A cluster of palmitoylated cysteines are essential for aggregation of cysteine-string protein mutants that cause neuronal ceroid lipofuscinosis

Autosomal-dominant adult-onset neuronal ceroid lipofuscinosis (ANCL) is caused by mutation of the DNAJC5 gene encoding cysteine string protein alpha (CSPα). The disease-causing mutations, which result in substitution of leucine-115 with an arginine (L115R) or deletion of the neighbouring leucine-116...

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Detalles Bibliográficos
Autores principales: Diez-Ardanuy, Cinta, Greaves, Jennifer, Munro, Kevin R., Tomkinson, Nicholas C. O., Chamberlain, Luke H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5428344/
https://www.ncbi.nlm.nih.gov/pubmed/28127059
http://dx.doi.org/10.1038/s41598-017-00036-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5428344/
https://www.ncbi.nlm.nih.gov/pubmed/28127059
http://dx.doi.org/10.1038/s41598-017-00036-8

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