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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:J Neurosci
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: Society for Neuroscience 2015
Matèries:
Articles
Accés en línia: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
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars