Mutation in the NDUFS4 gene of complex I abolishes cAMP‐dependent activation of the complex in a child with fatal neurological syndrome
Open Access
- 31 January 2001
- journal article
- case report
- Published by Wiley in FEBS Letters
- Vol. 489 (2-3) , 259-262
- https://doi.org/10.1016/s0014-5793(00)02334-6
Abstract
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.Keywords
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