Keywords: Parkinson's disease; Parkinsonism; Genetics; SNCA; LRRK2; VPS35; Parkin; PINK1; DJ-1; ATP13A2; PLA2G6; FBXO7; DNAJC6; SYNJ1
مقالات ISI (ترجمه نشده)
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Oculogyric crises in PLA2G6 associated neurodegeneration
Keywords: Oculogyric crises; PLA2G6 associated neurodegeneration; PLA2G6; Neurodegeneration with brain iron accumulation; Parkinsonism;
Part B: Morphometric and transcriptomic responses to sub-chronic exposure to the polycyclic aromatic hydrocarbon phenanthrene in the fathead minnow (Pimephales promelas)
Keywords: PNPLA2; patatin-like phospholipase domain containing 2; APOE; apolipoprotein E; NPC1; Niemann-Pick disease, type C1; LCAT; lecithin-cholesterol acyltransferase; DGAT1; diacylglycerol O-acyltransferase 1; LRP1; low density lipoprotein-related protein 1 (al
A new PLA2G6 mutation in a family with infantile neuroaxonal dystrophy
Keywords: Infantile neuroaxonal dystrophy; PLA2G6; Axonal degeneration; mRNA nonsense-mediated decay; INAD; infantile neuroaxonal dystrophy; NMD; nonsense-mediated decay; ACTB; beta-actin;
Review articleInfantile neuroaxonal dystrophy and PLA2G6-associated neurodegeneration: An update for the diagnosis
Keywords: Infantile neuroaxonal dystrophy; PLAN; PLA2G6; Atypical NAD; Neurodegeneration with brain iron accumulation;
PLA2G6 accumulates in Lewy bodies in PARK14 and idiopathic Parkinson's disease
Keywords: Parkinson's disease; PARK14; Lewy body; Phosphorylated α-synuclein; PLA2G6;
Ageing sensitized by iPLA2β deficiency induces liver fibrosis and intestinal atrophy involving suppression of homeostatic genes and alteration of intestinal lipids and bile acids
Keywords: ACC; acetyl-CoA carboxylase; ATF6; activating transcription factor6; AB-PAS; alcian blue-periodic acidschiff; ACC; acetyl-CoA carboxylase; ACSL; long-chain acyl-CoA synthetase; Bad; Bcl-2-associated death promoter; Bax; Bcl-2-like protein 4; Bcl-2; B-cell
Identification of a novel mutation in PLA2G6 gene in a Chinese pedigree with familial cortical myoclonic tremor with epilepsy
Keywords: Cortical myoclonic tremor with epilepsy; PLA2G6; Whole-exome sequencing;
iPLA2β deficiency attenuates obesity and hepatic steatosis in ob/ob mice through hepatic fatty-acyl phospholipid remodeling
Keywords: AA; arachidonic acid; Acox1; acyl-CoA oxidase; ATGL; adipocyte triglyceride lipase; CCTα; phosphate cytidylyltransferase 1, choline α; CEPT; choline/ethanolaminephosphotransferase 1; CE; cholesterol esters; CHOL; cholesterol; CM; chylomicrons; CPT1; car
Neuroimaging studies and whole exome sequencing of PLA2G6-associated neurodegeneration in a family with intrafamilial phenotypic heterogeneity
Keywords: NBIA; Intrafamilial phenotypic variability; PLAN; PLA2G6; Whole exome sequencing;
Sensitization to autoimmune hepatitis in group VIA calcium-independent phospholipase A2-null mice led to duodenal villous atrophy with apoptosis, goblet cell hyperplasia and leaked bile acids
Keywords: AB-PAS; alcian blue-periodic acid schiff; AIH; autoimmune hepatitis; ALT; alanine aminotransferase; AP; alkaline phosphatase; AST; aspartate aminotransferase; Bcl-2; B-cell lymphoma 2; CA; cholic acid; CCL; chemokine ligand; CCR; chemokine receptor; CDCA;
PLA2G6-associated neurodegeneration (PLAN): Further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease
Keywords: Neurodegeneration with brain iron accumulation; NBIA; PLA2G6; INAD; PLAN;
Four novel rare mutations of PLA2G6 in Chinese population with Parkinson's disease
Keywords: Parkinson's diseases; PLA2G6; Mutations; Phospholipase; Chinese populations;
Association between PLA2G6 gene polymorphisms and Parkinson's disease in the Chinese Han population
Keywords: Parkinson's disease; PLA2G6; Single nucleotide polymorphisms; rs4375; rs2267369; rs132985; rs2284063;
Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations
Keywords: PLA2G6; PANK2; Lewy bodies; tau; parkinsonism;
Allelic and phenotypic spectrum of plasma triglycerides
Keywords: ABL; abetalipoproteinemia; ANGPTL3; angiopoietin-like 3; ANGPTL4; angiopoietin-like 4; APOA4; apolipoprotein A-IV; APOA5; apolipoprotein A-V; APOB; apolipoprotein B; APOC2; apolipoprotein C-II; APOC3; apolipoprotein C-III; APOE; apolipoprotein E; CAD; cor
Expression of PLA2G6 in human fetal development: Implications for infantile neuroaxonal dystrophy
Keywords: INAD; infantile neuroaxonal dystrophy; NBIA; neurodegeneration with brain iron accumulation; PCW; post-conception weeks; PKAN; pantothenate-kinase associated neurodegeneration; SVZ; subventricular zone; VZ; ventricular zone; PLA2G6; INAD; Neurodegeneratio
Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: Implications for molecular diagnosis
Keywords: PLA2G6; PLAN; Duplication; Deletion; MLPA; ARMD;