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Tay Sachs disease variant B1: iPSC and NGS as the basis for a cellular model

Ribeiro, Diogo; Duarte, Ana J.; Moreira, Luciana; Santos, Renato; Encarnaçao, Marisa; Silva, Lisbeth; Coutinho, M. Francisca; Alves, Sandra

Tay Sachs disease variant B1 (TSD B1; OMIM 272800) is a neurodegenerative lysosomal storage disease (LSD) which, although rare, is the most frequent form of TSD in Portugal. The mutation p.R178H (c.533G>A; rs28941770), associated with TSD B1, leads to a mutant HexA protein with altered kinetics and reduced residual activity. The availability of disease-relevant cell types derived from induced pluripotent stem c...

Date: 2022   |   Origin: Repositório Científico do Instituto Nacional de Saúde
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