Alpha-Synuclein and Mitochondria Quality Control in Parkinson’s Disease: A Literature Review
Objective: To provide an overview of the current knowledge on alpha-synuclein (αS) interactions with mitochondrial quality control (MQC) pathways in Parkinson’s disease (PD). Background: The…Utility of Whole Exome Sequencing in movement disorders potentially related to Mitochondrial cytopathies
Objective: To describe the clinic-genetic profile of clinically suspected mitochondrial cytopathies with movement disorders (MDs). Background: Literature on the clinico-genetic spectrum of movement disorders related…A novel, population-specific PINK1 p.F385S loss of function mutation in an Indian family with Parkinson’s disease
Objective: To understand the molecular function of a novel missense PINK1 variant identified in an Indian family with Parkinson’s disease (PD). Background: The molecular understanding…Patterns of Parkinson disease mitochondrial brain function indexed by 31P magnetic resonance spectroscopy
Objective: To examine whether individuals with PD show greater temporal than frontal high energy phosphate metabolism (31P MRS ATP) that is similar or different from…Exploring mitochondrial mechanisms defining Parkinson’s disease penetrance in LRRK2 G2019S neuronal cultures
Objective: We explored mitochondria as integrators of genetics and environment in LRRK2 G2019S neuronal models. Specifically, we aimed to unravel mitochondrial mechanisms that define the…Phosphorylated α-synuclein at serine residue 129 decreased in Parkinson’s disease patients taking 250mg of daily niacin for six months
Objective: The main objective was to determine if α-synuclein could be modulated by niacin supplementation, contributing to improved Parkinson’s disease (PD) symptoms. Background: Niacin supplementation…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…
- « Previous Page
- 1
- 2
- 3
- 4
- …
- 7
- Next Page »