irreversible Hydrogels Impairs RNP Granule Function
Tetsuro Murakami et al.
NEURON (2015)
Human C9ORF72 Hexanucleotide Expansion Reproduces RNA Foci and Dipeptide Repeat Proteins but Not Neurodegeneration in BAC Transgenic Mice
Owen M. Peters et al.
NEURON (2015)
C9orf72 BAC Transgenic Mice Display Typical Pathologic Features of ALS/FTD
Jacqueline G. O'Rourke et al.
NEURON (2015)
Accumulation of dipeptide repeat proteins predates that of TDP-43 in frontotemporal lobar degeneration associated with hexanucleotide repeat expansions in C9ORF72 gene
A. Baborie et al.
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY (2015)
Clinicopathological features of the first Asian family having vocal cord and pharyngeal weakness with distal myopathy due to a MATR3 mutation
S. Yamashita et al.
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY (2015)
Structural basis for mutation-induced destabilization of profilin 1 in ALS
Sivakumar Boopathy et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2015)
C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits
Jeannie Chew et al.
SCIENCE (2015)
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways
Elizabeth T. Cirulli et al.
SCIENCE (2015)
FUS regulates AMPA receptor function and FTLD/ALS-associated behaviour via GluA1 mRNA stabilization
Tsuyoshi Udagawa et al.
NATURE COMMUNICATIONS (2015)
In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11
Rita-Eva Varga et al.
PLOS GENETICS (2015)
Six SQSTM1 mutations in a Chinese amyotrophic lateral sclerosis cohort
Yi Yang et al.
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION (2015)
FUS/TLS deficiency causes behavioral and pathological abnormalities distinct from amyotrophic lateral sclerosis
Yoshihiro Kino et al.
ACTA NEUROPATHOLOGICA COMMUNICATIONS (2015)
Pathogenic Ubqln2 gains toxic properties to induce neuron death
Qinxue Wu et al.
ACTA NEUROPATHOLOGICA (2015)
A novel SOD1-ALS mutation separates central and peripheral effects of mutant SOD1 toxicity
Peter I. Joyce et al.
HUMAN MOLECULAR GENETICS (2015)
Phenotype of Matrin-3-Related Distal Myopathy in 16 German Patients
Tobias J. Mueller et al.
ANNALS OF NEUROLOGY (2014)
Methyl pyruvate rescues mitochondrial damage caused by SIGMAR1 mutation related to amyotrophic lateral sclerosis
Hideaki Tagashira et al.
BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS (2014)
Are CHCHD10 mutations indeed associated with familial amyotrophic lateral sclerosis?
Wouter van Rheenen et al.
BRAIN (2014)
A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement
Sylvie Bannwarth et al.
BRAIN (2014)
C57BL/6J congenic Prp-TDP43A315T mice develop progressive neurodegeneration in the myenteric plexus of the colon without exhibiting key features of ALS
Theo Hatzipetros et al.
BRAIN RESEARCH (2014)
Sequestosome-1 (SQSTM1) sequence variants in ALS cases in the UK: prevalence and coexistence of SQSTM1 mutations in ALS kindred with PDB
Chun T. Kwok et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2014)
SQSTM1 mutations - Bridging Paget disease of bone and ALS/FTLD
Sarah L. Rea et al.
EXPERIMENTAL CELL RESEARCH (2014)
Intrathecal infusion of BMAA induces selective motor neuron damage and astrogliosis in the ventral horn of the spinal cord
Hong Z. Yin et al.
EXPERIMENTAL NEUROLOGY (2014)
Spastic paraplegia proteins spastizin and spatacsin mediate autophagic lysosome reformation
Jaerak Chang et al.
JOURNAL OF CLINICAL INVESTIGATION (2014)
ALS-associated mutation FUS-R521C causes DNA damage and RNA splicing defects
Haiyan Qiu et al.
JOURNAL OF CLINICAL INVESTIGATION (2014)
Prevention of intestinal obstruction reveals progressive neurodegeneration in mutant TDP-43 (A315T) mice
Sarah Herdewyn et al.
MOLECULAR NEURODEGENERATION (2014)
Alterations in microRNA-124 and AMPA receptors contribute to social behavioral deficits in frontotemp oral dementia
Eduardo Gascon et al.
NATURE MEDICINE (2014)
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis
Janel O. Johnson et al.
NATURE NEUROSCIENCE (2014)
SQSTM1 mutations in Han Chinese populations with sporadic amyotrophic lateral sclerosis
YongPing Chen et al.
NEUROBIOLOGY OF AGING (2014)
Pathogenic effects of amyotrophic lateral sclerosis-linked mutation in D-amino acid oxidase are mediated by D-serine
Praveen Paul et al.
NEUROBIOLOGY OF AGING (2014)
Mutations in UBQLN2 and SIGMAR1 genes are rare in Korean patients with amyotrophic lateral sclerosis
Hee-Jung Kim et al.
NEUROBIOLOGY OF AGING (2014)
Neuroprotective effects of the Sigma-1 receptor (SIR) agonist PRE-084, in a mouse model of moter neuron disease not linked to SOD1 mutation
Marco Peviani et al.
NEUROBIOLOGY OF DISEASE (2014)
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)
Dendritic spinopathy in transgenic mice expressing ALS/dementia-linked mutant UBQLN2
George H. Gorrie et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2014)
Activity-dependent FUS dysregulation disrupts synaptic homeostasis
Chantelle F. Sephton et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2014)
Poly-dipeptides encoded by the C9orf72 repeats bind nucleoli, impede RNA biogenesis, and kill cells
Ilmin Kwon et al.
SCIENCE (2014)
An ALS-associated mutation in the FUS 3′-UTR disrupts a microRNA-FUS regulatory circuitry
Stefano Dini Modigliani et al.
NATURE COMMUNICATIONS (2014)
Brain distribution of dipeptide repeat proteins in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72
Yvonne S. Davidson et al.
ACTA NEUROPATHOLOGICA COMMUNICATIONS (2014)
Overexpression of human wild-type FUS causes progressive motor neuron degeneration in an age- and dose-dependent fashion
Jacqueline C. Mitchell et al.
ACTA NEUROPATHOLOGICA (2013)
Dipeptide repeat protein pathology in C9ORF72 mutation cases: clinico-pathological correlations
Ian R. Mackenzie et al.
ACTA NEUROPATHOLOGICA (2013)
Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia
Pietro Fratta et al.
ACTA NEUROPATHOLOGICA (2013)
C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci
Sarah Mizielinska et al.
ACTA NEUROPATHOLOGICA (2013)
Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS
Tania F. Gendron et al.
ACTA NEUROPATHOLOGICA (2013)
Reduced C9orf72 gene expression in c9FTD/ALS is caused by histone trimethylation, an epigenetic event detectable in blood
Veronique V. Belzil et al.
ACTA NEUROPATHOLOGICA (2013)
Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology
Elisa Teyssou et al.
ACTA NEUROPATHOLOGICA (2013)
Phosphorylation-Regulated Binding of RNA Polymerase II to Fibrous Polymers of Low-Complexity Domains
Ilmin Kwon et al.
CELL (2013)
β-N-methylamino-L-alanine causes neurological and pathological phenotypes mimicking Amyotrophic Lateral Sclerosis (ALS): The first step towards an experimental model for sporadic ALS
Estefania de Munck et al.
ENVIRONMENTAL TOXICOLOGY AND PHARMACOLOGY (2013)
Investigating the contribution of VAPB/ALS8 loss of function in amyotrophic lateral sclerosis
Edor Kabashi et al.
HUMAN MOLECULAR GENETICS (2013)
Amyotrophic lateral sclerosis-related VAPB P56S mutation differentially affects the function and survival of corticospinal and spinal motor neurons
Leonardo Aliaga et al.
HUMAN MOLECULAR GENETICS (2013)
Altered localization, abnormal modification and loss of function of Sigma receptor-1 in amyotrophic lateral sclerosis
J. Prause et al.
HUMAN MOLECULAR GENETICS (2013)
Enhanced optineurin E50KTBK1 interaction evokes protein insolubility and initiates familial primary open-angle glaucoma
Yuriko Minegishi et al.
HUMAN MOLECULAR GENETICS (2013)
Mutations in the 3′ untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis
Mario Sabatelli et al.
HUMAN MOLECULAR GENETICS (2013)
Premature death of TDP-43 (A315T) transgenic mice due to gastrointestinal complications prior to development of full neurological symptoms of amyotrophic lateral sclerosis
Mohammad A. Esmaeili et al.
INTERNATIONAL JOURNAL OF EXPERIMENTAL PATHOLOGY (2013)
Ubiquitin-independent function of optineurin in autophagic clearance of protein aggregates
Jelena Korac et al.
JOURNAL OF CELL SCIENCE (2013)
Optineurin Insufficiency Impairs IRF3 but Not NF-κB Activation in Immune Cells
Ivana Munitic et al.
JOURNAL OF IMMUNOLOGY (2013)
Kinetic Analysis of npBAF to nBAF Switching Reveals Exchange of SS18 with CREST and Integration with Neural Developmental Pathways
Brett T. Staahl et al.
JOURNAL OF NEUROSCIENCE (2013)
A cellular model for sporadic ALS using patient-derived induced pluripotent stem cells
Matthew F. Burkhardt et al.
MOLECULAR AND CELLULAR NEUROSCIENCE (2013)
Widespread aggregation of mutant VAPB associated with ALS does not cause motor neuron degeneration or modulate mutant SOD1 aggregation and toxicity in mice
Linghua Qiu et al.
MOLECULAR NEURODEGENERATION (2013)
A progressive translational mouse model of human valosin-containing protein disease: The VCPR155H/+ mouse
Angele Nalbandian et al.
MUSCLE & NERVE (2013)
Exome sequencing to identify de novo mutations in sporadic ALS trios
Alessandra Chesi et al.
NATURE NEUROSCIENCE (2013)
A novel optineurin truncating mutation and three glaucoma-associated missense variants in patients with familial amyotrophic lateral sclerosis in Germany
Jochen H. Weishaupt et al.
NEUROBIOLOGY OF AGING (2013)
Mutations in the gene encoding p62 in Japanese patients with amyotrophic lateral sclerosis
Makito Hirano et al.
NEUROLOGY (2013)
Unconventional Translation of C9ORF72 GGGGCC Expansion Generates Insoluble Polypeptides Specific to c9FTD/ALS
Peter E. A. Ash et al.
NEURON (2013)
LACK OF SIGMA-1 RECEPTOR EXACERBATES ALS PROGRESSION IN MICE
T. A. Mavlyutov et al.
NEUROSCIENCE (2013)
Differential expression profiles of glycosphingolipids in human breast cancer stem cells vs. cancer non-stem cells
Yuh-Jin Liang et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)
Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration
Clotilde Lagier-Tourenne et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)
The C9orf72 GGGGCC Repeat Is Translated into Aggregating Dipeptide-Repeat Proteins in FTLD/ALS
Kohji Mori et al.
SCIENCE (2013)
Amyotrophic lateral sclerosis (ALS)-associated VAPB-P56S inclusions represent an ER quality control compartment
Marijn Kuijpers et al.
ACTA NEUROPATHOLOGICA COMMUNICATIONS (2013)
Combined fulminant frontotemporal dementia and amyotrophic lateral sclerosis associated with an I113T SOD1 mutation
Jonathan S. Katz et al.
AMYOTROPHIC LATERAL SCLEROSIS (2012)
The functional analysis of the CHMP2B missense mutation associated with neurodegenerative diseases in the endo-lysosomal pathway
Jeong-Ho Han et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2012)
Recent advances in p97/VCP/Cdc48 cellular functions
Kunitoshi Yamanaka et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH (2012)
Progressive neuronal inclusion formation and axonal degeneration in CHMP2B mutant transgenic mice
Shabnam Ghazi-Noori et al.
BRAIN (2012)
HO-1 induction in motor cortex and intestinal dysfunction in TDP-43 A315T transgenic mice
Yansu Guo et al.
BRAIN RESEARCH (2012)
Cell-free Formation of RNA Granules: Low Complexity Sequence Domains Form Dynamic Fibers within Hydrogels
Masato Kato et al.
CELL (2012)
Cell-free Formation of RNA Granules: Bound RNAs Identify Features and Components of Cellular Assemblies
Tina W. Han et al.
CELL (2012)
Absence of SOD1 leads to oxidative stress in peripheral nerve and causes a progressive distal motor axonopathy
Lindsey R. Fischer et al.
EXPERIMENTAL NEUROLOGY (2012)
Neuronal expression of Fig4 is both necessary and sufficient to prevent spongiform neurodegeneration
C. J. Ferguson et al.
HUMAN MOLECULAR GENETICS (2012)
Targeted Depletion of TDP-43 Expression in the Spinal Cord Motor Neurons Leads to the Development of Amyotrophic Lateral Sclerosis-like Phenotypes in Mice
Lien-Szu Wu et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2012)
Restructured endoplasmic reticulum generated by mutant amyotrophic lateral sclerosis-linked VAPB is cleared by the proteasome
Giulia Papiani et al.
JOURNAL OF CELL SCIENCE (2012)
A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study
Ilse Gijselinck et al.
LANCET NEUROLOGY (2012)
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study
Elisa Majounie et al.
LANCET NEUROLOGY (2012)
Expression of Fused in sarcoma mutations in mice recapitulates the neuropathology of FUS proteinopathies and provides insight into disease pathogenesis
Christophe Verbeeck et al.
MOLECULAR NEURODEGENERATION (2012)
Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis
Chi-Hong Wu et al.
NATURE (2012)
Mutational analysis of VCP gene in familial amyotrophic lateral sclerosis
Cinzia Tiloca et al.
NEUROBIOLOGY OF AGING (2012)
Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis
Yevgeniya Abramzon et al.
NEUROBIOLOGY OF AGING (2012)
A novel heterozygous nonsense mutation of the OPTN gene segregating in a Danish family with ALS
Zeynep Tumer et al.
NEUROBIOLOGY OF AGING (2012)
Exome sequencing reveals SPG11 mutations causing juvenile ALS
Hussein Daoud et al.
NEUROBIOLOGY OF AGING (2012)
VCP mutations in familial and sporadic amyotrophic lateral sclerosis
Max Koppers et al.
NEUROBIOLOGY OF AGING (2012)
SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
Elisa Rubino et al.
NEUROLOGY (2012)
Sigma-1R Agonist Improves Motor Function and Motoneuron Survival in ALS Mice
Renzo Mancuso et al.
NEUROTHERAPEUTICS (2012)
The Homozygote VCPR155H/R155H Mouse Model Exhibits Accelerated Human VCP-Associated Disease Pathology
Angele Nalbandian et al.
PLOS ONE (2012)
Genetic Overlap between Apparently Sporadic Motor Neuron Diseases
Marka van Blitterswijk et al.
PLOS ONE (2012)
D-Amino acid oxidase controls motoneuron degeneration through D-serine
Jumpei Sasabe et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2012)
The most common type of FTLD-FUS (aFTLD-U) is associated with a distinct clinical form of frontotemporal dementia but is not related to mutations in the FUS gene
Julie S. Snowden et al.
ACTA NEUROPATHOLOGICA (2011)
A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis
Amr Al-Saif et al.
ANNALS OF NEUROLOGY (2011)
SQSTM1 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis
Faisal Fecto et al.
ARCHIVES OF NEUROLOGY (2011)
Human VAPA and the yeast VAP Scs2p with an altered proline distribution can phenocopy amyotrophic lateral sclerosis-associated VAPB(P56S)
Shoko Nakamichi et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2011)
Endosomal accumulation of APP in wobbler motor neurons reflects impaired vesicle trafficking: Implications for human motor neuron disease
Ralf Palmisano et al.
BMC NEUROSCIENCE (2011)
Frontotemporal Dementia Caused by CHMP2B Mutations
A. M. Isaacs et al.
Current Alzheimer Research (2011)
Defective relocalization of ALS2/alsin missense mutants to Rac1-induced macropinosomes accounts for loss of their cellular function and leads to disturbed amphisome formation
Asako Otomo et al.
FEBS LETTERS (2011)
Downregulation of VAPB expression in motor neurons derived from induced pluripotent stem cells of ALS8 patients
Miguel Mitne-Neto et al.
HUMAN MOLECULAR GENETICS (2011)
A point mutation in the ubiquitin-associated domain of SQSMT1 is sufficient to cause a Paget's disease-like disorder in mice
Anna Daroszewska et al.
HUMAN MOLECULAR GENETICS (2011)
Polyubiquitin Binding to Optineurin Is Required for Optimal Activation of TANK-binding Kinase 1 and Production of Interferon β
Catherine E. Gleason et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2011)
Dysregulation of the ALS-associated gene TDP-43 leads to neuronal death and degeneration in mice
Lionel M. Igaz et al.
JOURNAL OF CLINICAL INVESTIGATION (2011)
Sigma Receptor Agonist 2-(4-Morpholinethyl) 1 Phenylcyclohexanecarboxylate (Pre084) Increases GDNF and BiP Expression and Promotes Neuroprotection after Root Avulsion Injury
Clara Penas et al.
JOURNAL OF NEUROTRAUMA (2011)
Behavioural phenotyping of knockout mice for the sigma-1 (σ1) chaperone protein revealed gender-related anxiety, depressive-like and memory alterations
Nathalie Chevallier et al.
JOURNAL OF PSYCHOPHARMACOLOGY (2011)
Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia
Han-Xiang Deng et al.
NATURE (2011)
NOVEL p.Ile151Val MUTATION IN VCP IN A PATIENT OF AFRICAN AMERICAN DESCENT WITH SPORADIC ALS
M. DeJesus-Hernandez et al.
NEUROLOGY (2011)
Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS
Mariely DeJesus-Hernandez et al.
NEURON (2011)
A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
Alan E. Renton et al.
NEURON (2011)
Ubiquitinated, p62 immunopositive cerebellar cortical neuronal inclusions are evident across the spectrum of TDP-43 proteinopathies but are only rarely additionally immunopositive for phosphorylation-dependent TDP-43
Andrew King et al.
NEUROPATHOLOGY (2011)
A yeast functional screen predicts new candidate ALS disease genes
Julien Couthouis et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)
Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration: an update
Ian R. A. Mackenzie et al.
ACTA NEUROPATHOLOGICA (2010)
Loss of murine TDP-43 disrupts motor function and plays an essential role in embryogenesis
Brian C. Kraemer et al.
ACTA NEUROPATHOLOGICA (2010)
Novel Missense Mutation in Charged Multivesicular Body Protein 2B in a Patient With Frontotemporal Dementia
Raffaele Ferrari et al.
ALZHEIMER DISEASE & ASSOCIATED DISORDERS (2010)
Altered neuronal activities in the motor cortex with impaired motor performance in adult rats observed after infusion of cerebrospinal fluid from amyotrophic lateral sclerosis patients
R. Sankaranarayani et al.
BEHAVIOURAL BRAIN RESEARCH (2010)
Elimination of the Native Structure and Solubility of the hVAPB MSP Domain by the Pro56Ser Mutation That Causes Amyotrophic Lateral Sclerosis
Jiahai Shi et al.
BIOCHEMISTRY (2010)
SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis
Antonio Orlacchio et al.
BRAIN (2010)
ALS-associated fused in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear import
Dorothee Dormann et al.
EMBO JOURNAL (2010)
A VAPB mutant linked to amyotrophic lateral sclerosis generates a novel form of organized smooth endoplasmic reticulum
Elisa Fasana et al.
FASEB JOURNAL (2010)
De Novo Truncating FUS Gene Mutation as a Cause of Sporadic Amyotrophic Lateral Sclerosis
Mariely DeJesus-Hernandez et al.
HUMAN MUTATION (2010)
Structural Requirements for VAP-B Oligomerization and Their Implication in Amyotrophic Lateral Sclerosis-associated VAP-B(P56S) Neurotoxicity
SoHui Kim et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2010)
CHMP2B mutations are rare in French families with frontotemporal lobar degeneration
Mustapha Ghanim et al.
JOURNAL OF NEUROLOGY (2010)
Induced Loss of ADAR2 Engenders Slow Death of Motor Neurons from Q/R Site-Unedited GluR2
Takuto Hideyama et al.
JOURNAL OF NEUROSCIENCE (2010)
Wild-Type Human TDP-43 Expression Causes TDP-43 Phosphorylation, Mitochondrial Aggregation, Motor Deficits, and Early Mortality in Transgenic Mice
Ya-Fei Xu et al.
JOURNAL OF NEUROSCIENCE (2010)
Expansive Gene Transfer in the Rat CNS Rapidly Produces Amyotrophic Lateral Sclerosis Relevant Sequelae When TDP-43 is Overexpressed
David B. Wang et al.
MOLECULAR THERAPY (2010)
Mutations of optineurin in amyotrophic lateral sclerosis
Hirofumi Maruyama et al.
NATURE (2010)
Progressive motor weakness in transgenic mice expressing human TDP-43
Nancy R. Stallings et al.
NEUROBIOLOGY OF DISEASE (2010)
Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS
Jane O. Johnson et al.
NEURON (2010)
Amyotrophic lateral sclerosis and frontotemporal lobar degeneration: A spectrum of TDP-43 proteinopathies
Felix Geser et al.
NEUROPATHOLOGY (2010)
AMYOTROPHIC LATERAL SCLEROSIS MUTANT VESICLE-ASSOCIATED MEMBRANE PROTEIN-ASSOCIATED PROTEIN-B TRANSGENIC MICE DEVELOP TAR-DNA-BINDING PROTEIN-43 PATHOLOGY
E. L. Tudor et al.
NEUROSCIENCE (2010)
THE SIGMA-1 RECEPTOR IS ENRICHED IN POSTSYNAPTIC SITES OF C-TERMINALS IN MOUSE MOTONEURONS. AN ANATOMICAL AND BEHAVIORAL STUDY
T. A. Mavlyutov et al.
NEUROSCIENCE (2010)
Genetic background and gender effects on gross phenotypes in congenic lines of ALS2/alsin-deficient mice
Shinji Hadano et al.
NEUROSCIENCE RESEARCH (2010)
VCP Associated Inclusion Body Myopathy and Paget Disease of Bone Knock-In Mouse Model Exhibits Tissue Pathology Typical of Human Disease
Mallikarjun Badadani et al.
PLOS ONE (2010)
Familial amyotrophic lateral sclerosis is associated with a mutation in D-amino acid oxidase
John Mitchell et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)
TDP-43 transgenic mice develop spastic paralysis and neuronal inclusions characteristic of ALS and frontotemporal lobar degeneration
Hans Wils et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)
Phosphorylation of S409/410 of TDP-43 is a consistent feature in all sporadic and familial forms of TDP-43 proteinopathies
Manuela Neumann et al.
ACTA NEUROPATHOLOGICA (2009)
Autosomal-Dominant Distal Myopathy Associated with a Recurrent Missense Mutation in the Gene Encoding the Nuclear Matrix Protein, Matrin 3
Jan Senderek et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Deleterious Variants of FIG4. a Phosphoinositide Phosphatase, in Patients with ALS
Clement Y. Chow et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Current Hypotheses for the Underlying Biology of Amyotrophic Lateral Sclerosis
Jeffrey D. Rothstein
ANNALS OF NEUROLOGY (2009)
Sigma-1 receptor knockout mice display a depressive-like phenotype
Valentina Sabino et al.
BEHAVIOURAL BRAIN RESEARCH (2009)
Aluminum hydroxide injections lead to motor deficits and motor neuron degeneration
Christopher A. Shaw et al.
JOURNAL OF INORGANIC BIOCHEMISTRY (2009)
SOD1 and cognitive dysfunction in familial amyotrophic lateral sclerosis
P. Wicks et al.
JOURNAL OF NEUROLOGY (2009)
Amyotrophic lateral sclerosis, frontotemporal dementia and beyond: the TDP-43 diseases
Felix Geser et al.
JOURNAL OF NEUROLOGY (2009)
SELECTIVE SIGMA RECEPTOR AGONIST 2-(4-MORPHOLINETHYL)1-PHENYLCYCLOHEXANECARBOXYLATE (PRE084) PROMOTES NEUROPROTECTION AND NEURITE ELONGATION THROUGH PROTEIN KINASE C (PKC) SIGNALING ON MOTONEURONS
M. -S. Guzman-Lenis et al.
NEUROSCIENCE (2009)
TDP-43 mutant transgenic mice develop features of ALS and frontotemporal lobar degeneration
Iga Wegorzewska et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6
Caroline Vance et al.
SCIENCE (2009)
Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis
T. J. Kwiatkowski et al.
SCIENCE (2009)
Treatment with edaravone, initiated at symptom onset, slows motor decline and decreases SOD1 deposition in ALS mice
Hidefumi Ito et al.
EXPERIMENTAL NEUROLOGY (2008)
Als2 mRNA splicing variants detected in KO mice rescue severe motor dysfunction phenotype in Als2 knock-down zebrafish
Francois Gros-Louis et al.
HUMAN MOLECULAR GENETICS (2008)
Genetic inactivation of p62 leads to accumulation of hyperphosphorylated tau and neurodegeneration
J. Ramesh Babu et al.
JOURNAL OF NEUROCHEMISTRY (2008)
CHMP2B mutations are not a common cause of familial or sporadic amyotrophic lateral sclerosis
I. P. Blair et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2008)
TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis
Edor Kabashi et al.
NATURE GENETICS (2008)
ALS2/alsin knockout mice and motor neuron diseases
Huaibin Cai et al.
NEURODEGENERATIVE DISEASES (2008)
TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis
Jemeen Sreedharan et al.
SCIENCE (2008)
Novel Mutations in TARDBP(TDP-43) in Patients with Familial Amyotrophic Lateral Sclerosis
Nicola J. Rutherford et al.
PLOS GENETICS (2008)
CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro
Julie van der Zee et al.
HUMAN MOLECULAR GENETICS (2008)
Distal axonopathy in an alsin-deficient mouse model
Han-Xiang Deng et al.
HUMAN MOLECULAR GENETICS (2007)
Sigma-1 receptor chaperones at the ER-Mitochondrion interface regulate Ca2+ signaling and cell survival
Teruo Hayashi et al.
CELL (2007)
Vascular enclothelial growth factor prevents paralysis and motoneuron death in a rat model of excitotoxic spinal cord neurodegeneration
Luis B. Tovar-y-Romo et al.
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2007)
D-Serine is a key determinant of glutamate toxicity in amyotrophic lateral sclerosis
Jumpei Sasabe et al.
EMBO JOURNAL (2007)
ESCRT-III dysfunction causes autophagosome accumulation and neurodegeneration
Jin-A Lee et al.
CURRENT BIOLOGY (2007)
Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J
Clement Y. Chow et al.
NATURE (2007)
Is there a role for naturally occurring cyanobacterial toxins in neurodegeneration?: The beta-N-methylamino-L-alanine (BMAA) paradigm
Spiridon Papapetropoulos
NEUROCHEMISTRY INTERNATIONAL (2007)
Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations
Ian R. A. Mackenzie et al.
ANNALS OF NEUROLOGY (2007)
Ubiquitinated pathological lesions in frontotemporal lobar degeneration contain the TAR DNA-binding protein, TDP-43
Yvonne Davidson et al.
ACTA NEUROPATHOLOGICA (2007)
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)
Motor neuron disease in mice expressing the wild type-like D90A mutant superoxide dismutase-1
P. Andreas Jonsson et al.
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2006)
Immunoreactivities of p62, an ubiqutin-binding protein, in the spinal anterior horn cells of patients with amyotrophic lateral sclerosis
Yuji Mizuno et al.
JOURNAL OF THE NEUROLOGICAL SCIENCES (2006)
Transgenic mouse models of amyotrophic lateral sclerosis
Jean-Pierre Julien et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2006)
Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
Manuela Neumann et al.
SCIENCE (2006)
ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B)
N. Parkinson et al.
NEUROLOGY (2006)
Behavioral and biochemical characterization of a mutant mouse strain lacking D-amino acid oxidase activity and its implications for schizophrenia
S. L. Almond et al.
MOLECULAR AND CELLULAR NEUROSCIENCE (2006)
Progressive spinal axonal degeneration and slowness in ALS2-deficient mice
Koji Yamanaka et al.
ANNALS OF NEUROLOGY (2006)
The first ALS2 missense mutation associated with JPLS reveals new aspects of alsin biological function
Chris Panzeri et al.
BRAIN (2006)
p97: The cell's molecular purgatory?
Dalia Halawani et al.
MOLECULAR CELL (2006)
Als2-deficient mice exhibit disturbances in endosome trafficking associated with motor behavioral abnormalities
R. S. Devon et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2006)
Absence of CuZn superoxide dismutase leads to elevated oxidative stress and acceleration of age-dependent skeletal muscle atrophy
Florian L. Muller et al.
FREE RADICAL BIOLOGY AND MEDICINE (2006)
Mice deficient in the Rab5 guanine nucleotide exchange factor ALS2/alsin exhibit age-dependent neurological deficits and altered endosome trafficking
S Hadano et al.
HUMAN MOLECULAR GENETICS (2006)
Mutation of Vps54 causes motor neuron disease and defective spermiogenesis in the wobbler mouse
T Schmitt-John et al.
NATURE GENETICS (2005)
Loss of ALS2 function is insufficient to trigger motor neuron degeneration in knock-out mice but predisposes neurons to oxidative stress
HB Cai et al.
JOURNAL OF NEUROSCIENCE (2005)
Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia
G Skibinski et al.
NATURE GENETICS (2005)
Neuroprotective effect of oxidized galectin-1 in a transgenic mouse model of amyotrophic lateral sclerosis
R Chang-Hong et al.
EXPERIMENTAL NEUROLOGY (2005)
Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein
GDJ Watts et al.
NATURE GENETICS (2004)
A novel locus for late onset amyotrophic lateral sclerosis/motor neurone disease variant at 20q13
AL Nishimura et al.
JOURNAL OF MEDICAL GENETICS (2004)
Dendrite development regulated by CREST, a calcium-regulated transcriptional activator
H Aizawa et al.
SCIENCE (2004)
Homo-oligomerization of ALS2 through its unique carboxyl-terminal regions is essential for the ALS2-associated Rab5 guanine nucleotide exchange activity and its regulatory function on endosome trafficking
R Kunita et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Alsin is a Rab5 and Rac1 guanine nucleotide exchange factor
JD Topp et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis
AL Nishimura et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2004)
DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)
YZ Chen et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2004)
Ubiquilin interacts with ubiquitylated proteins and proteasome through its ubiquitin-associated and ubiquitin-like domains
HS Ko et al.
FEBS LETTERS (2004)
Unstable mutants in the peripheral endosomal membrane component ALS2 cause early-onset motor neuron disease
K Yamanaka et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2003)
The wobbler mouse -: A neurodegeneration jigsaw puzzle
S Boillée et al.
MOLECULAR NEUROBIOLOGY (2003)
ALS2, a novel guanine nucleotide exchange factor for the small GTPase Rab5, is implicated in endosomal dynamics
A Otomo et al.
HUMAN MOLECULAR GENETICS (2003)
Effect of amyotrophic lateral sclerosis serum on calcium channels related to spontaneous acetylcholine release
S Muchnik et al.
CLINICAL NEUROPHYSIOLOGY (2002)
The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis
Y Yang et al.
NATURE GENETICS (2001)
A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2
S Hadano et al.
NATURE GENETICS (2001)
Late endosomes: Sorting and partitioning in multivesicular bodies
RC Piper et al.
TRAFFIC (2001)
Deficiency of T2K leads to apoptotic liver degeneration and impaired NF-κB-dependent gene transcription
M Bonnard et al.
EMBO JOURNAL (2000)
Formation of intermediate filament protein aggregates with disparate effects in two transgenic mouse models lacking the neurofilament light subunit
JM Beaulieu et al.
JOURNAL OF NEUROSCIENCE (2000)
Male sterility and enhanced radiation sensitivity in TLS-/- mice
M Kuroda et al.
EMBO JOURNAL (2000)
Fus deficiency in mice results in defective B-lymphocyte development and activation, high levels of chromosomal instability and perinatal death
GG Hicks et al.
NATURE GENETICS (2000)
Share Paper
