Mutation in the NDUFS4 gene of complex I abolishes cAMP-dependent activation of the complex in a child with fatal neurological syndrome.
SourceFEBS Letters, 489, 2-3, (2001), pp. 259--62
Article / Letter to editor
Display more detailsDisplay less details
Paediatrics - OUD tm 2017
SubjectInborn errors of metabolism; Disturbances in biochemical and functional development of the kidney during childhood.; Erfelijke stofwisselingsziekten; Stoornissen in de biochemische en functionele ontwikkeling van de nier op kinderleeftijd
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.
Upload full text
Use your RU credentials (u/z-number and password) to log in with SURFconext to upload a file for processing by the repository team.