Cardiff University | Prifysgol Caerdydd ORCA
Online Research @ Cardiff 
WelshClear Cookie - decide language by browser settings

Lysosomal Ca2+ homeostasis: Role in pathogenesis of lysosomal storage diseases

Lloyd-Evans, Emyr ORCID: https://orcid.org/0000-0002-3626-1611 and Platt, Frances M. 2011. Lysosomal Ca2+ homeostasis: Role in pathogenesis of lysosomal storage diseases. Cell Calcium 50 (2) , pp. 200-205. 10.1016/j.ceca.2011.03.010

Full text not available from this repository.

Abstract

Disrupted cellular Ca2+ signaling is believed to play a role in a number of human diseases including lysosomal storage diseases (LSD). LSDs are a group of ∼50 diseases caused predominantly by mutations in lysosomal proteins that result in accumulation of macromolecules within the lysosome. We recently reported that Niemann-Pick type C (NPC) is the first human disease to be associated with defective lysosomal Ca2+ uptake and defective NAADP-mediated lysosomal Ca2+ release. These defects in NPC cells leads to the disruption in endocytosis and subsequent lipid storage that is a feature of this disease. In contrast, Chediak–Higashi Syndrome cells have been reported to have enhanced lysosomal Ca2+ uptake whilst the TRPML1 protein defective in mucolipidosis type IV is believed to function as a Ca2+ channel. In this review we provide a summary of the current knowledge on the role of lysosomal Ca2+ signaling in the pathogenesis of this group of diseases.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Biosciences
Subjects: Q Science > Q Science (General)
Q Science > QH Natural history > QH301 Biology
Uncontrolled Keywords: Lysosomal calcium; Lysosomal storage disease; Niemann-Pick; NPC1; Mucolipidosis type IV; MLIV; NAADP
Additional Information: Article history: Available online 2 July 2011
Publisher: Elsevier
ISSN: 0143-4160
Last Modified: 19 Oct 2022 09:06
URI: https://orca.cardiff.ac.uk/id/eprint/20030

Citation Data

Cited 104 times in Scopus. View in Scopus. Powered By Scopus® Data

Actions (repository staff only)

Edit Item Edit Item