Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism
about
Identification of novel ATP13A2 interactors and their role in α-synuclein misfolding and toxicityCellular function and pathological role of ATP13A2 and related P-type transport ATPases in Parkinson's disease and other neurological disordersParkinson's disease-linked human PARK9/ATP13A2 maintains zinc homeostasis and promotes α-Synuclein externalization via exosomes."Manganese-induced neurotoxicity: a review of its behavioral consequences and neuroprotective strategies"Zn²⁺ dyshomeostasis caused by loss of ATP13A2/PARK9 leads to lysosomal dysfunction and alpha-synuclein accumulationPARK9-associated ATP13A2 localizes to intracellular acidic vesicles and regulates cation homeostasis and neuronal integrityATP13A2/PARK9 regulates secretion of exosomes and α-synucleinGeneration of SNCA Cell Models Using Zinc Finger Nuclease (ZFN) Technology for Efficient High-Throughput Drug ScreeningWhispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 geneNeurodegeneration with Brain Iron Accumulation: Clinicoradiological Approach to Diagnosis.Parkinson's disease-associated human ATP13A2 (PARK9) deficiency causes zinc dyshomeostasis and mitochondrial dysfunctionATP13A2 (PARK9) protein levels are reduced in brain tissue of cases with Lewy bodiesMutations in the ATP13A2 gene and Parkinsonism: a preliminary review.Common pathogenic effects of missense mutations in the P-type ATPase ATP13A2 (PARK9) associated with early-onset parkinsonismThe pallidopyramidal syndromes: nosology, aetiology and pathogenesis.Deficiency of ATP13A2 leads to lysosomal dysfunction, α-synuclein accumulation, and neurotoxicity.Analysis of Thr12Met and Ala1144Thr mutations of the ATP13A2 gene in Parkinson's disease patients in Xinjiang Uygur and Han ethnic groups.α-Synuclein-independent histopathological and motor deficits in mice lacking the endolysosomal Parkinsonism protein Atp13a2.Characterization of cellular protective effects of ATP13A2/PARK9 expression and alterations resulting from pathogenic mutants.Loss of P-type ATPase ATP13A2/PARK9 function induces general lysosomal deficiency and leads to Parkinson disease neurodegeneration.Atp13a2-deficient mice exhibit neuronal ceroid lipofuscinosis, limited α-synuclein accumulation and age-dependent sensorimotor deficits.Activation of β-Glucocerebrosidase Reduces Pathological α-Synuclein and Restores Lysosomal Function in Parkinson's Patient Midbrain Neurons.Lysosomal impairment in Parkinson's disease.Excess iron harms the brain: the syndromes of neurodegeneration with brain iron accumulation (NBIA).Dysfunction of the autophagy/lysosomal degradation pathway is a shared feature of the genetic synucleinopathies."Atypical" atypical parkinsonism: new genetic conditions presenting with features of progressive supranuclear palsy, corticobasal degeneration, or multiple system atrophy-a diagnostic guide.Neuronal ceroid lipofuscinosis: impact of recent genetic advances and expansion of the clinicopathologic spectrum.Pathophysiology and treatment of neurodegeneration with brain iron accumulation in the pediatric population.The role of ATP13A2 in Parkinson's disease: Clinical phenotypes and molecular mechanisms.Endocytic membrane trafficking and neurodegenerative disease.The role of Ca2+ signaling in Parkinson's disease.Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA).The Parkinson's disease-associated genes ATP13A2 and SYT11 regulate autophagy via a common pathwayATP13A2/PARK9 regulates endo-/lysosomal cargo sorting and proteostasis through a novel PI(3, 5)P2-mediated scaffolding function.Familial knockin mutation of LRRK2 causes lysosomal dysfunction and accumulation of endogenous insoluble α-synuclein in neurons.Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).Phenotypic variability of parkin mutations in single kindred.Lysosomal trafficking defects link Parkinson's disease with Gaucher's disease.Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9).Genetic analysis of the ATP1B4 gene in Chinese Han patients with Parkinson's disease.
P2860
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P2860
Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism
description
2011 nî lūn-bûn
@nan
2011 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Pathogenic effects of novel mu ...... rm of early-onset parkinsonism
@ast
Pathogenic effects of novel mu ...... rm of early-onset parkinsonism
@en
Pathogenic effects of novel mu ...... rm of early-onset parkinsonism
@en-gb
Pathogenic effects of novel mu ...... rm of early-onset parkinsonism
@nl
type
label
Pathogenic effects of novel mu ...... rm of early-onset parkinsonism
@ast
Pathogenic effects of novel mu ...... rm of early-onset parkinsonism
@en
Pathogenic effects of novel mu ...... rm of early-onset parkinsonism
@en-gb
Pathogenic effects of novel mu ...... rm of early-onset parkinsonism
@nl
prefLabel
Pathogenic effects of novel mu ...... rm of early-onset parkinsonism
@ast
Pathogenic effects of novel mu ...... rm of early-onset parkinsonism
@en
Pathogenic effects of novel mu ...... rm of early-onset parkinsonism
@en-gb
Pathogenic effects of novel mu ...... rm of early-onset parkinsonism
@nl
P2093
P3181
P356
P1433
P1476
Pathogenic effects of novel mu ...... rm of early-onset parkinsonism
@en
P2093
André Heimbach
Antony A Cooper
Barbara Stiller
Carolyn M Sue
David Veivers
Dimitri Krainc
Jin-Sung Park
Prachi Mehta
Victor S Fung
P304
P3181
P356
10.1002/HUMU.21527
P407
P577
2011-08-01T00:00:00Z