Genetic Complementation of ATP Synthase Deficiency Due to Dysfunction of TMEM70 Assembly Factor in Rat

Mutations of the TMEM70 gene disrupt the biogenesis of the ATP synthase and represent the most frequent cause of autosomal recessive encephalo-cardio-myopathy with neonatal onset. Patient tissues show isolated defects in the ATP synthase, leading to the impaired mitochondrial synthesis of ATP and in...

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Detalles Bibliográficos
Autores principales: Marković, Aleksandra, Tauchmannová, Kateřina, Šimáková, Miroslava, Mlejnek, Petr, Kaplanová, Vilma, Pecina, Petr, Pecinová, Alena, Papoušek, František, Liška, František, Šilhavý, Jan, Mikešová, Jana, Neckář, Jan, Houštěk, Josef, Pravenec, Michal, Mráček, Tomáš
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8869460/
https://www.ncbi.nlm.nih.gov/pubmed/35203486
http://dx.doi.org/10.3390/biomedicines10020276

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