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Title: | CERKL, a retinal dystrophy gene, regulates mitochondrial function and dynamics in the mammalian retina |
Author: | Mirra, Serena García-Arroyo, Rocío Domènech, Elena B. Gavaldà i Navarro, Aleix Herrera Úbeda, Carlos Oliva, Clara Garcia Fernández, Jordi Artuch Iriberri, Rafael Villarroya i Gombau, Francesc Marfany i Nadal, Gemma |
Keywords: | Malalties de la retina Mitocondris Mamífers Retinal diseases Mitochondria Mammals |
Issue Date: | 25-May-2021 |
Publisher: | Elsevier |
Abstract: | 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 CerklKD/KO (knockdown/knockout) mouse retinas cause increase of autophagy, mitochondrial fragmentation, alteration of mitochondrial distribution, and dysfunction of mitochondrial-dependent bioenergetics and metabolism. Our results support CERKL as a regulator of autophagy and mitochondrial biology in the mammalian retina. |
Note: | Versió postprint del document publicat a: https://doi.org/10.1016/j.nbd.2021.105405 |
It is part of: | Neurobiology of Disease, 2021, vol. 156, p. 105405 |
URI: | http://hdl.handle.net/2445/178699 |
Related resource: | https://doi.org/10.1016/j.nbd.2021.105405 |
ISSN: | 0969-9961 |
Appears in Collections: | Articles publicats en revistes (Genètica, Microbiologia i Estadística) |
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