Cystathionine beta-synthase and H2S levels are increased in cellular models of Trisomy 21
Rafaela Agostinho, Vera Marques, Sofia Calado, José Bragança, Hipólito Nzwalo, Mónica Bota, Raquel Melo Medeiros, Carla Mendonça, Sónia Simão, Inês Araújo · FENS Forum 2024
The gene for cystathionine beta-synthase (CBS), the enzyme producing hydrogen sulfide (H2S), located on chromosome 21, is present in extra copy in Down syndrome (DS). Dysregulation of H2S signalling has been linked to DS, but the precise underlying mechanisms are yet to be fully identified. Therefore, this study aims to establish and characterize induced pluripotent stem cell (iPSC) lines reprogrammed from peripheral blood mononuclear cells (PBMC) collected from a blood sample of a paediatric DS patient (T21) and an age-matched apparently healthy donor (Eup), and also to derive iPSC into neura
ePoster · Neuroscience