Subject:
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Inborn 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 |
Organization:
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Tumorimmunology Paediatrics - OUD tm 2017 |
Abstract:
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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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