Dissecting the genetic complexity of Parkinson’s disease: a Parkin-GBA study
Objective: In this study, we investigate how the PD risk factor GBA would affect the cellular phenotypes associated with homozygous mutations in Parkin, causing an…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…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…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…
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