Multidimensional phenotyping of human stem cell-derived midbrain dopaminergic neurons from a SNCA triplication carrier for drug screening applications
Objective: We hypothesized that combining multiple Parkinson's disease (PD) relevant cellular phenotypes will increase the accuracy, stability, and usability of human midbrain dopaminergic (mDA) neuronal…Paroxysmal dystonia with phenotypic variability in ECHS1 mutation twin carriers
Objective: To describe 2 monozygotic twins carrying biallelic ECHS1 mutations with different clinical phenotypes Background: ECHS1 encodes for a mitochondrial short chain enoyl-CoA hydratase, a…Systematic mapping of Parkinson’s disease gene interactions
Objective: Here, we aim to identify functional interactions between the Parkinson’s disease-associated genes. Background: Understanding how genes interact to produce a given phenotype is a…α-Synuclein molecular behavior and proteomic profiling distinguish subtypes of Lewy body disorders
Objective: We hypothesized that the clinical heterogeneity found in Lewy body disorders is a consequence of the molecular diversity of αSyn between different patients as…Molecular investigation of apparently healthy heterozygous Parkin mutation carriers
Objective: To investigate whether apparently healthy individuals carrying a heterozygous pathogenic Parkin (PRKN) mutation show molecular phenotypes of mitochondrial dysfunction. Background: Homozygous or compound-heterozygous mutations…VPS35 D620N knockin mice recapitulate cardinal features of Parkinson’s disease
Objective: To establish the pathogenic effects of the PD-causing VPS35 D620N mutation in vivo and address possible underlying mechanisms. Background: D620N mutation in the vacuolar…Developing 31-phosphorus magnetic resonance spectroscopy (31P-MRS) as an imaging biomarker to identify mitochondrial dysfunction in Parkinson’s disease
Objective: To determine if 31P-MRS can identify mitochondrial dysfunction in-vivo and if this correlates with in-vitro measures of mitochondrial function obtained from patient derived fibroblasts…Optic atrophy and parkinsonism in a family associated with OPA1 mutation
Objective: To report a Taiwanese family with a heterozygous missense mutation of OPA1 gene (NM_130836, p.Ser582Arg) presenting with optic atrophy and parkinsonism and establish an…Loss of CHCHD2 and CHCHD10 disrupts mitochondrial cristae phenocopying patient mutations
Objective: Characterization of novel of a novel CHCHD2 (C2) and CHCHD10 (C10) knockout mouse model. Background: Dominant mutations in the mitochondrial paralogs CHCHD2 (C2) and…The interaction of Parkin and TAF15 for the Drosophila in which neuronal defect was induced
Objective: Our study proposes a novel regulator for the protection of TAF15-induced proteinopathy and adds to our understanding of the exact pathogenic mechanism for TAF15-induced…
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