NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease-Reference-Cited by-同舟云学术

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NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease

Published:2010-12-08 Issue:3 Volume:19 Page:270-274
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Hoefs Saskia J G,van Spronsen Francjan J,Lenssen Ellen W H,Nijtmans Leo G,Rodenburg Richard J,Smeitink Jan A M,van den Heuvel Lambert P

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2010204.pdf

Reference34 articles.

1. Brandt U : Energy converting NADH:quinone oxidoreductase (complex I). Annu Rev Biochem 2006; 75: 69–92.

2. Efremov RG, Baradaran R, Sazanov LA : The architecture of respiratory complex I. Nature 2010; 465: 441–445.

3. Smeitink J, van den Heuvel L, DiMauro S : The genetics and pathology of oxidative phosphorylation. Nat Rev Genet 2001; 2: 342–352.

4. Loeffen JL, Smeitink JA, Trijbels JM et al: Isolated complex I deficiency in children: clinical, biochemical and genetic aspects. Hum Mutat 2000; 15: 123–134.

5. Janssen RJ, Nijtmans LG, van den Heuvel LP, Smeitink JA : Mitochondrial complex I: structure, function and pathology. J Inherit Metab Dis 2006; 29: 499–515.

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