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

被引：80

作者：

Papa, S

Scacco, S

Sardanelli, AM

Vergari, R

Papa, F

Budde, S

van den Heuvel, L

Smeitink, J

机构：

[1] Univ Bari, Dept Med Biochem & Biol, I-70125 Bari, Italy

[2] Univ Nijmegen, Med Ctr, Dept Pediat, Nijmegen Ctr Mitochondrial Disorders, Nijmegen, Netherlands

来源：

FEBS LETTERS | 2001年 / 489卷 / 2-3期

关键词：

NDUFS4; gene; complex I; human fibroblast; cAMP-dependent phosphoprotein;

D O I：

10.1016/S0014-5793(00)02334-6

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Evidence is presented showing that in a patient with fatal neurological syndrome, the homozygous 5 by 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. (C) 2001 Federation of European Biochemical Societies. Published by Elsevier Science B.V. All rights reserved.

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页码：259 / 262

页数：4

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