Disorder of bulk lipid transfer? Lipid composition and distribution in cellular models of VPS13A disease
Objective: To study the overall lipid composition and distribution in red blood cells (RBCs) and neurons derived from VPS13A disease patients, a neurodegenerative disorder associated…From foot to head: look after your socks !
Objective: We reported the case of a 24 yo man, adressed to the neurologist by genetician for an unscrambled examination justified by a juvenile cataract…Calcium phenotype in cellular models of VPS13A disease
Objective: Since the Membrane contact sites (MCS) between ER and mitochondria are of particular importance for cellular calcium homeostasis, we hypothesize that MCS dysfunction in…Blood Lipid Biomarkers in Early Parkinson Disease and Parkinson Disease with Mild Cognitive Impairment
Objective: This study aims to investigate the association between comprehensive blood lipid biomarkers and Parkinson's disease (PD). Background: Studies have shown that the serum levels…The Correlation Analyses of Parkinson’s Disease with Serum Homocysteine, Folic Acid and Vitamin B12
Objective: To explore the associations of serum homocysteine (Hcy), folic acid (FA) and vitamin B12 (VitB12) levels with the severity of Parkinson's disease (PD), as…Serum Metabolomic Characterization of PLA2G6-associated Dystonia-Parkinsonism: a case-control biomarker study
Objective: PLA2G6 is the causative gene for autosomal recessive Dystonia-Parkinsonism (PARK14). This case-control biomarker study aimed to test serum metabolomics of patients diagnosed as PARK14.…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…Increased alpha-synuclein level in primary macrophages derived from patients with Parkinson’s disease
Objective: To assess glucocerebrosidase and alpha-synuclein level in primary macrophages derived from patients with Parkinson’s disease with and without GBA1 mutation. Background: Parkinson’s disease (PD)…The role of GBA1 mutations in the relationship between GBA1 and alpha-synuclein in Parkinson disease
Objective: The aim of the study was to understand how the E326K GBA1 mutation results in an increased risk for Parkinson disease, through influencing the…Sex differences in vascular risk factors for Parkinson’s disease
Objective: Our aim is to illustrate the incidence of vascular risk factors (VRF) in a cohort of patients with confirmed Parkinson's disease (PD) and characterize…
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