Encontrados 2 documentos, a visualizar página 1 de 1
MPV17 Mutations Are Associated With a Quiescent Energetic Metabolic Profile
Jacinto, Sandra; Guerreiro, Patrícia; Oliveira, Rita Machado de; Oliveira, Teresa Cunha; Santos, Maria João; Grazina, Manuela; Rego, A. CristinaMutations 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...
Synphilin-1 enhances α-synuclein aggregation in yeast and contributes to cellul...
Büttne, Sabrina; Delay, Charlotte; Franssens, Vanessa; Bammens, Tine; Ruli, Doris; Zaunschirm, Sandra; Oliveira, Rita Machado de; Outeiro, Tiago FlemingBackground: Parkinson’s disease is characterized by the presence of cytoplasmic inclusions, known as Lewy bodies, containing both aggregated α-synuclein and its interaction partner, synphilin-1. While synphilin-1 is known to accelerate inclusion formation by α-synuclein in mammalian cells, its effect on cytotoxicity remains elusive. Methodology/Principal Findings: We expressed wild-type synphilin-1 or its R621C...