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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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Main Author: Raggio, Víctor (author)
Other Authors: 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
Language:English
Published: 2023
Subjects:
ATPasas ASOCIADAS CON ACTIVIDADES CELULARES DIVERSAS
METABOLISMO
ANIMALES
BIOPSIA
ENCEFALOPATÍAS
RATONES
MASCULINO
MICROCEFALIA
MITOCONDRIAS
CONVULSIONES
GENÉTICA
Online Access:https://hdl.handle.net/20.500.12008/53861
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