2 documents found, page 1 of 1
Loss of REP-1 in retinal pigment epithelial cells leads to impaired phagosome p...
Coelho, Rita; Antas, Pedro; Fonseca, Ana Fragoso; Oliveira, Daniela; Carvalho, Cláudia; Pedro, Margarida L.; J. Hall, Michael; AS, FalcãoChoroideremia (CHM) is a rare form of retinal degeneration caused by mutations in the ubiquitously expressed CHM gene, encoding for Rab escort-protein-1 (REP-1). REP-1 is required for the prenylation of Rab GTPase proteins, regulators of intracellular membrane traffic, yet what specific cellular pathways are affected in CHM and how this contributes to disease progression remain unclear. Using both ARPE-19 and i...
The mechanism of sirtuin 2-mediated exacerbation of alpha-synuclein toxicity in...
de Oliveira, Rita Machado; Vicente Miranda, Hugo; Francelle, Laetitia; Pinho, Raquel; Szegö, Éva M.; Martinho, Renato; Munari, FrancescaSirtuin genes have been associated with aging and are known to affect multiple cellular pathways. Sirtuin 2 was previously shown to modulate proteotoxicity associated with age-associated neurodegenerative disorders such as Alzheimer and Parkinson disease (PD). However, the precise molecular mechanisms involved remain unclear. Here, we provide mechanistic insight into the interplay between sirtuin 2 and α-synucl...