ATP synthase diseases of mitochondrial genetic origin

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Title: ATP synthase diseases of mitochondrial genetic origin
Authors: Dautant, A
Meier, TK
Hahn, A
Tribouillard-Tanvier, D
Di Rago, J-P
Kucharczyk, R
Item Type: Journal Article
Abstract: Devastating human neuromuscular disorders have been associated to defects in the ATP synthase. This enzyme is found in the inner mitochondrial membrane and catalyzes the last step in oxidative phosphorylation, which provides aerobic eukaryotes with ATP. With the advent of structures of complete ATP synthases, and the availability of genetically approachable systems such as the yeast Saccharomyces cerevisiae, we can begin to understand these molecular machines and their associated defects at the molecular level. In this review, we describe what is known about the clinical syndromes induced by 58 different mutations found in the mitochondrial genes encoding membrane subunits 8 and a of ATP synthase, and evaluate their functional consequences with respect to recently described cryo-EM structures.
Issue Date: 4-Apr-2018
Date of Acceptance: 15-Mar-2018
URI: http://hdl.handle.net/10044/1/58409
DOI: https:/d/x.doi.org/10.3389/fphys.2018.00329
ISSN: 1664-042X
Publisher: Frontiers Media
Journal / Book Title: Frontiers in Physiology
Volume: 9
Copyright Statement: © 2018 Dautant, Meier, Hahn, Tribouillard-Tanvier, di Rago and Kucharczyk. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
Sponsor/Funder: Wellcome Trust
Wellcome Trust
Wellcome Trust
Funder's Grant Number: 110068/Z/15/Z
WT110068/Z/15/Z
WT110068/B/15/Z
Publication Status: Published
Article Number: ARTN 329
Appears in Collections:Faculty of Natural Sciences



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