Article
Neuronal ceroid lipofuscinosis with DNAJC5/CSPα mutation has PPT1 pathology and exhibit aberrant protein palmitoylation.
Acta neuropathologica - 1 Apr 2016
Henderson Michael X, Wirak Gregory S, Zhang Yong-Quan, Dai Feng, Ginsberg Stephen D, Dolzhanskaya Natalia, Staropoli John F, Nijssen Peter C G, Lam TuKiet T, Roth Amy F, Davis Nicholas G, Dawson Glyn, Velinov Milen, Chandra Sreeganga S
Abstract excerpt
Neuronal ceroid lipofuscinoses (NCL) are a group of inherited neurodegenerative disorders with lysosomal pathology (CLN1-14). Recently, mutations in the DNAJC5/CLN4 gene, which encodes the presynaptic co-chaperone CSPα were shown to cause autosomal-dominant NCL. Although 14 NCL genes have been identified, it is unknown if they act in common disease pathways. Here we show that two disease-associated proteins, CSPα...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.