Article
Reversal of pathology in CHMP2B-mediated frontotemporal dementia patient cells using RNA interference.
The journal of gene medicine - 1 Aug 2012
Nielsen Troels Tolstrup, Mizielinska Sarah, Hasholt Lis, Isaacs Adrian M, Nielsen Jørgen E
Abstract excerpt
BACKGROUND: Frontotemporal dementia is the second most common form of young-onset dementia after Alzheimer's disease, and several genetic forms of frontotemporal dementia are known. A rare genetic variant is caused by a point mutation in the CHMP2B gene. CHMP2B is a component of the ESCRT-III complex, which is involved in endosomal trafficking of proteins targeted for degradation in lysosomes. Mutations in CHMP2B...
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