Novel ATP13A2 variant associated with Parkinson disease in Taiwan and Singapore.
about
Parkinson's disease: from monogenic forms to genetic susceptibility factorsEmerging preclinical pharmacological targets for Parkinson's diseaseCellular function and pathological role of ATP13A2 and related P-type transport ATPases in Parkinson's disease and other neurological disordersATP13A2 and Alpha-synuclein: a Metal Taste in AutophagyPARK9-associated ATP13A2 localizes to intracellular acidic vesicles and regulates cation homeostasis and neuronal integrityLack of c9orf72 repeat expansion in taiwanese patients with mixed neurodegenerative disordersNew Therapeutics to Modulate Mitochondrial Function in Neurodegenerative Disorders.Mutations in the ATP13A2 gene and Parkinsonism: a preliminary review.Regulation of intracellular manganese homeostasis by Kufor-Rakeb syndrome-associated ATP13A2 proteinCommon pathogenic effects of missense mutations in the P-type ATPase ATP13A2 (PARK9) associated with early-onset parkinsonismThe pallidopyramidal syndromes: nosology, aetiology and pathogenesis.Mutational analysis of angiogenin gene in Parkinson's disease.Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variabilityATP13A2/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.Novel variant Pro143Ala in HTRA2 contributes to Parkinson's disease by inducing hyperphosphorylation of HTRA2 protein in mitochondria.Dysregulation of the causative genes for hereditary parkinsonism in the midbrain in Parkinson's disease.Lack of association between the ATP13A2 A746T variant and Parkinson's disease susceptibility in Han Chinese: a meta-analysis.The role of ATP13A2 in Parkinson's disease: Clinical phenotypes and molecular mechanisms.Plasma α-synuclein predicts cognitive decline in Parkinson's disease.Disorders of lysosomal acidification-The emerging role of v-ATPase in aging and neurodegenerative disease.ATP13A2 variability in Taiwanese Parkinson's disease.The role of the Ala746Thr variant in the ATP13A2 gene among Chinese patients with Parkinson's disease.Cd2+, Mn2+, Ni2+ and Se2+ toxicity to Saccharomyces cerevisiae lacking YPK9p the orthologue of human ATP13A2Epigenetics in Parkinson's Disease.Lack of TMEM230 mutations in patients with familial and sporadic Parkinson's disease in a Taiwanese population.Developmental expression of P5 ATPase mRNA in the mouse.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.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 variant associated with Parkinson disease in Taiwan and Singapore.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
2008年學術文章
@zh-hant
name
Novel ATP13A2 variant associated with Parkinson disease in Taiwan and Singapore.
@en
Novel ATP13A2 variant associated with Parkinson disease in Taiwan and Singapore.
@nl
type
label
Novel ATP13A2 variant associated with Parkinson disease in Taiwan and Singapore.
@en
Novel ATP13A2 variant associated with Parkinson disease in Taiwan and Singapore.
@nl
prefLabel
Novel ATP13A2 variant associated with Parkinson disease in Taiwan and Singapore.
@en
Novel ATP13A2 variant associated with Parkinson disease in Taiwan and Singapore.
@nl
P2093
P1433
P1476
Novel ATP13A2 variant associated with Parkinson disease in Taiwan and Singapore.
@en
P2093
P304
P356
10.1212/01.WNL.0000335167.72412.68
P407
P577
2008-11-01T00:00:00Z