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Causative links between ER stress and oxidative damage in a yeast model of huma...
Nogueira, V; Chang, CK; Lan, CY; Pereira, C; Costa, V; Teixeira, VSeipin is encoded by the gene Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2) and FLD1/SEI1 in yeast. The gain-of-function N88S mutation in the BSCL2 gene was identified in a cohort of autosomal dominant motor neuron diseases (MNDs) collectively known as seipinopathies. Previous work has shown that this mutation disrupts N-glycosylation, leading to the formation of inclusion bodies (IBs) and contribut...
Date: 2022
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Origin: Repositório Aberto da Universidade do Porto