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OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect

Autor: 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

Publikováno v: EMBO Molecular Medicine, Vol 10, Iss 11, Pp n/a-n/a (2018)
EMBO Molecular Medicine
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::33ace2b8d93fc82355cffc4d0f974a61
http://hdl.handle.net/10138/299102

A national perspective on prenatal testing for mitochondrial disease

Autor: Nesbitt, Victoria, Alston, Charlotte L, Blakely, Emma L, Fratter, Carl, Feeney, Catherine L, Poulton, Joanna, Brown, Garry K, Turnbull, Doug M, Taylor, Robert W, McFarland, Robert

Publikováno v: European Journal of Human Genetics

Mitochondrial diseases affect >1 in 7500 live births and may be due to mutations in either mitochondrial DNA (mtDNA) or nuclear DNA (nDNA). Genetic counselling for families with mitochondrial diseases, especially those due to mtDNA mutations, provide

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::e6ce8ef920a4d0f7154473a2230c107b
http://europepmc.org/articles/PMC4200441

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Thiamine-Responsive and Non-responsive Patients with PDHC-E1 Deficiency: A Retrospective Assessment.

Autor: van Dongen, Sanne, Brown, Ruth M., Brown, Garry K., Thorburn, David R., Boneh, Avihu

Publikováno v: JIMD Reports; 2015, p13-27, 15p