Neuronal ceroid lipofuscinosis with DNAJC5/CSP mutations have PPT1 pathology and exhibit aberrant protein palmitoylation

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 CSP were shown to cause autosomal-dominant NCL. Although 14 NCL genes have been identi...

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Detalhes bibliográficos
Publicado no:Acta Neuropathol
Main Authors: Henderson, Michael X., Wirak, Gregory S., Zhang, Yong-quan, Dai, Feng, Ginsberg, Stephen D., Dolzhanskaya, Natalia, Staropoli, John F., Nijssen, Peter CG, Lam, TuKiet T, Roth, Amy F., Davis, Nicholas G., Dawson, Glyn, Velinov, Milen, Chandra, Sreeganga S.
Formato: Artigo
Idioma:Inglês
Publicado em: 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4791186/
https://ncbi.nlm.nih.gov/pubmed/26659577
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00401-015-1512-2
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