[HTML][HTML] Mutation in the NDUFS4 gene of complex I abolishes cAMP-dependent activation of the complex in a child with fatal neurological syndrome
S Papa, S Scacco, AM Sardanelli, R Vergari, F Papa… - FEBS letters, 2001 - Elsevier
S Papa, S Scacco, AM Sardanelli, R Vergari, F Papa, S Budde, L van den Heuvel, J Smeitink
FEBS letters, 2001•ElsevierEvidence is presented showing that in a patient with fatal neurological syndrome, the
homozygous 5 bp duplication in the cDNA of the NDUFS4 18 kDa subunit of complex I
abolishes cAMP-dependent phosphorylation of this protein and activation of the complex.
These findings show for the first time that human complex I is regulated via phosphorylation
of the subunit encoded by the NDUFS4 gene.
homozygous 5 bp duplication in the cDNA of the NDUFS4 18 kDa subunit of complex I
abolishes cAMP-dependent phosphorylation of this protein and activation of the complex.
These findings show for the first time that human complex I is regulated via phosphorylation
of the subunit encoded by the NDUFS4 gene.
Evidence is presented showing that in a patient with fatal neurological syndrome, the homozygous 5 bp duplication in the cDNA of the NDUFS4 18 kDa subunit of complex I abolishes cAMP-dependent phosphorylation of this protein and activation of the complex. These findings show for the first time that human complex I is regulated via phosphorylation of the subunit encoded by the NDUFS4 gene.
Elsevier