3 Result(s)
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Spencer U. McKinstry
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Article
Open AccessSenataxin helicase, the causal gene defect in ALS4, is a significant modifier of C9orf72 ALS G4C2 and arginine-containing dipeptide repeat toxicity
Identifying genetic modifiers of familial amyotrophic lateral sclerosis (ALS) may reveal targets for therapeutic modulation with potential application to sporadic ALS. GGGGCC (G4C2) repeat expansions in the C9orf...
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Article
Open AccessSmall molecule inhibition of RAS/MAPK signaling ameliorates developmental pathologies of Kabuki Syndrome
Kabuki Syndrome (KS) is a rare disorder characterized by distinctive facial features, short stature, skeletal abnormalities, and neurodevelopmental deficits. Previously, we showed that loss of function of RAP1...
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Article
Open AccessAbnormal degradation of the neuronal stress-protective transcription factor HSF1 in Huntington’s disease
Huntington’s Disease (HD) is a neurodegenerative disease caused by poly-glutamine expansion in the Htt protein, resulting in Htt misfolding and cell death. Expression of the cellular protein folding and pro-su...
