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…Detecting unsuspected mitochondrial disease: an algorithmic approach
Objective: To present an algorithmic approach to the diagnosis of mitochondrial disease for clinical neurologists Background: Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes (MELAS Syndrome)…Inhibition of mitochondrial complexes induces unique transcriptomic and epigenetic profiles: implications to neurodegeneration induced movement disorders
Objective: To compare the neurotoxicological hallmarks induced by inhibitors of mitochondrial complex I (CI- 1- methyl-4- phenylpyridinium; MPP+), complex II (CII- 3- nitropropionic acid; 3-…Tissue Engineered Nigrostriatal Pathway as an Anatomically-Inspired Test-Bed for Evaluating Axonal Pathophysiology
Objective: We previously developed the first micro-tissue engineered nigrostriatal pathway encased in a tubular hydrogel with 3D structure, multicellular composition, and architecture of long axonal…Challenging mitochondria in idiopathic Parkinson‘s disease fibroblasts
Objective: Evaluate mitochondrial integrity in cultivated fibroblasts of patients with idiopathic Parkinson’s disease (IPD) and healthy controls (HC). Background: Mitochondrial dysfunction (MD) is considered an…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.