CERKL, a retinal dystrophy gene, regulates mitochondrial function and dynamics in the mammalian retina.
Animals
Autophagy
/ physiology
Cells, Cultured
Mice
Mice, Inbred C57BL
Mice, Knockout
Mice, Transgenic
Mitochondria
/ genetics
Phosphotransferases (Alcohol Group Acceptor)
/ deficiency
Retina
/ metabolism
Retinal Dystrophies
/ genetics
Retinal Ganglion Cells
/ metabolism
Retinitis Pigmentosa
/ genetics
CERKL
Mitochondrial dysfunction
Retinal dystrophies
Retinitis pigmentosa
Journal
Neurobiology of disease
ISSN: 1095-953X
Titre abrégé: Neurobiol Dis
Pays: United States
ID NLM: 9500169
Informations de publication
Date de publication:
08 2021
08 2021
Historique:
received:
17
03
2021
revised:
06
05
2021
accepted:
21
05
2021
pubmed:
29
5
2021
medline:
20
1
2022
entrez:
28
5
2021
Statut:
ppublish
Résumé
The retina is a highly active metabolic organ that displays a particular vulnerability to genetic and environmental factors causing stress and homeostatic imbalance. Mitochondria constitute a bioenergetic hub that coordinates stress response and cellular homeostasis, therefore structural and functional regulation of the mitochondrial dynamic network is essential for the mammalian retina. CERKL (ceramide kinase like) is a retinal degeneration gene whose mutations cause Retinitis Pigmentosa in humans, a visual disorder characterized by photoreceptors neurodegeneration and progressive vision loss. CERKL produces multiple isoforms with a dynamic subcellular localization. Here we show that a pool of CERKL isoforms localizes at mitochondria in mouse retinal ganglion cells. The depletion of CERKL levels in Cerkl
Identifiants
pubmed: 34048907
pii: S0969-9961(21)00154-6
doi: 10.1016/j.nbd.2021.105405
pii:
doi:
Substances chimiques
Phosphotransferases (Alcohol Group Acceptor)
EC 2.7.1.-
CerkL protein, mouse
EC 2.7.1.138
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
105405Informations de copyright
Copyright © 2021. Published by Elsevier Inc.