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

First Author  Papa S Year  2001
Journal  FEBS Lett Volume  489
Issue  2-3 Pages  259-62
PubMed ID  11165261 Mgi Jnum  J:67810
Mgi Id  MGI:1931423 Doi  10.1016/s0014-5793(00)02334-6
Citation  Papa S, et al. (2001) Mutation in the NDUFS4 gene of complex I abolishes cAMP-dependent activation of the complex in a child with fatal neurological syndrome. FEBS Lett 489(2-3):259-62
abstractText  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.
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