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Kenneth H. Fischbeck, M.D.
Selected Publications
Sumner, C.J., Huynh, T.N., Markowitz, J.A., Perhac, J.S., Hill, B., Coovert, D.D., Schussler, K., Chen, X., Jarecki, J., Burghes, A.H.M., Taylor, J.P., Fischbeck, K.H. Valproic acid increases SMN levels in spinal muscular atrophy patient cell lines. Ann Neurol, 55: 647-654. 2003. [PubMed]
Puls, I., Jonnakuty, C., LaMonte, B.H., Holzbaur, E.L.F., Tokito, M., Mann, E., Floeter, M.K., Bidus, K., Drayna, D., Oh, S.J., Brown, R.H., Ludlow, C.L., Fischbeck, K.H. Mutant dynactin in motor neuron disease. Nature Genet, 33: 455-456. 2003. [PubMed]
Antonellis, A., Ellsworth, R.E., Sambuughin, N., Puls, I., Abel, A., Lee-Lin, S.Q., Jordanova, A., Kremensky, I., Christadoulou, K., Middleton, L.T., Sivakumar, K., Ionasescu, V., Funalot, B., Vance, J.M., Goldfarb, L.G., Fischbeck, K.H., Green, E.D. Glycyl tRNA synthetase mutations are responsible for Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. Am J Hum Genet, 72: 1293-1299. 2003. [PubMed]
Chen, Y.Z., Bennett,C.L., Huynh, H.M., Blair, I.P., Puls, I., Irobi, J., Dierick, I.,
Abel, A., Kennerson, M.L., Rabin, B.A., Nicholson, G.A., Auer-Grumbach, M., Wagner, K.,
De Jonghe, P., Griffin, J.W., Fischbeck, K.H., Timmerman, V., Cornblath, D.R., Chance,
P.F. DNA/RNA helicase gene mutations in a form of juvenile
amyotrophic lateral sclerosis (ALS4). Am J Hum Genet, 74: 1128-1135. 2004. [PubMed]
Piccioni, F., Roman, B.R., Fischbeck, K.H., Taylor, J.P. A screen for drugs that protect against the cytotoxicity of polyglutamine-expanded androgen receptor. Hum Molec Genet, 13: 437-446. 2004. [PubMed]
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. [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]
Last Updated: April 4, 2008
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