OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect

OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect

Abstract OXA1, the mitochondrial member of the YidC/Alb3/Oxa1 membrane protein insertase family, is required for the assembly of oxidative phosphorylation complexes IV and V in yeast. However, depletion of human OXA1 (OXA1L) was previously reported to impair assembly of complexes I and V only. We re...

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Bibliographic Details
Main Authors: Kyle Thompson, Nicole Mai, Monika Oláhová, Filippo Scialó, Luke E Formosa, David A Stroud, Madeleine Garrett, Nichola Z Lax, Fiona M Robertson, Cristina Jou, Andres Nascimento, Carlos Ortez, Cecilia Jimenez‐Mallebrera, Steven A Hardy, Langping He, Garry K Brown, Paula Marttinen, Robert McFarland, Alberto Sanz, Brendan J Battersby, Penelope E Bonnen, Michael T Ryan, Zofia MA Chrzanowska‐Lightowlers, Robert N Lightowlers, Robert W Taylor
Format: Article
Language:English
Published: Wiley 2018-11-01
Series:EMBO Molecular Medicine
Subjects:
encephalopathy
insertase
mitochondria
OXA1L
OXPHOS
Online Access:https://doi.org/10.15252/emmm.201809060

Internet

https://doi.org/10.15252/emmm.201809060

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