Kenneth H. Fischbeck

Neurogenetics Branch, National Institutes of Health

Affiliated withNational Institutes of Health

Research Area

Biography

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JoVE Journal Publications

ArticleTotal : 1	Year
Publication title Cited by 9	2018

Other Publications

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