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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Dades bibliogràfiques

Autor principal:	Raggio, Víctor (author)
Altres autors:	Graña, Martín (author), Winiarski, Erik (author), Mansilla, Santiago (author), Simoes, Camila (author), Rodríguez, Soledad (author), Brandes, Mariana (author), Tapié, Alejandra (author), Rodríguez, Laura (author), Cibils, Lucía (author), Alonso, Martina (author), Martínez, Jennyfer (author), Fernández-Calero, Tamara (author), Domínguez, Fernanda (author), Rosas Mezquida, Melania (author), Castro, Laura (author), Cerisola, Alfredo (author), Naya, Hugo (author), Cassina, Adriana (author), Quijano, Celia (author), Spangenberg, Lucía (author)
Format:	article
Idioma:	anglès
Publicat:	2023
Matèries:	ATPasas ASOCIADAS CON ACTIVIDADES CELULARES DIVERSAS METABOLISMO ANIMALES BIOPSIA ENCEFALOPATÍAS RATONES MASCULINO MICROCEFALIA MITOCONDRIAS CONVULSIONES GENÉTICA
Accés en línia:	https://hdl.handle.net/20.500.12008/53861
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