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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
Retinal diseases
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:
It is part of: Neurobiology of Disease, 2021, vol. 156, p. 105405
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ISSN: 0969-9961
Appears in Collections:Articles publicats en revistes (Genètica, Microbiologia i Estadística)

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