Alterations in Proteostasis Mechanisms in Niemann–Pick Type C Disease

Alterations in Proteostasis Mechanisms in Niemann–Pick Type C Disease

Niemann–Pick Type C (NPC) represents an autosomal recessive disorder with an incidence rate of 1 in 150,000 live births, classified within lysosomal storage diseases (LSDs). The abnormal accumulation of unesterified cholesterol characterizes the pathophysiology of NPC. This phenomenon is not unique...

Full description

Bibliographic Details
Main Authors: Iris Valeria Servín Muñoz, Daniel Ortuño-Sahagún, Christian Griñán-Ferré, Mercè Pallàs, Celia González-Castillo
Format: Article
Language:English
Published: MDPI AG 2024-03-01
Series:International Journal of Molecular Sciences
Subjects:
lysosome
lysosomal storage diseases (LSDs)
cholesterol
protein degradation
protein folding
Online Access:https://www.mdpi.com/1422-0067/25/7/3806

Similar Items

Similar Items