Kenneth H. Fischbeck, M.D.

Adjunct Investigator, National Human Genome Research Institute
Senior Investigator, National Institute of Neurological Disorders and Stroke [ninds.nih.gov]

Selected Publications

Verbeek, D.S., Knight, M.A., Harmison, G.G., Fischbeck, K.H., Howell, B.W. Spinocerebellar ataxia 14 mutations in protein kinase C gamma increase activity and alter membrane targeting. Brain 128:436-442, 2005. [PubMed]

Puls, I., Oh, S.J., Sumner, C., Wallace, K.E., Floeter, M.K., Mann, E.A., Kennedy, W.R., Wendelschafer-Crabb, G., Vortmeyer, A., Powers, R., Finnegan, K., Holzbaur, E.L.F., Fischbeck, K.H., Ludlow, C.L. Distal spinal and bulbar muscular atrophy caused by dynactin mutation. Ann Neurol, 57: 687-694. 2005. [PubMed]

Kernochan, L.E., Russo, M.L., Woodling, N.S., Huynh, T.N., Avila, A., Fischbeck, K.H., Sumner, C.J. The role of histone acetylation in SMN gene expression. Hum Molec Genet, 14:1171-1182. 2005. [PubMed]

Di Prospero, N.A., Fischbeck, K.H. Therapeutics development for triplet repeat expansion diseases. Nature Rev Genet, 6:756-765. 2005. [PubMed]

Sumner, C.J., Kolb, S.J., Harmison, G.G., Jeffries, N.O., Schadt, K., Finkel, R.S., Dreyfuss, G., Fischbeck, K.H. SMN mRNA and protein levels in the peripheral blood: Biomarkers for SMA clinical trials. Neurology, 66:1067-1073. 2006. [PubMed]

Levy, J.R., Sumner, C.J., Caviston, J.P., Tokito, M.K., Ranganathan, S., Ligon, L.A., Wallace, K.E., LaMonte, B.H., Harmison, G.G., Puls, I., Fischbeck, K.H., Holzbaur, E.L. A motor neuron disease-associated mutation in p150 perturbs dynactin function and induces protein aggregation. J Cell Biol, 172:733-745. 2006. [PubMed]

Palazzolo I, Burnett BG, Young JE, Brenne PL, La Spada AR, Fischbeck KH, Howell BW, Pennuto M. Akt blocks ligand binding and protects against expanded polyglutamine androgen receptor toxicity. Hum Molec Genet, 16(13):1593-1603. 2007. [PubMed]

Di Prospero NA, Sumner CJ, Penzak SR, Ravina B, Fischbeck KH, Taylor JP. Safety, tolerability, and pharmacokinetics of high-dose idebenone in patients with Friedreich's ataxia. Arch Neurol, 64(6):803-8. 2007. [PubMed]

Avila, A.M., Burnett, B.G., Taye, A.A., Gabanella, F., Knight, M.A., Hartenstein, P., Cizman, Z., DiProspero, N.A., Pellizoni, L., Fischbeck, K.H., Sumner, C.J. Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy. J Clin Invest, 117:659-671. 2007. [PubMed]

Di Prospero NA, Baker A, Jeffries N, Fischbeck KH. Neurological effects of high-dose idebenone in patients with Friedreich's ataxia: a randomised, placebo-controlled trial. Lancet Neurology, 6(10):878-86. 2007. [PubMed]

Mochel F, Knight MA, Tong WH, Hernandez D, Ayyad K, Taivassalo T, Andersen PM, Singleton A, Rouault TA, Fischbeck KH, Haller RG. Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance. Am J Hum Genet, 82(3):652-60. 2008. [PubMed]

Burnett BG, Andrews J, Ranganathan S, Fischbeck KH, Di Prospero NA Expression of expanded polyglutamine targets profilin for degradation and alters actin dynamics. Neurobiol Disease,30,365-374. 2008. [PubMed]

Knight MA, Hernandez D, Diede SJ, Dauwerse HG, Rafferty I, van de Leemput J, Forrest SM, Gardner RJM, Storey E, van Ommen GJ, Tapscott SJ, Fischbeck KH, Singleton AB. A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20. Hum Molec Genet, 17(24):3847-3853. 2008. [PubMed]

Burnett BG, Munoz E, Tandon A, Kwon D, Sumner CJ, Fischbeck KH. Regulation of SMN protein stability. Mol Cell Biol,  29(5):1107-1115. 2009 [PubMed]

Ranganathan S, Harmison GG, Meyertholen K, Pennuto M, Burnett BG, Fischbeck KH. Mitochondrial abnormalities in spinal and bulbar muscular atrophy. Hum Molec Genet,  18(1): 27-42. 2009. [PubMed]

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Last Updated: April 15, 2009