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Neurogenetics Branch - Division of Intramural Research


Kwon DY, Dimitriadi M, Terzic B, Cable C, Hart AC, Chitnis A, Fischbeck KH, Burnett BG
The E3 ubiquitin ligase mind bomb 1 ubiquitinates and promotes the degradation of survival of motor neuron protein, Mol Biol Cell, 2013, vol. 24, pp. 1863-1871. Full Text/Abstract

Landoure G, Zhu PP, Lourenco CM, Johnson JO, Toro C, Bricceno KV, Rinaldi C, Meilleur KG, Sangare M, Diallo O, Pierson TM, Ishiura H, Tsuji S, Hein N, Fink JK, Stoll M, Nicholson G, Gonzalez M, Speziani F, Durr A, Stevanin G, Biesecker LG, Accardi J, Landis DMD, Gahl WA, Traynor BJ, Marques W, Zuchner S, Blackstone C, Fischbeck KH, Burnett BG
Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12, Hum Mutat, 2013, vol. 34, pp. 1357-1360. Full Text/Abstract


Bricceno K, Fischbeck K, Burnett B
Neurogenic and myogenic contributions to hereditary motor neuron disease, Neurodegener Dis, 2012, vol. 9, pp. 199-209. Full Text/Abstract

Rinaldi C, Bott LC, Chen K, Harmison GG, Pennuto M, Fischbeck KH
IGF-1 administration ameliorates disease manifestations in a mouse model of spinal and bulbar muscular atrophy, Mol Med, 2012, vol. 18, pp. 1261-1268,. Full Text/Abstract

Bricceno KV, Sampognaro PJ, Van Meerbeke JP, Sumner CJ, Fischbeck KH, Burnett BG
Histone deacetylase inhibition suppresses myogenin-dependent atrogene activation in spinal muscular atrophy mice, Hum Mol Genet, 2012, vol. 21, pp. 4448-4459. Full Text/Abstract

Landoure G, Knight MA, Stanescu H, Taye AA, Shi Y, Diallo O, Johnson JO, Hernandez D, Traynor BJ, Biesecker LG, Elkahoun A, Rinaldi C, Vincent A, Willcox N, Kleta R, Fischbeck KH, Burnett BG
A candidate gene for autoimmune myasthenia gravis, Neurology, 2012, vol. 79, pp. 342-345. Full Text/Abstract

Rinaldi C, Grunseich C, Sevrioukova IF, Schindler A, Horkayne-Szakaly I, Lamperti C, Landoure G, Kennerson ML, Burnett BG, Biesecker L, Ghezzi D, Zeviani M, Fischbeck KH
Cowchock syndrome is associated with a mutation in apoptosis-inducing factor, Am J Hum Genet, 2012, vol. 91, pp. 1095-1102. Full Text/Abstract

Fischbeck KH
Developing treatment for spinal and bulbar muscular atrophy, Progr Neurobiol, 2012, vol. 99, pp. 257-261. Full Text/Abstract


Fernandez-Rhodes LE, Kokkinis AD, White MJ, Watts CA, Auh S, Jeffries NO, Shrader JA, Lehky TJ, Li L, Ryder JE, Levy EW, Solomon BI, Harris-Love MO, La Pean A, Schindler AB, Chen CJ, Di Prospero NA, Fischbeck KH
Efficacy and safety of dutasteride in patients with spinal and bulbar muscular atrophy: a randomised placebo-controlled trial, Lancet Neurol, 2011, vol. 10, pp. 140-147. Full Text/Abstract

Kwon DY, Motley WW, Fischbeck KH, Burnett BG
Increasing expression and decreasing degradation of SMN ameliorate the spinal muscular atrophy phenotype in mice, Hum Molec Genet, 2011, vol. 20, pp. 3667-3677. Full Text/Abstract

Motley WW, Seburn KL, Nawaz MH, Miers KE, Cheng J, Antonellis A, Green ED, Talbot K, Yang XL, Fischbeck KH, Burgess RW
Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild type GARS levels, PLoS Genet, 2011, vol. 7, pp. e1002399. Full Text/Abstract


Landoure G, Zdebik AA, Martinez TL, Burnett BG, Stanescu HC, Inada H, Shi Y, Taye AA, Kong L, Munns CH, Choo SS, Phelps CB, Paudel R, Houlden H, Ludlow CL, Caterina MJ, Gaudet R, Kleta R, Fischbeck KH, Sumner CJ
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C, Nature Genet, 2010, vol. 42, pp. 170-174. Full Text/Abstract

Palazzolo I, Nedelsky NB, Askew CE, Harmison GG, Kasantsev AG, Taylor JP, Fischbeck KH, Pennuto M
B2 attenuates polyglutamine-expanded androgen receptor toxicity in cell and fly models of spinal and bulbar muscular atrophy, J Neurosci Res, 2010, vol. 88, pp. 2207-2216. Full Text/Abstract

Meilleur KG, Traore M, Sangare M, Britton A, Landoure G, Coulibaly S, Niare B, Mochel F, La Pean A, Rafferty I, Watts C, Shriner D, Littleton-Kearney MT, Blackstone C, Singleton A, Fischbeck KH
Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19, Neurogenetics, 2010, vol. 11, pp. 313-318. Full Text/Abstract

Motley WW, Talbot K, Fischbeck KH
GARS axonopathy: not every neuron's cup of tRNA, Trends Neurosci, 2010, vol. 33, pp. 59-66. Full Text/Abstract

Ranganathan S, Fischbeck KH
Therapeutic approaches to spinal and bulbar muscular atrophy, Trends Pharmacol Sci, 2010, vol. 31, pp. 523-527. Full Text/Abstract


Rhodes LE, Freeman BK, Auh S, Kokkinis AD, La Pean A, Chen C, Lehky TJ, Schrader JA, Levy EW, Harris-Love M, Di Prospero NA, Fischbeck KH
Clinical features of spinal and bulbar muscular atrophy, Brain, 2009, vol. 132, pp. 3242-3251. Full Text/Abstract

Ranganathan S, Harmison GG, Meyertholen K, Pennuto M, Burnett BG, Fischbeck KH
Mitochondrial abnormalities in spinal and bulbar muscular atrophy, Hum Molec Genet, 2009, vol. 18, pp. 27-42. Full Text/Abstract

Burnett BG, Munoz E, Tandon A, Kwon D, Sumner CJ, Fischbeck KH
Regulation of SMN protein stability, Mol Cell Biol, 2009, vol. 29, pp. 1107-1115. Full Text/Abstract

Palazzolo I, Stack C, Kong L, Musaro A, Adachi H, Katsuno M, Sobue G, Taylor JP, Sumner CJ, Fischbeck KH, Pennuto M
Overexpression of IGF-1 in muscle attenuates disease in a mouse model of spinal and bulbar muscular atrophy, Neuron, 2009, vol. 63, pp. 316-328. Full Text/Abstract

Traore M, Landoure G, Motley W, Sangare M, Meilleur K, Coulibaly S, Traore S, Niare B, Mochel F, La Pean A, Vortmeyer A, Mani H, Fischbeck KH
Novel mutation in the NHLRC1 gene in a Malian family with a severe phenotype of Lafora disease, Neurogenetics, 2009, vol. 10, pp. 319-323. Full Text/Abstract


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, 2008, vol. 17, pp. 3847-3853. Full Text/Abstract

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, 2008, vol. 30, pp. 365-374. Full Text/Abstract

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, 2008, vol. 82, pp. 652-660. Full Text/Abstract


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, 2007, vol. 6, pp. 878-886. Full Text/Abstract

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, 2007, vol. 117, pp. 659-671. Full Text/Abstract

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, 2007, vol. 64, pp. 803-808. Full Text/Abstract

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, 2007, vol. 16, pp. 1593-1603. Full Text/Abstract


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, 2006, vol. 66, pp. 1067-1073. Full Text/Abstract

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, 2006, vol. 172, pp. 733-745. Full Text/Abstract


Sivakumar K, Kyriakides T, Puls I, Nicholson GA, Funalot B, Antonellis A, Sambuughin N, Christodoulou K, Beggs JL, Zamba-Papanicolaou E, Ionasescu V, Dalakas MC, Green ED, Fischbeck KH, Goldfarb LG
Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations, Brain, 2005, vol. 128, pp. 2304-2314. Full Text/Abstract

Di Prospero NA, Fischbeck KH
Therapeutics development for triplet repeat expansion diseases, Nature Rev Genet, 2005, vol. 6, pp. 756-765. Full Text/Abstract

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, 2005, vol. 14, pp. 1171-1182. Full Text/Abstract

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, 2005, vol. 57, pp. 687-694. Full Text/Abstract

Liang GSL, de Miguel M, Gomez-Hernandez JM, Glass JD, Scherer SS, Barrio LC, Fischbeck KH
Severe neuropathy with leaky connexin32 hemichannels, Ann Neurol, 2005, vol. 57, pp. 749-754. Full Text/Abstract

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, 2005, vol. 128, pp. 436-442. Full Text/Abstract

Scherer SS, Xu YT, Messing A, Willecke K, Fischbeck KH, Jeng LJB
Transgenic expression of human connexin32 in myelinating Schwann cells prevents demyelination in connexin32-null mice, J Neurosci, 2005, vol. 25, pp. 1550-1559. Full Text/Abstract


The US-Venezuela Collaborative Research Project
Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset, Proc Natl Acad Sci USA, 2004, vol. 101, pp. 3498-3503.

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, 2004, vol. 13, pp. 437-446. Full Text/Abstract

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, 2004, vol. 74, pp. 1128-1135. Full Text/Abstract


Taylor JP, Tanaka F, Robitschek J, Sandoval CM, Taye A, Markovic-Plese S, Fischbeck KH
Aggresomes protect cells by enhancing the degradation of toxic polyglutamine-containing protein, Hum Molec Genet, 2003, vol. 12, pp. 749-757. Full Text/Abstract

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, 2003, vol. 72, pp. 1293-1299. Full Text/Abstract

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, 2003, vol. 54, pp. 647-654. Full Text/Abstract

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, 2003, vol. 33, pp. 455-456. Full Text/Abstract

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, 2003, vol. 17, pp. 1463-1468. Full Text/Abstract


Caplen NJ, Taylor JP, Statham VS, Tanaka F, Fire AW, Morgan RA
Rescue of polyglutamine mediated cytotoxicity by double stranded RNA mediated RNA interference, Hum Molec Genet, 2002, vol. 11, pp. 175-184. Full Text/Abstract

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

Hara H, Nolan PM, Scott MO, Bucan M, Wakayama Y, Fischbeck KH
Running endurance abnormality in mdx mice, Muscle Nerve, 2002, vol. 25, pp. 207-211. Full Text/Abstract

Taylor JP, Fischbeck KH
Altered acetylation in polyglutamine disease: an opportunity for therapeutic intervention?, Trends Molec Med, 2002, vol. 8, pp. 195-197. Full Text/Abstract

Taylor JP, Hardy J, Fischbeck KH
Toxic proteins in neurodegenerative disease, Science, 2002, vol. 296, pp. 1991-1995. Full Text/Abstract


Lieberman AP, Puls I, Fischbeck KH
Mining the genome for causes and cures of neurologic disease, Trends Pharmacol Sci, 2001, vol. 22, pp. 161-162. Full Text/Abstract

McCampbell A, Fischbeck KH
Polyglutamine and CBP: Fatal attraction?, Nature Med, 2001, vol. 7, pp. 528-530. Full Text/Abstract

Fischbeck KH
Polyglutamine expansion neurodegenerative disease, Brain Res Bull, 2001, vol. 56, pp. 161-163. Full Text/Abstract

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

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, 2001, vol. 49, pp. 706-711. Full Text/Abstract


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, 2000, vol. 9, pp. 2197-2202.


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


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, 1998, vol. 7, pp. 693-701.

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, 1998, vol. 93, pp. 939-949.

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