A carregar...

Quantitative Proteomics of Human Fibroblasts with I1061T Mutation in Niemann–Pick C1 (NPC1) Protein Provides Insights into the Disease Pathogenesis

Niemann-Pick type C (NPC) disease is a fatal neurodegenerative disorder characterized by the accumulation of unesterified cholesterol in the late endosomal/lysosomal compartments. Mutations in the NPC1 protein are implicated in 95% of patients with NPC disease. The most prevalent mutation is the mis...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Mol Cell Proteomics
Main Authors: Rauniyar, Navin, Subramanian, Kanagaraj, Lavallée-Adam, Mathieu, Martínez-Bartolomé, Salvador, Balch, William E., Yates, John R.
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society for Biochemistry and Molecular Biology 2015
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4587331/
https://ncbi.nlm.nih.gov/pubmed/25873482
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/mcp.M114.045609
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!