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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Үндсэн зохиолч:	Raggio, Víctor (author)
Бусад зохиолчид:	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)
Формат:	article
Хэл сонгох:	англи
Хэвлэсэн:	2023
Нөхцлүүд:	ATPasas ASOCIADAS CON ACTIVIDADES CELULARES DIVERSAS METABOLISMO ANIMALES BIOPSIA ENCEFALOPATÍAS RATONES MASCULINO MICROCEFALIA MITOCONDRIAS CONVULSIONES GENÉTICA
Онлайн хандалт:	https://hdl.handle.net/20.500.12008/53861
Шошгууд:	Шошго нэмэх Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!