OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect.

doi:10.15252/emmm.201809060

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OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect.

EMBO molecular medicine - 1 Nov 2018

Thompson Kyle, Mai Nicole, Oláhová Monika, Scialó Filippo, Formosa Luke E, Stroud David A, Garrett Madeleine, Lax Nichola Z, Robertson Fiona M, Jou Cristina, Nascimento Andres, Ortez Carlos, Jimenez-Mallebrera Cecilia, Hardy Steven A, He Langping, Brown Garry K, Marttinen Paula, McFarland Robert, Sanz Alberto, Battersby Brendan J, Bonnen Penelope E, Ryan Michael T, Chrzanowska-Lightowlers Zofia Ma, Lightowlers Robert N, Taylor Robert W

Abstract excerpt

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 report a patient presenting with severe encephalopathy, hypotonia and developmental delay who died at 5 years showing complex...

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PMID: 30201738
DOI: 10.15252/emmm.201809060
PMCID: PMC6220311

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