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。Comparison of CSF and serum neurofilament light and heavy chain as differential diagnostic biomarkers for ALS
Steffen Halbgebauer et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2022)
Exploring CSF neurofilament light as a biomarker for MS in clinical practice; a retrospective registry-based study
Igal Rosenstein et al.
MULTIPLE SCLEROSIS JOURNAL (2022)
Mutant HTT (huntingtin) impairs mitophagy in a cellular model of Huntington disease
Sandra Franco-Iborra et al.
AUTOPHAGY (2021)
Antisense Drugs Make Sense for Neurological Diseases
C. Frank Bennett et al.
ANNUAL REVIEW OF PHARMACOLOGY AND TOXICOLOGY, VOL 61, 2021 (2021)
Mutant Huntingtin Is Cleared from the Brain via Active Mechanisms in Huntington Disease
Nicholas S. Caron et al.
JOURNAL OF NEUROSCIENCE (2021)
CSF neurofilament light may predict progression from amnestic mild cognitive impairment to Alzheimer's disease dementia
Bryant Lim et al.
NEUROBIOLOGY OF AGING (2021)
Biomarkers for neurodegenerative diseases
Oskar Hansson
NATURE MEDICINE (2021)
Potent and sustained huntingtin lowering via AAV5 encoding miRNA preserves striatal volume and cognitive function in a humanized mouse model of Huntington disease
Nicholas S. Caron et al.
NUCLEIC ACIDS RESEARCH (2020)
Understanding the effect of controlling phosphorothioate chirality in the DNA gap on the potency and safety of gapmer antisense oligonucleotides
Michael E. Ostergaard et al.
NUCLEIC ACIDS RESEARCH (2020)
Injured adult neurons regress to an embryonic transcriptional growth state
Gunnar H. D. Poplawski et al.
NATURE (2020)
Phosphorothioate modified oligonucleotide-protein interactions
Stanley T. Crooke et al.
NUCLEIC ACIDS RESEARCH (2020)
Biological and clinical characteristics of gene carriers far from predicted onset in the Huntington?s disease Young Adult Study (HD-YAS): a cross-sectional analysis
Rachael I. Scahill et al.
LANCET NEUROLOGY (2020)
Huntington's disease alters human neurodevelopment
Monia Barnat et al.
SCIENCE (2020)
Chronic Corticosterone Elevation Suppresses Adult Hippocampal Neurogenesis by Hyperphosphorylating Huntingtin
Fabienne Agasse et al.
CELL REPORTS (2020)
The Interaction of Aging and Cellular Stress Contributes to Pathogenesis in Mouse and Human Huntington Disease Neurons
Emily Machiela et al.
FRONTIERS IN AGING NEUROSCIENCE (2020)
Targeting Huntingtin Expression in Patients with Huntington's Disease
Sarah J. Tabrizi et al.
NEW ENGLAND JOURNAL OF MEDICINE (2019)
CAG Repeat Not Polyglutamine Length Determines Timing of Huntington's Disease Onset
Jong-Min Lee et al.
CELL (2019)
A Comprehensive Haplotype-Targeting Strategy for Allele-Specific HTT Suppression in Huntington Disease
Chris Kay et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2019)
HACE1 is essential for astrocyte mitochondrial function and influences Huntington disease phenotypes in vivo
Dagmar E. Ehrnhoefer et al.
HUMAN MOLECULAR GENETICS (2018)
Chemistry, mechanism and clinical status of antisense oligonucleotides and duplex RNAs
Xiulong Shen et al.
NUCLEIC ACIDS RESEARCH (2018)
Huntingtin suppression restores cognitive function in a mouse model of Huntington's disease
Amber L. Southwell et al.
SCIENCE TRANSLATIONAL MEDICINE (2018)
Huntingtin is a scaffolding protein in the ATM oxidative DNA damage response complex
Tamara Maiuri et al.
HUMAN MOLECULAR GENETICS (2017)
Control of phosphorothioate stereochemistry substantially increases the efficacy of antisense oligonucleotides
Naoki Iwamoto et al.
NATURE BIOTECHNOLOGY (2017)
Elimination of huntingtin in the adult mouse leads to progressive behavioral deficits, bilateral thalamic calcification, and altered brain iron homeostasis
Paula Dietrich et al.
PLOS GENETICS (2017)
The pathogenic exon 1 HTT protein is produced by incomplete splicing in Huntington's disease patients
Andreas Neueder et al.
SCIENTIFIC REPORTS (2017)
Neurofilament light protein in CSF and blood is associated with neurodegeneration and disease severity in Huntington's disease R6/2 mice
Rana Soylu-Kucharz et al.
SCIENTIFIC REPORTS (2017)
Human single-stranded DNA binding proteins: guardians of genome stability
Yuanzhong Wu et al.
ACTA BIOCHIMICA ET BIOPHYSICA SINICA (2016)
Longitudinal Psychiatric Symptoms in Prodromal Huntington's Disease: A Decade of Data
Eric A. Epping et al.
AMERICAN JOURNAL OF PSYCHIATRY (2016)
A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene
Lance H. Rodan et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2016)
An enhanced Q175 knock-in mouse model of Huntington disease with higher mutant huntingtin levels and accelerated disease phenotypes
Amber L. Southwell et al.
HUMAN MOLECULAR GENETICS (2016)
Mitochondrial dynamics and quality control in Huntington's disease
Pedro Guedes-Dias et al.
NEUROBIOLOGY OF DISEASE (2016)
Neurofilament Light Chain in Blood and CSF as Marker of Disease Progression in Mouse Models and in Neurodegenerative Diseases
Mehtap Bacioglu et al.
NEURON (2016)
ENHANCED IMMUNE RESPONSE TO MMP3 STIMULATION IN MICROGLIA EXPRESSING MUTANT HUNTINGTIN
C. Connolly et al.
NEUROSCIENCE (2016)
Ablation of huntingtin in adult neurons is nondeleterious but its depletion in young mice causes acute pancreatitis
Guohao Wang et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2016)
Pharmacokinetics, biodistribution and cell uptake of antisense oligonucleotides
Richard S. Geary et al.
ADVANCED DRUG DELIVERY REVIEWS (2015)
HD iPSC-derived neural progenitors accumulate in culture and are susceptible to BDNF withdrawal due to glutamate toxicity
Virginia B. Mattis et al.
HUMAN MOLECULAR GENETICS (2015)
Huntingtin functions as a scaffold for selective macroautophagy
Yan-Ning Rui et al.
NATURE CELL BIOLOGY (2015)
A SNP in the HTT promoter alters NF-κB binding and is a bidirectional genetic modifier of Huntington disease
Kristina Becanovic et al.
NATURE NEUROSCIENCE (2015)
Ultrasensitive measurement of huntingtin protein in cerebrospinal fluid demonstrates increase with Huntington disease stage and decrease following brain huntingtin suppression
Amber L. Southwell et al.
SCIENTIFIC REPORTS (2015)
A huntingtin-mediated fast stress response halting endosomal trafficking is defective in Huntington's disease
Siddharth Nath et al.
HUMAN MOLECULAR GENETICS (2015)
Neurogenesis in the Striatum of the Adult Human Brain
Aurelie Ernst et al.
CELL (2014)
Personalized gene silencing therapeutics for Huntington disease
C. Kay et al.
CLINICAL GENETICS (2014)
Bidirectional Control of Postsynaptic Density-95 (PSD-95) Clustering by Huntingtin
Matthew P. Parsons et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2014)
The Regulation of Autophagosome Dynamics by Huntingtin and HAP1 Is Disrupted by Expression of Mutant Huntingtin, Leading to Defective Cargo Degradation
Yvette C. Wong et al.
JOURNAL OF NEUROSCIENCE (2014)
In Vivo Evaluation of Candidate Allele-specific Mutant Huntingtin Gene Silencing Antisense Oligonucleotides
Amber L. Southwell et al.
MOLECULAR THERAPY (2014)
HACE1 reduces oxidative stress and mutant Huntingtin toxicity by promoting the NRF2 response
Barak Rotblat et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2014)
Potential function for the Huntingtin protein as a scaffold for selective autophagy
Joseph Ochaba et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2014)
Vesicular Glycolysis Provides On-Board Energy for Fast Axonal Transport
Diana Zala et al.
CELL (2013)
A fully humanized transgenic mouse model of Huntington disease
Amber L. Southwell et al.
HUMAN MOLECULAR GENETICS (2013)
Rational design of antisense oligonucleotides targeting single nucleotide polymorphisms for potent and allele selective suppression of mutant Huntingtin in the CNS
Michael E. Ostergaard et al.
NUCLEIC ACIDS RESEARCH (2013)
Aberrant splicing of HTT generates the pathogenic exon 1 protein in Huntington disease
Kirupa Sathasivam et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)
Six-month partial suppression of Huntingtin is well tolerated in the adult rhesus striatum
Richard Grondin et al.
BRAIN (2012)
Widespread suppression of huntingtin with convection-enhanced delivery of siRNA
David K. Stiles et al.
EXPERIMENTAL NEUROLOGY (2012)
Sustained Therapeutic Reversal of Huntington's Disease by Transient Repression of Huntingtin Synthesis
Holly B. Kordasiewicz et al.
NEURON (2012)
Antisense oligonucleotide therapeutics for inherited neurodegenerative diseases
Amber L. Southwell et al.
TRENDS IN MOLECULAR MEDICINE (2012)
Stereocontrolled synthesis of oligonucleotide analogs containing chiral internucleotidic phosphorus atoms
Natsuhisa Oka et al.
CHEMICAL SOCIETY REVIEWS (2011)
An Overview of Sugar-Modified Oligonucleotides for Antisense Therapeutics
Thazha P. Prakash
CHEMISTRY & BIODIVERSITY (2011)
Mutant huntingtin causes defective actin remodeling during stress: defining a new role for transglutaminase 2 in neurodegenerative disease
Lise Munsie et al.
HUMAN MOLECULAR GENETICS (2011)
Huntington's disease: from molecular pathogenesis to clinical treatment
Christopher A. Ross et al.
LANCET NEUROLOGY (2011)
Potent and Selective Antisense Oligonucleotides Targeting Single-Nucleotide Polymorphisms in the Huntington Disease Gene/Allele-Specific Silencing of Mutant Huntingtin
Jeffrey B. Carroll et al.
MOLECULAR THERAPY (2011)
Preclinical Safety of RNAi-Mediated HTT Suppression in the Rhesus Macaque as a Potential Therapy for Huntington's Disease
Jodi L. McBride et al.
MOLECULAR THERAPY (2011)
Altered adult hippocampal neurogenesis in the YAC128 transgenic mouse model of Huntington disease
Jessica M. Simpson et al.
NEUROBIOLOGY OF DISEASE (2011)
Mitochondrial Network Determines Intracellular ROS Dynamics and Sensitivity to Oxidative Stress through Switching Inter-Mitochondrial Messengers
Junseong Park et al.
PLOS ONE (2011)
RNA Targeting Therapeutics: Molecular Mechanisms of Antisense Oligonucleotides as a Therapeutic Platform
C. Frank Bennett et al.
ANNUAL REVIEW OF PHARMACOLOGY AND TOXICOLOGY (2010)
Huntingtin Is Required for Mitotic Spindle Orientation and Mammalian Neurogenesis
Juliette D. Godin et al.
NEURON (2010)
CAG Expansion in the Huntington Disease Gene Is Associated with a Specific and Targetable Predisposing Haplogroup
Simon C. Warby et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Five siRNAs Targeting Three SNPs May Provide Therapy for Three-Quarters of Huntington's Disease Patients
Edith L. Pfister et al.
CURRENT BIOLOGY (2009)
Detection of Huntington's disease decades before diagnosis: the Predict-HD study
J. S. Paulsen et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2008)
Microstructural maturation of the human brain from childhood to adulthood
C. Lebel et al.
NEUROIMAGE (2008)
Huntingtin has a membrane association signal that can modulate huntingtin aggregation, nuclear entry and toxicity
Randy Singh Atwal et al.
HUMAN MOLECULAR GENETICS (2007)
CAG-encoded polyglutamine length polymorphism in the human genome
Stefanie L. Butland et al.
BMC GENOMICS (2007)
Enantiomeric impurities in chiral synthons, catalysts, and auxiliaries: Part 3
Ke Huang et al.
TETRAHEDRON-ASYMMETRY (2006)
Cleavage at the caspase-6 site is required for neuronal dysfunction and degeneration due to mutant huntingtin
Rona K. Graham et al.
CELL (2006)
Huntingtin-HAP40 complex is a novel Rab5 effector that regulates early endosome motility and is up-regulated in Huntington's disease
A Pal et al.
JOURNAL OF CELL BIOLOGY (2006)
Wild-type huntingtin protects neurons from excitotoxicity
BR Leavitt et al.
JOURNAL OF NEUROCHEMISTRY (2006)
Clinico-pathological rescue of a model mouse of Huntington's disease by siRNA
YL Wang et al.
NEUROSCIENCE RESEARCH (2005)
Intrastriatal rAAV-mediated delivery of anti-huntingtin shRNAs induces partial reversal of disease progression in R6/1 Huntington's disease transgenic mice
E Rodriguez-Lebron et al.
MOLECULAR THERAPY (2005)
Absence of behavioral abnormalities and neurodegeneration in vivo despite widespread neuronal huntingtin inclusions
EJ Slow et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)
RNA interference improves motor and neuropathological abnormalities in a Huntington's disease mouse model
SQ Harper et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)
Huntingtin controls neurotrophic support and survival of neurons by enhancing BDNF vesicular transport along microtubules
LR Gauthier et al.
CELL (2004)
Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease
L Djoussé et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2003)
Inactivation of Hdh in the brain and testis results in progressive neurodegeneration and sterility in mice
I Dragatsis et al.
NATURE GENETICS (2000)
Stereo-enriched phosphorothioate oligodeoxgnucleotides: Synthesis, biophysical and biological properties
D Yu et al.
BIOORGANIC & MEDICINAL CHEMISTRY (2000)
分享论文
