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AGC1 Deficiency: Pathology and Molecular and Cellular Mechanisms of the Disease

AGC1/Aralar/Slc25a12 is the mitochondrial carrier of aspartate-glutamate, the regulatory component of the NADH malate-aspartate shuttle (MAS) that transfers cytosolic redox power to neuronal mitochondria. The deficiency in AGC1/Aralar leads to the human rare disease named “early infantile epileptic...

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Detalles Bibliográficos
Autores principales: Pardo, Beatriz, Herrada-Soler, Eduardo, Satrústegui, Jorgina, Contreras, Laura, del Arco, Araceli
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8745132/
https://www.ncbi.nlm.nih.gov/pubmed/35008954
http://dx.doi.org/10.3390/ijms23010528