Article
The first nuclear-encoded complex I mutation in a patient with Leigh syndrome.
American journal of human genetics - 1 Dec 1998
Loeffen J, Smeitink J, Triepels R, Smeets R, Schuelke M, Sengers R, Trijbels F, Hamel B, Mullaart R, van den Heuvel L
Abstract excerpt
Nicotinamide adenine dinucleotide (NADH):ubiquinone oxidoreductase (complex I) is the largest multiprotein enzyme complex of the respiratory chain. The nuclear-encoded NDUFS8 (TYKY) subunit of complex I is highly conserved among eukaryotes and prokaryotes and contains two 4Fe4S ferredoxin consens...
Topics
- Amino Acid Sequence
- Base Sequence
- Cell Nucleus
- Cells, Cultured
- Consensus Sequence
- DNA Mutational Analysis
- Electron Transport Complex I
- Female
- Ferredoxins
- Fibroblasts
- Gene Expression
- Heterozygote
- Humans
- Infant, Newborn
- Leigh Disease