Neurogenetics Branch,
National Institute of Neurological Disorders and Stroke,
Neurogenetics Branch, National Institute of Neurological Disorders and Stroke
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Histone deacetylase inhibitors reduce polyglutamine toxicity.
Proceedings of the National Academy of Sciences of the United States of America Dec, 2001 | Pubmed ID: 11742087
Toxic proteins in neurodegenerative disease.
Science (New York, N.Y.) Jun, 2002 | Pubmed ID: 12065827
Altered acetylation in polyglutamine disease: an opportunity for therapeutic intervention?
Trends in molecular medicine May, 2002 | Pubmed ID: 12067622
Altered transcriptional regulation in cells expressing the expanded polyglutamine androgen receptor.
Human molecular genetics Aug, 2002 | Pubmed ID: 12165558
Mutant dynactin in motor neuron disease.
Nature genetics Apr, 2003 | Pubmed ID: 12627231
Aggresomes protect cells by enhancing the degradation of toxic polyglutamine-containing protein.
Human molecular genetics Apr, 2003 | Pubmed ID: 12651870
Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.
American journal of human genetics May, 2003 | Pubmed ID: 12690580
Aberrant histone acetylation, altered transcription, and retinal degeneration in a Drosophila model of polyglutamine disease are rescued by CREB-binding protein.
Genes & development Jun, 2003 | Pubmed ID: 12815067
A screen for drugs that protect against the cytotoxicity of polyglutamine-expanded androgen receptor.
Human molecular genetics Feb, 2004 | Pubmed ID: 14709594
Spinal muscular atrophy in the neonate.
Journal of obstetric, gynecologic, and neonatal nursing : JOGNN Jan-Feb, 2004 | Pubmed ID: 14971549
Distal spinal and bulbar muscular atrophy caused by dynactin mutation.
Annals of neurology May, 2005 | Pubmed ID: 15852399
Therapeutics development for triplet repeat expansion diseases.
Nature reviews. Genetics Oct, 2005 | Pubmed ID: 16205715
A motor neuron disease-associated mutation in p150Glued perturbs dynactin function and induces protein aggregation.
The Journal of cell biology Feb, 2006 | Pubmed ID: 16505168
Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons.
The Journal of neuroscience : the official journal of the Society for Neuroscience Oct, 2006 | Pubmed ID: 17035524
Akt blocks ligand binding and protects against expanded polyglutamine androgen receptor toxicity.
Human molecular genetics Jul, 2007 | Pubmed ID: 17470458
Safety, tolerability, and pharmacokinetics of high-dose idebenone in patients with Friedreich ataxia.
Archives of neurology Jun, 2007 | Pubmed ID: 17562928
Neurological effects of high-dose idebenone in patients with Friedreich's ataxia: a randomised, placebo-controlled trial.
The Lancet. Neurology Oct, 2007 | Pubmed ID: 17826341
A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20.
Human molecular genetics Dec, 2008 | Pubmed ID: 18801880
Regulation of SMN protein stability.
Molecular and cellular biology Mar, 2009 | Pubmed ID: 19103745
Polyglutamine-expanded androgen receptor truncation fragments activate a Bax-dependent apoptotic cascade mediated by DP5/Hrk.
The Journal of neuroscience : the official journal of the Society for Neuroscience Feb, 2009 | Pubmed ID: 19228953
Anti-androgen treatment for spinal and bulbar muscular atrophy.
Annals of neurology Feb, 2009 | Pubmed ID: 19259961
GARS axonopathy: not every neuron's cup of tRNA.
Trends in neurosciences Feb, 2010 | Pubmed ID: 20152552
Efficacy and safety of dutasteride in patients with spinal and bulbar muscular atrophy: a randomised placebo-controlled trial.
The Lancet. Neurology Feb, 2011 | Pubmed ID: 21216197
Clinical and genetic analysis of spinocerebellar ataxia in Mali.
European journal of neurology Oct, 2011 | Pubmed ID: 21418439
Genetic testing and counseling for hereditary neurological diseases in Mali.
Journal of community genetics Mar, 2011 | Pubmed ID: 22109722
Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels.
PLoS genetics Dec, 2011 | Pubmed ID: 22144914
Neurogenic and myogenic contributions to hereditary motor neuron disease.
Neuro-degenerative diseases , 2012 | Pubmed ID: 22327341
Developing treatment for spinal and bulbar muscular atrophy.
Progress in neurobiology Dec, 2012 | Pubmed ID: 22668795
A candidate gene for autoimmune myasthenia gravis.
Neurology Jul, 2012 | Pubmed ID: 22744667
Histone deacetylase inhibition suppresses myogenin-dependent atrogene activation in spinal muscular atrophy mice.
Human molecular genetics Oct, 2012 | Pubmed ID: 22798624
A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo.
Human mutation Jan, 2013 | Pubmed ID: 22930593
Insulinlike growth factor (IGF)-1 administration ameliorates disease manifestations in a mouse model of spinal and bulbar muscular atrophy.
Molecular medicine (Cambridge, Mass.) Dec, 2012 | Pubmed ID: 22952056
Novel mutation in the ATM gene in a Malian family with ataxia telangiectasia.
Journal of neurology Jan, 2013 | Pubmed ID: 23142947
Cowchock syndrome is associated with a mutation in apoptosis-inducing factor.
American journal of human genetics Dec, 2012 | Pubmed ID: 23217327
Common data elements for clinical research in Friedreich's ataxia.
Movement disorders : official journal of the Movement Disorder Society Feb, 2013 | Pubmed ID: 23239403
A role for androgen reduction treatment in Kennedy disease?
Muscle & nerve Jun, 2013 | Pubmed ID: 23408598
The E3 ubiquitin ligase mind bomb 1 ubiquitinates and promotes the degradation of survival of motor neuron protein.
Molecular biology of the cell Jun, 2013 | Pubmed ID: 23615451
Mechanisms, models and biomarkers in amyotrophic lateral sclerosis.
Amyotrophic lateral sclerosis & frontotemporal degeneration May, 2013 | Pubmed ID: 23678877
Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12.
Human mutation Oct, 2013 | Pubmed ID: 23857908
Z-disc-associated, alternatively spliced, PDZ motif-containing protein (ZASP) mutations in the actin-binding domain cause disruption of skeletal muscle actin filaments in myofibrillar myopathy.
The Journal of biological chemistry May, 2014 | Pubmed ID: 24668811
Muscle matters in Kennedy's disease.
Neuron Apr, 2014 | Pubmed ID: 24742452
Survival motor neuron protein deficiency impairs myotube formation by altering myogenic gene expression and focal adhesion dynamics.
Human molecular genetics Sep, 2014 | Pubmed ID: 24760765
Nicotinamide in Friedreich's ataxia: useful or not?
Lancet (London, England) Aug, 2014 | Pubmed ID: 24794818
CMT-associated mutations in glycyl- and tyrosyl-tRNA synthetases exhibit similar pattern of toxicity and share common genetic modifiers in Drosophila.
Neurobiology of disease Aug, 2014 | Pubmed ID: 24807208
Assessing function and endurance in adults with spinal and bulbar muscular atrophy: validity of the adult myopathy assessment tool.
Rehabilitation research and practice , 2014 | Pubmed ID: 24876969
Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat.
Neuromuscular disorders : NMD Nov, 2014 | Pubmed ID: 25047668
Results of a two-year pilot study of clinical outcome measures in collagen VI- and laminin alpha2-related congenital muscular dystrophies.
Neuromuscular disorders : NMD Jan, 2015 | Pubmed ID: 25307854
Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia.
JAMA neurology May, 2015 | Pubmed ID: 25751282
A functional scale for spinal and bulbar muscular atrophy: Cross-sectional and longitudinal study.
Neuromuscular disorders : NMD Jul, 2015 | Pubmed ID: 25913211
Proceedings of the fourth international conference on central hypoventilation.
Orphanet journal of rare diseases Dec, 2014 | Pubmed ID: 25928806
A randomized controlled trial of exercise in spinal and bulbar muscular atrophy.
Annals of clinical and translational neurology Jul, 2015 | Pubmed ID: 26273686
Epilepsy genetics in Africa: challenges and future perspectives.
North African and Middle East epilepsy journal Sep-Oct, 2014 | Pubmed ID: 26413584
Spinal and Bulbar Muscular Atrophy Overview.
Journal of molecular neuroscience : MN Mar, 2016 | Pubmed ID: 26547319
MiR-298 Counteracts Mutant Androgen Receptor Toxicity in Spinal and Bulbar Muscular Atrophy.
Molecular therapy : the journal of the American Society of Gene Therapy 05, 2016 | Pubmed ID: 26755334
CNS uptake of bortezomib is enhanced by P-glycoprotein inhibition: implications for spinal muscular atrophy.
Neurobiology of disease Apr, 2016 | Pubmed ID: 26792401
Genetics and genomic medicine in Mali: challenges and future perspectives.
Molecular genetics & genomic medicine Mar, 2016 | Pubmed ID: 27066513
Quantifying disease activity in fatty-infiltrated skeletal muscle by IDEAL-CPMG in Duchenne muscular dystrophy.
Neuromuscular disorders : NMD 10, 2016 | Pubmed ID: 27593185
ML372 blocks SMN ubiquitination and improves spinal muscular atrophy pathology in mice.
JCI insight Nov, 2016 | Pubmed ID: 27882347
Adenylyl cyclase activating polypeptide reduces phosphorylation and toxicity of the polyglutamine-expanded androgen receptor in spinobulbar muscular atrophy.
Science translational medicine 12, 2016 | Pubmed ID: 28003546
Upper arm and cardiac magnetic resonance imaging in Duchenne muscular dystrophy.
Annals of clinical and translational neurology Dec, 2016 | Pubmed ID: 28097207
A novel mutation in in a Malian family with spastic paraplegia and sensory loss.
Annals of clinical and translational neurology 04, 2017 | Pubmed ID: 28382308
Decreased Motor Neuron Support by SMA Astrocytes due to Diminished MCP1 Secretion.
The Journal of neuroscience : the official journal of the Society for Neuroscience May, 2017 | Pubmed ID: 28450545
Skeletal muscle water T as a biomarker of disease status and exercise effects in patients with Duchenne muscular dystrophy.
Neuromuscular disorders : NMD Aug, 2017 | Pubmed ID: 28601553
Patient-identified impact of symptoms in spinal and bulbar muscular atrophy.
Muscle & nerve Jan, 2018 | Pubmed ID: 28877556
Respiratory magnetic resonance imaging biomarkers in Duchenne muscular dystrophy.
Annals of clinical and translational neurology 09, 2017 | Pubmed ID: 28904987
X-linked Charcot-Marie-Tooth Disease and Connexin32.
Annals of the New York Academy of Sciences Oct, 1999 | Pubmed ID: 29086942
A Unique Mutation in Connexin32 Associated with Severe, Early Onset CMTX in a Heterozygous Female.
Annals of the New York Academy of Sciences Oct, 1999 | Pubmed ID: 29086962
The polyglutamine-expanded androgen receptor has increased DNA binding and reduced transcriptional activity.
Biochemistry and biophysics reports Sep, 2015 | Pubmed ID: 29124176
Senataxin Mutation Reveals How R-Loops Promote Transcription by Blocking DNA Methylation at Gene Promoters.
Molecular cell Feb, 2018 | Pubmed ID: 29395064
Spinal muscular atrophy.
Handbook of clinical neurology , 2018 | Pubmed ID: 29478602
Naemeh Pourshafie1,
Philip R. Lee2,
Ke-lian Chen1,
George G. Harmison1,
Laura C. Bott1,3,
Kenneth H. Fischbeck1,
Carlo Rinaldi1,4
1Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health,
2Section on Nervous System Development and Plasticity, The Eunice Kennedy Shriver National Institute of Child and Human Development, National Institutes of Health,
3Department of Molecular Biosciences, Rice Institute for Biomedical Research, Northwestern University,
4Department of Physiology, Anatomy and Genetics, University of Oxford
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