Article
Pathological mutations of the human NDUFS4 gene of the 18-kDa (AQDQ) subunit of complex I affect the expression of the protein and the assembly and function of the complex.
The Journal of biological chemistry - 7 Nov 2003
Scacco Salvatore, Petruzzella Vittoria, Budde Sandy, Vergari Rosaria, Tamborra Rosanna, Panelli Damiano, van den Heuvel Lambert P, Smeitink Jan A, Papa Sergio
Abstract excerpt
Presented is a study of the impact on the structure and function of human complex I of three different homozygous mutations in the NDUFS4 gene coding for the 18-kDa subunit of respiratory complex I, inherited by autosomal recessive mode in three children affected by a fatal neurological Leigh-lik...
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