Journal
JOURNAL OF BIOENERGETICS AND BIOMEMBRANES
Volume 46, Issue 4, Pages 323-328Publisher
SPRINGER/PLENUM PUBLISHERS
DOI: 10.1007/s10863-014-9564-x
Keywords
Complex I; Assembly; Assembly factors; Mitochondrial disorders
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Funding
- National Institute of Health [R21 NS072777, R01 GM109434]
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Defects in Complex I assembly is one of the emerging underlying causes of severe mitochondrial disorders. The assembly of Complex I has been difficult to understand due to its large size, dual genetic control and the number of proteins involved. Mutations in Complex I subunits as well as assembly factors have been reported to hinder its assembly and give rise to a range of mitochondria disorders. In this review, we summarize the recent progress made in understanding the Complex I assembly pathway. In particularly, we focus on the known as well as novel assembly factors and their role in assembly of Complex I and human disease.
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