Mutation in the NDUFS4 gene of complex I abolishes cAMP-dependent activation of the complex in a child with fatal neurological syndrome. [electronic resource]
- FEBS letters Feb 2001
- 259-62 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
0014-5793
10.1016/s0014-5793(00)02334-6 doi
Amino Acid Sequence Cells, Cultured Cyclic AMP--physiology Electron Transport Complex I Enzyme Activation Fatal Outcome Fibroblasts--cytology Humans Infant Leigh Disease--enzymology Male Molecular Sequence Data Mutation NADH, NADPH Oxidoreductases--deficiency Phosphorylation Protein Subunits Sequence Homology, Amino Acid