Neurodegeneration associated with genetic defects in phospholipase A(2).
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Neurodegeneration with brain iron accumulation: update on pathogenic mechanismsParkinson's disease: from monogenic forms to genetic susceptibility factorsMammalian patatin domain containing proteins: a family with diverse lipolytic activities involved in multiple biological functionsPhospholipase A2 enzymes: physical structure, biological function, disease implication, chemical inhibition, and therapeutic interventionNew findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutationsNeurodegeneration with brain iron accumulation: diagnosis and managementGenetics of neurodegeneration with brain iron accumulationClinical and genetic delineation of neurodegeneration with brain iron accumulationGenetic ablation of PLA2G6 in mice leads to cerebellar atrophy characterized by Purkinje cell loss and glial cell activationInsertion of the Ca²⁺-independent phospholipase A₂ into a phospholipid bilayer via coarse-grained and atomistic molecular dynamics simulationsLate-onset neurodegeneration with brain iron accumulation with diffusion tensor magnetic resonance imagingNeurodegeneration with Brain Iron Accumulation: Clinicoradiological Approach to Diagnosis.Neurodegeneration with brain iron accumulation: an overview.Validation of the finding of hypertrophy of the clava in infantile neuroaxonal dystrophy/PLA2G6 by biometric analysis.Monozygotic twins with infantile neuroaxonal dystrophy: A case report and literature reviewCatalytic function of PLA2G6 is impaired by mutations associated with infantile neuroaxonal dystrophy but not dystonia-parkinsonismPLA2G6-associated neurodegeneration (PLAN): further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease.Childhood disorders of neurodegeneration with brain iron accumulation (NBIA).Imaging decreased brain docosahexaenoic acid metabolism and signaling in iPLA(2)β (VIA)-deficient mice.Brain, blood, and iron: perspectives on the roles of erythrocytes and iron in neurodegeneration.PLA2G6 mutations in PARK14-linked young-onset parkinsonism and sporadic Parkinson's disease.Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2.Expression of PLA2G6 in human fetal development: Implications for infantile neuroaxonal dystrophy.Inherited neuroaxonal dystrophy in dogs causing lethal, fetal-onset motor system dysfunction and cerebellar hypoplasia.Compound heterozygous PNPLA6 mutations cause Boucher-Neuhäuser syndrome with late-onset ataxia.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.iPLA2β knockout mouse, a genetic model for progressive human motor disorders, develops age-related neuropathology.A novel mitofusin 2 mutation causes canine fetal-onset neuroaxonal dystrophy.Molecular diagnosis of infantile Neuro axonal Dystrophy by Next Generation Sequencing.Imaging brain signal transduction and metabolism via arachidonic and docosahexaenoic acid in animals and humans.Deficiency of Calcium-Independent Phospholipase A2 Beta Induces Brain Iron Accumulation through Upregulation of Divalent Metal Transporter 1Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegenerationCalcium-independent phospholipases A2 and their roles in biological processes and diseases.Severe disturbance in the Ca2+ signaling in astrocytes from mouse models of human infantile neuroaxonal dystrophy with mutated Pla2g6Genetic 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.Disturbed brain phospholipid and docosahexaenoic acid metabolism in calcium-independent phospholipase A(2)-VIA (iPLA(2)β)-knockout miceImpairment of interrelated iron- and copper homeostatic mechanisms in brain contributes to the pathogenesis of neurodegenerative disorders.On the complexity of clinical and molecular bases of neurodegeneration with brain iron accumulation.Roles of acidic phospholipids and nucleotides in regulating membrane binding and activity of a calcium-independent phospholipase A2 isoform
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P2860
Neurodegeneration associated with genetic defects in phospholipase A(2).
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 17 September 2008
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Neurodegeneration associated with genetic defects in phospholipase A
@nl
Neurodegeneration associated with genetic defects in phospholipase A(2).
@en
type
label
Neurodegeneration associated with genetic defects in phospholipase A
@nl
Neurodegeneration associated with genetic defects in phospholipase A(2).
@en
altLabel
Neurodegeneration associated with genetic defects in phospholipase A2
@en
prefLabel
Neurodegeneration associated with genetic defects in phospholipase A
@nl
Neurodegeneration associated with genetic defects in phospholipase A(2).
@en
P2093
P2860
P1433
P1476
Neurodegeneration associated with genetic defects in phospholipase A(2).
@en
P2093
A Simonati
B Levinson
D Rodriguez
I Carrilho
I Desguerre
P2860
P304
P356
10.1212/01.WNL.0000327094.67726.28
P407
P577
2008-09-17T00:00:00Z