Niemann-Pick Type C1 I1061T Mutant Encodes a Functional Protein That Is Selected for Endoplasmic Reticulum-associated Degradation Due to Protein Misfolding

Over 200 disease-causing mutations have been identified in the NPC1 gene. The most prevalent mutation, NPC1(I1061T), is predicted to lie within the cysteine-rich luminal domain and is associated with the classic juvenile-onset phenotype of Niemann-Pick type C disease. To gain insight into the molecu...

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Autori principali: Gelsthorpe, Mark E., Baumann, Nikola, Millard, Elizabeth, Gale, Sarah E., Langmade, S. Joshua, Schaffer, Jean E., Ory, Daniel S.
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society for Biochemistry and Molecular Biology 2008
Soggetti:
Protein Structure and Folding
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2276376/
https://ncbi.nlm.nih.gov/pubmed/18216017
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M708735200
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