A de novo missense mutation in PPP2R5D alters dopamine pathways and morphology of iPSC-derived midbrain neurons
Sign Up to like & getrecommendations! Published in 2024 at "Stem Cells"
DOI: 10.1093/stmcls/sxae068
Abstract: Abstract Induced pluripotent stem cell (iPSC) models of neurodevelopmental disorders (NDDs) have promoted an understanding of commonalities and differences within or across patient populations by revealing the underlying molecular and cellular mechanisms contributing to disease… read more here.
Keywords: ppp2r5d; derived midbrain; stem; pathology ... See more keywords
Generation and characterization of NGLY1 patient-derived midbrain organoids
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Cell and Developmental Biology"
DOI: 10.3389/fcell.2023.1039182
Abstract: NGLY1 deficiency is an ultra-rare, autosomal recessive genetic disease caused by mutations in the NGLY1 gene encoding N-glycanase one that removes N-linked glycan. Patients with pathogenic mutations in NGLY1 have complex clinical symptoms including global… read more here.
Keywords: derived midbrain; disease; patient; patient derived ... See more keywords
Patient-Derived Midbrain Organoids to Explore the Molecular Basis of Parkinson's Disease
Sign Up to like & getrecommendations! Published in 2020 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2020.01005
Abstract: Induced pluripotent stem cell-derived organoids offer an unprecedented access to complex human tissues that recapitulate features of architecture, composition and function of in vivo organs. In the context of Parkinson's Disease (PD), human midbrain organoids… read more here.
Keywords: disease; midbrain organoids; derived midbrain; organoids explore ... See more keywords