Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thrive-Reference-Cited by-同舟云学术

Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thrive

Published:2017-03-23 Issue:6 Volume:38 Page:692-703
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Baertling Fabian¹²,Al-Murshedi Fathiya³,Sánchez-Caballero Laura¹,Al-Senaidi Khalfan⁴,Joshi Niranjan P⁴,Venselaar Hanka⁵,van den Brand Mariël AM¹,Nijtmans Leo GJ¹,Rodenburg Richard JT¹

Affiliation:

1. Department of Pediatrics; Radboud Centre for Mitochondrial Medicine; Radboud University Medical Centre; Nijmegen The Netherlands

2. Department of General Pediatrics, Neonatology and Pediatric Cardiology; University Children's Hospital Duesseldorf; Heinrich Heine University; Düsseldorf Germany

3. Genetic and Developmental Medicine Clinic; Department of Genetics; Sultan Qaboos University Hospital; Sultan Qaboos University; Muscat Oman

4. Pediatric Cardiology Unit; Department of Child Health; Sultan Qaboos University Hospital; Sultan Qaboos University; Muscat Oman

5. Centre for Molecular and Biomolecular Informatics; Radboud University; Nijmegen The Netherlands

Funder

European Commission

Deutsche Forschungsgemeinschaft

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.23210/fullpdf

Reference64 articles.

1. Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy;Abdulhag;European Journal of Human Genetics,2015

2. A method and server for predicting damaging missense mutations;Adzhubei;Nature Methods,2010

3. Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency;Antonicka;Human Molecular Genetics,2003

4. Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathy;Baertling;Human Mutation,2015

5. NDUFA4 is a subunit of complex IV of the mammalian electron transport chain;Balsa;Cell Metabolism,2012

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