A Murine Niemann-Pick C1 I1061T Knock-In Model Recapitulates the Pathological Features of the Most Prevalent Human Disease Allele

Niemann-Pick Type C1 (NPC1) disease is a rare neurovisceral, cholesterol–sphingolipid lysosomal storage disorder characterized by ataxia, motor impairment, progressive intellectual decline, and dementia. The most prevalent mutation, NPC1(I1061T), encodes a misfolded protein with a reduced half-life...

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Detalhes bibliográficos
Publicado no:J Neurosci
Main Authors: Praggastis, Maria, Tortelli, Brett, Zhang, Jessie, Fujiwara, Hideji, Sidhu, Rohini, Chacko, Anita, Chen, Zhouji, Chung, Chan, Lieberman, Andrew P., Sikora, Jakub, Davidson, Cristin, Walkley, Steven U., Pipalia, Nina H., Maxfield, Frederick R., Schaffer, Jean E., Ory, Daniel S.
Formato: Artigo
Idioma:Inglês
Publicado em: Society for Neuroscience 2015
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4444535/
https://ncbi.nlm.nih.gov/pubmed/26019327
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1523/JNEUROSCI.4173-14.2015
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