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. |