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CREB-binding protein sequestration by expanded polyglutamine.
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
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Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy.
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 toExpand
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Aggresomes protect cells by enhancing the degradation of toxic polyglutamine-containing protein.
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 responseExpand
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Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C
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 significantExpand
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Aberrant histone acetylation, altered transcription, and retinal degeneration in a Drosophila model of polyglutamine disease are rescued by CREB-binding protein.
Sequestration of the transcriptional coactivator CREB-binding protein (CBP), a histone acetyltransferase, has been implicated in the pathogenesis of polyglutamine expansion neurodegenerative disease.Expand
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Cleavage, aggregation and toxicity of the expanded androgen receptor in spinal and bulbar muscular atrophy.
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 inExpand
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Histone deacetylase inhibitors reduce polyglutamine toxicity
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 inExpand
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Sustained improvement of spinal muscular atrophy mice treated with trichostatin a plus nutrition
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 gainExpand
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A candidate gene for autoimmune myasthenia gravis
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: WeExpand
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Onchocerciasis in Gilgel Ghibe River Valley southwest Ethiopia.
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
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