Disease Modeling of DYT1 Using Patient Induced Pluripotent Stem Cells
Objective: To create a resource of induced pluripotent stem cells (iPSCs) as models for exploring mechanisms of pathogenesis in DYT1 dystonia. Background: DYT1 an autosomal…Generation and in-depth characterization of induced pluripotent stem cell (iPSC) lines from 10 affected and unaffected carriers of THAP1 mutations
Objective: To establish induced pluripotent stem cells (iPSCs) of affected and unaffected Mutation carriers to investigate disease mechanisms of THAP1 in dystonia. Background: Mutations in…Disease Modeling of Lesch-Nyhan Disease Using Induced Pluripotent Stem Cells
Objective: To create a resource of induced pluripotent stem cells (iPSCs) as models for exploring mechanisms of pathogenesis in Lesch-Nyhan disease (LND). Background: LND is…CRISPR/Cas9-based fluorescent tyrosine hydroxylase-reporter lines
Objective: To generate and characterize TH-GFP and -mCherry reporter iPSC lines. Background: Human induced pluripotent stem cells (iPSCs)-based dopaminergic neuronal (iDA) cultures emerged as a…MicroRNA expression misregulation in iPSC-derived dopaminergic neurons from sporadic and LRRK2-associated Parkinson disease patients
Objective: To investigate whether miRNA expression alterations occur in iPSC-derived DAn from sporadic PD (sPD) as well as monogenic LRRK2-associated PD patients. Background: MicroRNA (miRNA)…Cell and animal models lacking RAB39B show biochemical and behavioural phenotypes that model aspects of Parkinson’s disease
Objective: To determine the pathogenic mechanisms underlying RAB39B-mediated Parkinson’s disease (PD). Background: PD is a neurodegenerative disorder characterized by loss of dopaminergic neurons in the…Transplantation therapy of human iPS cell-derived dopamine neural progenitor cells for Parkinson’s disease
Objective: To examine the efficacy of midbrain dopaminergic progenitors derived from human iPS cells, as the cell source for Parkinson's disease model mouse, by analyzing…Induced pluripotent stem cells based in-vitro modelling of Spinocerebellar Ataxia type -12 (SCA-12).
Objective: To derive neuronal lineages from patient’s peripheral blood mononuclear cells (PBMCs) and exploration of disease biology. Background: Spinocerebellar ataxia type-12 (SCA-12) is a progressive cerebellar…Patient-derived GBA1-PARK2 double-mutant cellular models to study the effect of GBA1 as a modifier of familial Parkinson’s disease
Objective: In this study, we propose to decipher the role of GBA1 as a modifier of familial Parkinson’s disease (PD) using double-mutant patient-derived cellular models…Genetic and pharmacological rescue of DJ-1 loss-of-function caused by a c.192G>C mutation in PARK7
Objective: In this study we investigate the cellular mechanism underlying the Parkinson’s disease (PD)-associated mutation c.192G>C in PARK7 and present a compound treatment that rescues…