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

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

Mutations of the <i>TMEM70</i> 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 synt...

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Bibliographic Details
Main Authors: Aleksandra Marković, Kateřina Tauchmannová, Miroslava Šimáková, Petr Mlejnek, Vilma Kaplanová, Petr Pecina, Alena Pecinová, František Papoušek, František Liška, Jan Šilhavý, Jana Mikešová, Jan Neckář, Josef Houštěk, Michal Pravenec, Tomáš Mráček
Format: Article
Language:English
Published: MDPI AG 2022-01-01
Series:Biomedicines
Subjects:
mitochondria disease
ATP synthase deficiency
TMEM70 factor
transgenic rescue
gene therapy
Online Access:https://www.mdpi.com/2227-9059/10/2/276

Internet

https://www.mdpi.com/2227-9059/10/2/276

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