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Publications -  Neurogenetics Branch

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

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  82 652-660 2008

Avila AM, Burnett BG, Taye AA, Gabanella F, Knight MA, Hartenstein P, Cizman Z, DiProspero NA, Pellizoni L, Fischbeck KH, Sumner CJ
Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy - J Clin Invest   117 659-671 2007

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  64 803-808 2007

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 1593-1603 2007

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  6 878-886 2007

Levy JR, Sumner CJ, Caviston JP, Tokito MK, Ranganathan S, Ligon LA, Wallace KE, LaMonte BH, Harmison GG, Puls I, Fischbeck KH, Holzbaur EL
A motor neuron disease-associated mutation in p150 perturbs dynactin function and induces protein aggregation - J Cell Biol  172 733-745 2006

Sumner CJ, Kolb SJ, Harmison GG, Jeffries NO, Schadt K, Finkel RS, Dreyfuss G, Fischbeck KH
SMN mRNA and protein levels in the peripheral blood: Biomarkers for SMA clinical trials - Neurology  66 1067-1073 2006

Di Prospero NA, Fischbeck KH
Therapeutics development for triplet repeat expansion diseases - Nature Rev Genet  6 756-765 2005

Kernochan LE, Russo ML, Woodling NS, Huynh TN, Avila A, Fischbeck KH, Sumner CJ
The role of histone acetylation in SMN gene expression - Hum Molec Genet  14 1171-1182 2005

Puls I, Oh SJ, Sumner C, Wallace KE, Floeter MK, Mann EA, Kennedy WR, Wendelschafer-Crabb G, Vortmeyer A, Powers R, Finnegan K, Holzbaur ELF, Fischbeck KH, Ludlow CL
Distal spinal and bulbar muscular atrophy caused by dynactin mutation - Ann Neurol  57 687-694 2005

Verbeek DS, Knight MA, Harmison GG, Fischbeck KH, Howell BW
Spinocerebellar ataxia 14 mutations in protein kinase C gamma increase activity and alter membrane targeting - Brain  128 436-442 2005

Chen YZ, Bennett CL, Huynh HM, Blair IP, Puls I, Irobi J, Dierick I, Abel A, Kennerson ML, Rabin BA, Nicholson GA, Auer-Grumbach M, Wagner K, De Jonghe P, Griffin JW, Fischbeck KH, Timmerman V, Cornblath DR, Chance PF
DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4) - Am J Hum Genet   74 1128-1135 2004

Piccioni F, Roman BR, Fischbeck KH, Taylor JP
A screen for drugs that protect against the cytotoxicity of polyglutamine-expanded androgen receptor - Hum Molec Genet   13 437-446 2004

Antonellis A, Ellsworth RE, Sambuughin N, Puls I, Abel A, Lee-Lin SQ, Jordanova A, Kremensky I, Christadoulou K, Middleton LT, Sivakumar K, Ionasescu V, Funalot B, Vance JM, Goldfarb LG, Fischbeck KH, Green ED
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

Sumner CJ, Huynh TN, Markowitz JA, Perhac JS, Hill B, Coovert DD, Schussler K, Chen X, Jarecki J, Burghes AHM, Taylor JP, Fischbeck KH
Valproic acid increases SMN levels in spinal muscular atrophy patient-derived cell lines - Ann Neurol  54 647-654 2003

Puls I, Jonnakuty C, LaMonte BH, Holzbaur ELF, Tokito M, Mann E, Floeter MK, Bidus K, Drayna D, Oh SJ, Brown RH, Ludlow CL, Fischbeck KH
Mutant dynactin in motor neuron disease - Nature Genet  33 455-456 2003

Taylor JP, Taye AA, Campbell C, Kazemi-Esfarjani P, Fischbeck KH, Min KT
Aberrant histone acetylation, altered transcription, and retinal degeneration in a Drosophila model of polyglutamine disease are rescued by CREB-binding protein - Genes Devel   17 1463-1468 2003

Lieberman AP, Harmison G, Strand AD, Olson JM, Fischbeck KH
Altered transcriptional regulation in cells expressing the expanded polyglutamine androgen receptor - Hum Molec Genet   11 1967-1976 2002

Taylor JP, Hardy J, Fischbeck KH
Toxic proteins in neurodegenerative disease - Science   296 1991-1995 2002

McCampbell A, Taye AA, Whitty L, Penney E, Steffan JS, Fischbeck KH
Histone deacetylase inhibitors reduce polyglutamine toxicity - Proc Natl Acad Sci USA   98 15179-15184 2001

Wagner KR, Hamed SA, Hadley DW, Gropman AL, Burstein AH, Escolar D, Hoffman EP, Fischbeck KH
Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations - Ann Neurol   49 706-711 2001

McCampbell A, Taylor JP, Taye AA, Robitschek J, Li M, Walcott J, Merry D, Sobue G, Fischbeck KH
CREB-binding protein sequestration by expanded polyglutamine - Hum Molec Genet   9 2197-2202 2000

Fischbeck KH, Lieberman A, Bailey CK, Abel A, Merry DE
Androgen receptor mutation in Kennedy's disease - Phil Trans R Soc Lond  354 1075-1078 1999

Merry DE, Kobayashi Y, Bailey CK, Taye AA, Fischbeck KH
Cleavage, aggregation and toxicity of the expanded androgen receptor in spinal and bulbar muscular atrophy - Hum Molec Genet  7 693-701 1998

Warrick JM, Paulson HL, Gray-Board GL, Bui QT, Fischbeck KH, Pittman RN, Bonini NM
Expanded polyglutamine protein forms nuclear inclusions and causes neural degeneration in Drosophila - Cell  93 939-949 1998

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