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…The UP study – Ursodeoxycholic acid (UDCA) as neuroprotective treatment for Parkinson’s disease
Objective: To determine the safety and tolerability of ursodeoxycholic acid (UDCA) in Parkinson’s disease (PD) and explore its neuroprotective potential. Background: We previously undertook the…A C12orf65 mutation-related autosomal recessive hereditary spastic paraplegia is associated with autophagy induction
Objective: Spastic paraplegia type 55 (SPG55) is an autosomal recessive complicated HSP caused by homozygous mutation in the C12orf65 gene (613541) on chromosome 12q24. The…Early onset parkinsonism and optic atrophy due to SLC25A46 mutations
Objective: To define the genetic background of a case affected by parkinsonism with optic atrophy. Background: Mutations in SLC25A46 have been recently described as causative…Digenic inheritance of WARS2 and CHRNA6 mutations in infantile parkinsonism
Objective: To provide evidence of digenic inheritance in infantile parkinsonism. Background: Oligogenic inheritance has been demonstrated in PD[1],where patients with a primary genetic cause can…
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