Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease-Reference-Cited by-同舟云学术

Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease

Published:2024-05-08 Issue:6 Volume:6 Page:1128-1142
ISSN:2522-5812
Container-title:Nature Metabolism
language:en
Short-container-title:Nat Metab

Author:

Sung Andrew Y.^ORCID,Guerra Rachel M.,Steenberge Laura H.,Alston Charlotte L.,Murayama Kei,Okazaki Yasushi^ORCID,Shimura Masaru,Prokisch Holger^ORCID,Ghezzi Daniele^ORCID,Torraco Alessandra^ORCID,Carrozzo Rosalba^ORCID,Rötig Agnès^ORCID,Taylor Robert W.^ORCID,Keck James L.^ORCID,Pagliarini David J.^ORCID

Publisher

Springer Science and Business Media LLC

Link

https://www.nature.com/articles/s42255-024-01039-2.pdf

Reference71 articles.

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2. Kirby, D. M. et al. Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder. Neurology 52, 1255–1264 (1999).

3. Schon, K. R. et al. Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study. Br. Med. J. 375, e066288 (2021).

4. Nouws, J., Nijtmans, L. G. J., Smeitink, J. A. & Vogel, R. O. Assembly factors as a new class of disease genes for mitochondrial complex I deficiency: cause, pathology and treatment options. Brain 135, 12–22 (2012).

5. Swalwell, H. et al. Respiratory chain complex I deficiency caused by mitochondrial DNA mutations. Eur. J. Hum. Genet. 19, 769–775 (2011).

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