TY  - GEN
AU  - Papa,S
AU  - Scacco,S
AU  - Sardanelli,A M
AU  - Vergari,R
AU  - Papa,F
AU  - Budde,S
AU  - van den Heuvel,L
AU  - Smeitink,J
TI  - Mutation in the NDUFS4 gene of complex I abolishes cAMP-dependent activation of the complex in a child with fatal neurological syndrome
SN  - 0014-5793
PY  - 2001///0315
KW  - Amino Acid Sequence
KW  - Cells, Cultured
KW  - Cyclic AMP
KW  - physiology
KW  - Electron Transport Complex I
KW  - Enzyme Activation
KW  - Fatal Outcome
KW  - Fibroblasts
KW  - cytology
KW  - Humans
KW  - Infant
KW  - Leigh Disease
KW  - enzymology
KW  - Male
KW  - Molecular Sequence Data
KW  - Mutation
KW  - NADH, NADPH Oxidoreductases
KW  - deficiency
KW  - Phosphorylation
KW  - Protein Subunits
KW  - Sequence Homology, Amino Acid
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/s0014-5793(00)02334-6
ER  -