Computational and mitochondrial functional studies of novel compound heterozygous variants in SPATA5 gene support a causal link with epileptogenic encephalopathy

The SPATA5 gene encodes a 892 amino-acids long protein that has a putative mitochondrial targeting sequence and has been proposed to function in maintenance of mitochondrial function and integrity during mouse spermatogenesis. Several studies have associated homozygous or compound heterozygous mutat...

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Detalles Bibliográficos
Autores principales: Raggio, Víctor, Graña, Martín, Winiarski, Erik, Mansilla, Santiago, Simoes, Camila, Rodríguez, Soledad, Brandes, Mariana, Tapié, Alejandra, Rodríguez, Laura, Cibils, Lucía, Alonso, Martina, Martínez, Jennyfer, Fernández-Calero, Tamara, Domínguez, Fernanda, Mezquida, Melania Rosas, Castro, Laura, Cerisola, Alfredo, Naya, Hugo, Cassina, Adriana, Quijano, Celia, Spangenberg, Lucía
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9972848/
https://www.ncbi.nlm.nih.gov/pubmed/36849973
http://dx.doi.org/10.1186/s40246-023-00463-x

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