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…Mitochondrial morphometrics in idiopathic Parkinson‘s disease fibroblasts
Objective: To identify mitochondrial morphometric phenotypes in fibroblasts derived from patients with idiopathic Parkinson’s disease (IPD). Background: Mitochondrial dysfunction (MD) has been proposed as cellular…Metabolomic Profiling of Activated Microglial Cells
Objective: To investigate metabolomic changes in SIM-A9 microglia in vitro following exposure to neuroinflammatory insult using high resolution mass spectrometry. Background: Microglial cells play an…Acid sphingomyelinase deficiency rescues mitochondrial dysfunction in gba-/- zebrafish (Danio rerio)
Objective: To determine the interaction between glucocerebrosidase deficiency and acid sphingomyelinase deficiency in a tractable vertebrate model system of Parkinson's disease. Background: Heterozygous glucocerebrosidase (GBA)…Ubiquitin carboxyl-terminal hydrolase 1 (UCHL1) -mediated ubiquitination attributed to localization of Mortalin to mitochondria
Objective: The pathogenic mechanism of UCHL1 in PD remains unclear. In this study, we aimed to investigate the role of UCHL1 in the pathogenesis of…Molecular Genetics and Functional Studies of LRRK2 Gene Variations in Parkinson’s Disease
Objective: To evaluate the function role of ROC domain in the brains of LRRK2 transgenic mice model and normal control mice. Background: Mutations in leucine-rich…Impaired stress-induced mitophagy in parkinsonian LRRK2(R1441G) knockin mutant mice
Objective: 1. Morphological changes and accumulation of ubiquitinated mitochondria in the striatum of aged leucine-rich-repeat kinase 2 (LRRK2)R1441G knockin mutant mice (Liu et al., 2014,…