Catalytic function of PLA2G6 is impaired by mutations associated with infantile neuroaxonal dystrophy but not dystonia-parkinsonism
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Neurodegeneration with brain iron accumulation: update on pathogenic mechanismsGenetics of neurodegeneration with brain iron accumulationGenetic ablation of PLA2G6 in mice leads to cerebellar atrophy characterized by Purkinje cell loss and glial cell activationPLA2G6 mutations in PARK14-linked young-onset parkinsonism and sporadic Parkinson's disease.Neurodegeneration with brain iron accumulation: a diagnostic algorithm.Binding of the radioligand SIL23 to α-synuclein fibrils in Parkinson disease brain tissue establishes feasibility and screening approaches for developing a Parkinson disease imaging agent.The metabolic serine hydrolases and their functions in mammalian physiology and disease.Deficiency of Calcium-Independent Phospholipase A2 Beta Induces Brain Iron Accumulation through Upregulation of Divalent Metal Transporter 1PLA2G6-associated Dystonia-Parkinsonism: Case Report and Literature Review.Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegenerationCalcium-independent phospholipases A2 and their roles in biological processes and diseases.Genetic Analysis of PLA2G6 in 22 Indian Families with Infantile Neuroaxonal Dystrophy, Atypical Late-Onset Neuroaxonal Dystrophy and Dystonia Parkinsonism Complex.Loss of PLA2G6 leads to elevated mitochondrial lipid peroxidation and mitochondrial dysfunction.Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi familiesDopaminergic, serotonergic, and noradrenergic deficits in Parkinson disease.Impairment of PARK14-dependent Ca(2+) signalling is a novel determinant of Parkinson's diseaseAnalysis of ATP13A2 in large neurodegeneration with brain iron accumulation (NBIA) and dystonia-parkinsonism cohorts.Review: Insights into molecular mechanisms of disease in neurodegeneration with brain iron accumulation: unifying theories.Brain iron accumulation affects myelin-related molecular systems implicated in a rare neurogenetic disease family with neuropsychiatric features.Identification of the PLA2G6 c.1579G>A Missense Mutation in Papillon Dog Neuroaxonal Dystrophy Using Whole Exome Sequencing Analysis.Syndromes of neurodegeneration with brain iron accumulation (NBIA): an update on clinical presentations, histological and genetic underpinnings, and treatment considerations.Pantothenate kinase-associated neurodegeneration (PKAN) and PLA2G6-associated neurodegeneration (PLAN): review of two major neurodegeneration with brain iron accumulation (NBIA) phenotypes.Neuroaxonal dystrophy in PLA2G6 knockout mice.Cutaneous malignant melanoma and Parkinson disease: Common pathways?Infantile and childhood onset PLA2G6-associated neurodegeneration in a large North African cohort.Computer-aided drug design guided by hydrogen/deuterium exchange mass spectrometry: A powerful combination for the development of potent and selective inhibitors of Group VIA calcium-independent phospholipase A2.Mitochondrial dysfunction and defects in lipid homeostasis as therapeutic targets in neurodegeneration with brain iron accumulation.Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA).Follow-up study of 25 Chinese children with PLA2G6-associated neurodegeneration.PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia.A sensitive assay reveals structural requirements for α-synuclein fibril growth.Mutations in the Drosophila homolog of human PLA2G6 give rise to age-dependent loss of psychomotor activity and neurodegeneration.The structure of iPLA2β reveals dimeric active sites and suggests mechanisms of regulation and localization.
P2860
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P2860
Catalytic function of PLA2G6 is impaired by mutations associated with infantile neuroaxonal dystrophy but not dystonia-parkinsonism
description
2010 nî lūn-bûn
@nan
2010 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Catalytic function of PLA2G6 i ...... but not dystonia-parkinsonism
@ast
Catalytic function of PLA2G6 i ...... but not dystonia-parkinsonism
@en
type
label
Catalytic function of PLA2G6 i ...... but not dystonia-parkinsonism
@ast
Catalytic function of PLA2G6 i ...... but not dystonia-parkinsonism
@en
prefLabel
Catalytic function of PLA2G6 i ...... but not dystonia-parkinsonism
@ast
Catalytic function of PLA2G6 i ...... but not dystonia-parkinsonism
@en
P2093
P2860
P921
P1433
P1476
Catalytic function of PLA2G6 i ...... but not dystonia-parkinsonism
@en
P2093
Daniel E O'Brien
Laura A Engel
Mengyang Sun
Paul T Kotzbauer
Zheng Jing
P2860
P304
P356
10.1371/JOURNAL.PONE.0012897
P407
P577
2010-09-23T00:00:00Z