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

Autor:	Francesco Papa, Lambert P. van den Heuvel, R. Vergari, Salvatore Scacco, Sergio Papa, Jan A.M. Smeitink, S. M. S. Budde, Anna Maria Sardanelli
Rok vydání:	2001
Předmět:	Male NDUFS4 gene Protein subunit Molecular Sequence Data Biophysics Inborn errors of metabolism Biology Human fibroblast medicine.disease_cause Biochemistry cAMP-dependent phosphoprotein Disturbances in biochemical and functional development of the kidney during childhood Fatal Outcome Structural Biology Complementary DNA Gene duplication Complex I Genetics medicine Neurological syndrome Cyclic AMP Humans NADH NADPH Oxidoreductases Amino Acid Sequence Phosphorylation Erfelijke stofwisselingsziekten Molecular Biology Gene Cells Cultured Mutation Electron Transport Complex I Sequence Homology Amino Acid NDUFS4 Infant Cell Biology Stoornissen in de biochemische en functionele ontwikkeling van de nier op kinderleeftijd Fibroblasts Molecular biology Enzyme Activation Protein Subunits Leigh Disease
Zdroj:	FEBS Letters, 489, 259--62 FEBS Letters, 489, 2-3, pp. 259--62
ISSN:	0014-5793
DOI:	10.1016/S0014-5793(00)02334-6
Popis:	Item does not contain fulltext 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.
Databáze:	OpenAIRE
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