Mitochondrial Complex I (MCI) deficiency has been abundantly observed in Parkinson’s disease (PD); however, it remained elusive if this was a consequence of the disease defects or rather disease-causing. Recent work in Nature by Gonzalez-Rodriguez and colleagues discovered MCI dysfunction to be s...
P182 – 1614 Mitochondrial Complex I deficiency due to a mutation in the NDUFV1 gene: a case reportNiemann Pick disease type C (NPC) is an autosomal recessive neurometabolic disorder characterized biochemically by a disturbed intracelluler processing of exogenous cholesterol with lysosomal accumulation...
Mitochondrial Complex I Deficiency Enhances Skeletal Myogenesis but Impairs Insulin Signaling through SIRT1 Inactivation* Author links open overlay panelJin Hong ‡ 1, Bong-Woo Kim § 1, Hyo-Jung Choo ‡, Jung-Jin Park ‡, Jae-Sung Yi ‡, Dong-Min Yu ‡, Hyun Lee ‡, Gye-Soon ...
4d). These results indicate that NADPH deficiency triggered by CI-dependent inhibition of mitochondrial one-carbon metabolism causes inflammatory gene signature. Fig. 5: Complex I inhibition, in vitro and in vivo, is associated with an inflammatory gene response caused by increased oxidative stress. ...
DJ-1 (also known as PARK7), a protein highly associated with male sterility, binds to the mitochondrial complex ... Y Sun,X Sun,L Zhao,... - 《Reproduction》 被引量: 0发表: 2020年 NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency complex I ...
Respiratory chain complex I deficiency caused by mitochondrial DNA mutations 喜欢 0 阅读量: 18 作者: Swalwell,H.,Kirby,D. M.,Blakely,E. L.,Mitchell,A.,Salemi,R.,Sugiana,C.,Compton,A. G.,Tucker,E. J.,B. X.,Lamont,P. J. 展开 ...
Complex I deficiency is a novel cause of secretory diarrhea and may act via disrupting the supply of adenosine triphosphate (ATP) needed for the maintenance of ion gradients across membranes. 展开 关键词: Intractable secretory diarrhea Mitochondrial respiratory chain disorder Complex I deficiency ...
The product of the NADH-ubiquinone oxidoreductase 1 alpha subcomplex 5 (NDUFA5) gene is included in the mitochondrial electron transport chain.Method: We... T Marui,I Funatogawa,S Koishi,... - 《Acta Psychiatrica Scandinavica》 被引量: 35发表: 2011年 Investigating complex I deficiency in Pu...
In an attempt to elucidate the molecular bases of complex I deficiency, we studied the six most-conserved complex I nuclear genes (NDUFV1, NDUFS8, NDUFS7, NDUFS1, NDUFA8, and NDUFB6) in a series of 36 patients with isolated complex I deficiency by denaturing high-performance liquid ...
Interestingly, inhibition of mitochondrial complex-1 by rotenone markedly reversed the downregulation of NKCC2, p-NKCC2, and ENaCα. In contrast, other sodium transporters were not affected by rotenone. To study the potential mechanisms involved in mediating the effects of rotenone on sodium ...