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- Publications
- Influence
CREB-binding protein sequestration by expanded polyglutamine.
- A. McCampbell, J. Taylor, +8 authors K. Fischbeck
- Biology, Medicine
- Human molecular genetics
- 1 September 2000
Spinal and bulbar muscular atrophy (SBMA) is one of eight inherited neurodegenerative diseases known to be caused by CAG repeat expansion. The expansion results in an expanded polyglutamine tract,… Expand
Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy.
- A. M. Avila, B. Burnett, +8 authors C. Sumner
- Biology, Medicine
- The Journal of clinical investigation
- 1 March 2007
The inherited motor neuron disease spinal muscular atrophy (SMA) is caused by mutation of the telomeric survival motor neuron 1 (SMN1) gene with retention of the centromeric SMN2 gene. We sought to… Expand
Aggresomes protect cells by enhancing the degradation of toxic polyglutamine-containing protein.
- J. Taylor, F. Tanaka, +4 authors K. Fischbeck
- Biology, Medicine
- Human molecular genetics
- 1 April 2003
Expression of misfolded protein in cultured cells frequently leads to the formation of juxtanuclear inclusions that have been termed 'aggresomes'. Aggresome formation is an active cellular response… Expand
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C
- G. Landouré, A. Zdebik, +17 authors C. Sumner
- Medicine, Biology
- Nature Genetics
- 1 February 2010
Charcot-Marie-Tooth disease type 2C (CMT2C) is an autosomal dominant neuropathy characterized by limb, diaphragm and laryngeal muscle weakness. Two unrelated families with CMT2C showed significant… Expand
Aberrant histone acetylation, altered transcription, and retinal degeneration in a Drosophila model of polyglutamine disease are rescued by CREB-binding protein.
- J. Taylor, A. Taye, C. Campbell, P. Kazemi-Esfarjani, K. Fischbeck, K. Min
- Biology, Medicine
- Genes & development
- 15 June 2003
Sequestration of the transcriptional coactivator CREB-binding protein (CBP), a histone acetyltransferase, has been implicated in the pathogenesis of polyglutamine expansion neurodegenerative disease.… Expand
Cleavage, aggregation and toxicity of the expanded androgen receptor in spinal and bulbar muscular atrophy.
- D. Merry, Y. Kobayashi, C. K. Bailey, A. Taye, K. Fischbeck
- Biology, Medicine
- Human molecular genetics
- 1 April 1998
Spinal and bulbar muscular atrophy (SBMA) is a neurodegenerative disease caused by the expansion of a polyglutamine repeat within the androgen receptor (AR). We have studied the mutant AR in an in… Expand
Histone deacetylase inhibitors reduce polyglutamine toxicity
- A. McCampbell, A. Taye, L. Whitty, E. Penney, J. Steffan, K. Fischbeck
- Biology, Medicine
- Proceedings of the National Academy of Sciences…
- 11 December 2001
Polyglutamine diseases include at least nine neurodegenerative disorders, each caused by a CAG repeat expansion in a different gene. Accumulation of mutant polyglutamine-containing proteins occurs in… Expand
Sustained improvement of spinal muscular atrophy mice treated with trichostatin a plus nutrition
- H. L. Narver, L. Kong, +5 authors C. Sumner
- Medicine
- Annals of neurology
- 1 October 2008
Early treatment with the histone deacetylase inhibitor, trichostatin A, plus nutritional support extended median survival of spinal muscular atrophy mice by 170%. Treated mice continued to gain… Expand
A candidate gene for autoimmune myasthenia gravis
- G. Landouré, M. Knight, +14 authors B. Burnett
- Biology, Medicine
- Neurology
- 24 July 2012
Objective: We sought to identify a causative mutation in a previously reported kindred with parental consanguinity and 5 of 10 siblings with adult-onset autoimmune myasthenia gravis. Methods: We… Expand
Onchocerciasis in Gilgel Ghibe River Valley southwest Ethiopia.
- A. Taye, T. Gebremichael, S. Taticheff
- Biology, Medicine
- East African medical journal
- 8 October 2009
OBJECTIVE
To determine the prevalence of onchocerciasis and the entomological transmission indices such as the parous rate and annual transmission potential (ATP).
SETTING
Gilgel Ghibe village,… Expand