NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy-Reference-Cited by-同舟云学术

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NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy

Published:2018-03 Issue:3 Volume:102 Page:460-467
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Piekutowska-Abramczuk Dorota,Assouline Zahra,Mataković Lavinija,Feichtinger René G.,Koňařiková Eliška,Jurkiewicz Elżbieta,Stawiński Piotr,Gusic Mirjana,Koller Andreas,Pollak Agnieszka,Gasperowicz Piotr,Trubicka Joanna,Ciara Elżbieta,Iwanicka-Pronicka Katarzyna,Rokicki Dariusz,Hanein Sylvain,Wortmann Saskia B.,Sperl Wolfgang,Rötig Agnès,Prokisch Holger,Pronicka Ewa,Płoski Rafał,Barcia Giulia,Mayr Johannes A.

Funder

NSC

CMHI

E-Rare project GENOMIT

PMU-FFF

EC FP7-PEOPLE-ITN

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference24 articles.

1. Energy converting NADH:quinone oxidoreductase (complex I);Brandt;Annu. Rev. Biochem.,2006

2. Mitochondrial complex I;Hirst;Annu. Rev. Biochem.,2013

3. Assembly of mitochondrial complex I and defects in disease;Lazarou;Biochim. Biophys. Acta,2009

4. Structure of mammalian respiratory complex I;Zhu;Nature,2016

5. The architecture of the mammalian respirasome;Gu;Nature,2016

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