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

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Title:	Mutation in the NDUFS4 gene of complex I abolishes cAMP-dependent activation of the complex in a child with fatal neurological syndrome.
Author(s):	Papa, S.; Scacco, S.; Sardanelli, A.M.; Vergari, R.; Papa, F.; Budde, M.S. ; Heuvel, L.P.W.J. van den ; Smeitink, J.A.M.
Publication year:	2001
Source:	Febs Letters, vol. 489, iss. 2-3, (2001), pp. 259--62
ISSN:	0014-5793
DOI:	https://doi.org/10.1016/S0014-5793(00)02334-6
Publication type:	Article / Letter to editor
Please use this identifier to cite or link to this item : http://hdl.handle.net/2066/188649
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Subject:	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:	Tumorimmunology Paediatrics
Journal title:	Febs Letters
Volume:	vol. 489
Issue:	iss. 2-3
Page start:	p. 259-
Page end:	p. 62
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.