期刊
LIFE-BASEL
卷 11, 期 5, 页码 -出版社
MDPI
DOI: 10.3390/life11050455
关键词
mitochondrial disease; Leigh syndrome; NADH dehydrogenase; respiratory chain; oxidative phosphorylation; assembly factor
资金
- Deutsche Forschungsgemeinschaft (DFG) [ZI552/4-2]
NADH:ubiquinone-oxidoreductase (complex I) is the largest membrane protein complex in the respiratory chain, with mutations in the accessory subunit NDUFS4 in the matrix arm associated with neuromuscular and neurodegenerative diseases.
NADH:ubiquinone-oxidoreductase (complex I) is the largest membrane protein complex of the respiratory chain. Complex I couples electron transfer to vectorial proton translocation across the inner mitochondrial membrane. The L shaped structure of complex I is divided into a membrane arm and a matrix arm. Fourteen central subunits are conserved throughout species, while some 30 accessory subunits are typically found in eukaryotes. Complex I dysfunction is associated with mutations in the nuclear and mitochondrial genome, resulting in a broad spectrum of neuromuscular and neurodegenerative diseases. Accessory subunit NDUFS4 in the matrix arm is a hot spot for mutations causing Leigh or Leigh-like syndrome. In this review, we focus on accessory subunits of the matrix arm and discuss recent reports on the function of accessory subunit NDUFS4 and its interplay with NDUFS6, NDUFA12, and assembly factor NDUFAF2 in complex I assembly.
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