Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability
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Linking F-box protein 7 and parkin to neuronal degeneration in Parkinson's disease (PD)Cellular function and pathological role of ATP13A2 and related P-type transport ATPases in Parkinson's disease and other neurological disordersThe FP domains of PI31 and Fbxo7 have the same protein fold but very different modes of protein-protein interactionNeurodegeneration with brain iron accumulation: diagnosis and managementATP13A2 and Alpha-synuclein: a Metal Taste in AutophagyPARK9-associated ATP13A2 localizes to intracellular acidic vesicles and regulates cation homeostasis and neuronal integrityATP13A2 (PARK9) polymorphisms influence the neurotoxic effects of manganeseATP13A2 deficiency induces a decrease in cathepsin D activity, fingerprint-like inclusion body formation, and selective degeneration of dopaminergic neuronsMutation in the SYNJ1 gene associated with autosomal recessive, early-onset ParkinsonismGenetics of neurodegeneration with brain iron accumulationNeurodegeneration with Brain Iron Accumulation: Clinicoradiological Approach to Diagnosis.Neuroferritinopathy: a new inborn error of iron metabolismA one base pair deletion in the canine ATP13A2 gene causes exon skipping and late-onset neuronal ceroid lipofuscinosis in the Tibetan terrier.Mutations 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 parkinsonismATP13A2/PARK9 Deficiency Neither Cause Lysosomal Impairment Nor Alter α-Synuclein Metabolism in SH-SY5Y Cells.Mutant Atp13a2 proteins involved in parkinsonism are degraded by ER-associated degradation and sensitize cells to ER-stress induced cell death.Characterization of cellular protective effects of ATP13A2/PARK9 expression and alterations resulting from pathogenic mutants.Beyond ubiquitination: the atypical functions of Fbxo7 and other F-box proteins.Altered apoptosis regulation in Kufor-Rakeb syndrome patients with mutations in the ATP13A2 geneThe neuropathology of neurodegeneration with brain iron accumulation.The role of ATP13A2 in Parkinson's disease: Clinical phenotypes and molecular mechanisms.The role of Ca2+ signaling in Parkinson's disease.Exosomes in Toxicology: Relevance to Chemical Exposure and Pathogenesis of Environmentally Linked Diseases.ATP13A2 variability in Taiwanese Parkinson's disease.Complicated hereditary spastic paraplegia due to ATP13A2 mutations: what's in a name?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.Parkinson disease related ATP13A2 evolved early in animal evolution.Electron-dense lamellated inclusions in 2 siblings with Kufor-Rakeb syndrome.Genetic analysis of ATP13A2, PLA2G6 and FBXO7 in a cohort of Chinese patients with early-onset Parkinson's disease
P2860
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P2860
Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability
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
Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability
@ast
Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability
@en
Novel ATP13A2
@nl
type
label
Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability
@ast
Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability
@en
Novel ATP13A2
@nl
prefLabel
Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability
@ast
Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability
@en
Novel ATP13A2
@nl
P2093
P2860
P50
P1433
P1476
Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability
@en
P2093
Ben A Oostra
Chiara Pisciotta
Francesca Punzo
Guido J Breedveld
Sabina Pappatà
Vincenzo Bonifati
P2860
P2888
P356
10.1007/S10048-010-0259-0
P577
2010-09-21T00:00:00Z