[HTML][HTML] 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 …
S Scacco, V Petruzzella, S Budde, R Vergari… - Journal of Biological …, 2003 - ASBMB
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-like syndrome. The mutations consisted, respectively, of a AAGTC
duplication at position 466–470 of the coding sequence, a single base deletion at position
289/290, and a G44A nonsense mutation in the first exon of the gene. All three mutations …
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-like syndrome. The mutations consisted, respectively, of a AAGTC
duplication at position 466–470 of the coding sequence, a single base deletion at position
289/290, and a G44A nonsense mutation in the first exon of the gene. All three mutations …