Article
A murine Niemann-Pick C1 I1061T knock-in model recapitulates the pathological features of the most prevalent human disease allele.
The Journal of neuroscience : the official journal of the Society for Neuroscience - 27 May 2015
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
Abstract excerpt
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 caused by ER-associated degradation. Therapies directed at stabilization of the mutant NPC1 protein reduce...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.