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MPV17 Mutations Are Associated With a Quiescent Energetic Metabolic Profile

Jacinto, S; Guerreiro, P; de Oliveira, RM; Cunha-Oliveira, T; Santos, MJ; Grazina, M; Rego, AC; Outeiro, TF

Mutations in the MPV17 gene are associated with hepatocerebral form of mitochondrial depletion syndrome. The mechanisms through which MPV17 mutations cause respiratory chain dysfunction and mtDNA depletion is still unclear. The MPV17 gene encodes an inner membrane mitochondrial protein that was recently described to function as a non-selective channel. Although its exact function is unknown, it is thought to be...


MPV17 Mutations Are Associated With a Quiescent Energetic Metabolic Profile

Jacinto, S; Guerreiro, P; Machado de Oliveira, R; Cunha-Oliveira, T; Santos, MJ; Grazina, M; Rego, AC; Outeiro, TF

Mutations in the MPV17 gene are associated with hepatocerebral form of mitochondrial depletion syndrome. The mechanisms through which MPV17 mutations cause respiratory chain dysfunction and mtDNA depletion is still unclear. The MPV17 gene encodes an inner membrane mitochondrial protein that was recently described to function as a non-selective channel. Although its exact function is unknown, it is thought to be...


The NAD+-dependent deacetylase SIRT2 attenuates oxidative stress and mitochondr...

Lemos, V; de Oliveira, RM; Naia, L; Szegö, É; Ramos, E; Pinho, S; Magro, F; Cavadas, C; Rego, AC; Outeiro, TF; Gomes, P

Insulin resistance is a major predictor of the development of metabolic disorders. Sirtuins (SIRTs) have emerged as potential targets that can be manipulated to counteract age-related diseases, including type 2 diabetes. SIRT2 has been recently shown to exert important metabolic effects, but whether SIRT2 regulates insulin sensitivity in hepatocytes is currently unknown. The aim of this study is to investigate ...


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