1.
Mitochondrion
; 2(1-2): 109-15, 2002 Nov.
Artículo
en Inglés
| MEDLINE
| ID: mdl-16120313
RESUMEN
Complex I is the first and largest enzyme of the oxidative phosphorylation system. It consists of at least 43 subunits. Recent studies have shown that the NDUFS4 subunit of complex I contributes to the activation of the complex through cAMP dependent phosphorylation of a conserved site (RVS) located at the C-terminal region of this protein. This report focuses on the NDUFS4 subunit. Summarized is the current knowledge of this subunit, from gene structure to function and pathology.
2.
J Inherit Metab Dis
; 26(8): 813-5, 2003.
Artículo
en Inglés
| MEDLINE
| ID: mdl-14765537
RESUMEN
A comparison of the clinical presentation, disease course and results of laboratory and imaging studies of all patients so far published with a NDUFS4 mutation are presented. This reveals marked clinical heterogeneity, even in patients with the same genotype.