Mutation in the NDUFS4 gene of complex I abolishes cAMP-dependent activation of the complex in a child with fatal neurological syndrome.

Papa, S

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