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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Hlavní autor:	Raggio, Víctor (author)
Další autoři:	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)
Médium:	article
Jazyk:	angličtina
Vydáno:	2023
Témata:	ATPasas ASOCIADAS CON ACTIVIDADES CELULARES DIVERSAS METABOLISMO ANIMALES BIOPSIA ENCEFALOPATÍAS RATONES MASCULINO MICROCEFALIA MITOCONDRIAS CONVULSIONES GENÉTICA
On-line přístup:	https://hdl.handle.net/20.500.12008/53861
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