Establishment of an improved mouse model for infantile neuroaxonal dystrophy that shows early disease onset and bears a point mutation in Pla2g6.
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Neurodegeneration with brain iron accumulation: update on pathogenic mechanismsTECPR2 Associated Neuroaxonal Dystrophy in Spanish Water DogsValidation of the finding of hypertrophy of the clava in infantile neuroaxonal dystrophy/PLA2G6 by biometric analysis.Catalytic 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).Brain, blood, and iron: perspectives on the roles of erythrocytes and iron in neurodegeneration.Expression of PLA2G6 in human fetal development: Implications for infantile neuroaxonal dystrophy.A novel mitofusin 2 mutation causes canine fetal-onset neuroaxonal dystrophy.The metabolic serine hydrolases and their functions in mammalian physiology and disease.Calcium-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.Impairment of PARK14-dependent Ca(2+) signalling is a novel determinant of Parkinson's diseaseRandom mutagenesis of the mouse genome: a strategy for discovering gene function and the molecular basis of disease.Extensive aggregation of α-synuclein and tau in juvenile-onset neuroaxonal dystrophy: an autopsied individual with a novel mutation in the PLA2G6 gene-splicing siteIdentification of the PLA2G6 c.1579G>A Missense Mutation in Papillon Dog Neuroaxonal Dystrophy Using Whole Exome Sequencing Analysis.The neuropathology of neurodegeneration with brain iron accumulation.Defective lipid metabolism in neurodegeneration with brain iron accumulation (NBIA) syndromes: not only a matter of iron.Neuroaxonal dystrophy in PLA2G6 knockout mice.Mitochondrial dysfunction and defects in lipid homeostasis as therapeutic targets in neurodegeneration with brain iron accumulation.Pathogenesis of autosomal dominant hereditary spastic paraplegia (SPG6) revealed by a rat model.Ultrastructural features of canine neuroaxonal dystrophy in a Papillon dog.Identification of Novel Compound Mutations in PLA2G6-Associated Neurodegeneration Patient with Characteristic MRI Imaging.Mutations in the Drosophila homolog of human PLA2G6 give rise to age-dependent loss of psychomotor activity and neurodegeneration.
P2860
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P2860
Establishment of an improved mouse model for infantile neuroaxonal dystrophy that shows early disease onset and bears a point mutation in Pla2g6.
description
2009 nî lūn-bûn
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2009年の論文
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2009年学术文章
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2009年学术文章
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2009年学术文章
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2009年学术文章
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2009年学术文章
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2009年學術文章
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2009年學術文章
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2009年學術文章
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name
Establishment of an improved m ...... rs a point mutation in Pla2g6.
@en
Establishment of an improved m ...... rs a point mutation in Pla2g6.
@nl
type
label
Establishment of an improved m ...... rs a point mutation in Pla2g6.
@en
Establishment of an improved m ...... rs a point mutation in Pla2g6.
@nl
prefLabel
Establishment of an improved m ...... rs a point mutation in Pla2g6.
@en
Establishment of an improved m ...... rs a point mutation in Pla2g6.
@nl
P2093
P2860
P1476
Establishment of an improved m ...... rs a point mutation in Pla2g6.
@en
P2093
Chika Sawa
Hajime Kamijuku
Haruka Wada
Hisahiro Yoshida
Ichizo Nishino
Ikuo Miura
Kazuhiko Watabe
Ken-ichiro Seino
Masaru Taniguchi
Satoshi Kojo
P2860
P304
P356
10.2353/AJPATH.2009.090343
P407
P577
2009-11-05T00:00:00Z