The role of ATP13A2 in Parkinson's disease: Clinical phenotypes and molecular mechanisms (Q38434200)

3 September 2017

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title

The role of ATP13A2 in Parkinson's disease: Clinical phenotypes and molecular mechanisms (English)

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3 September 2017

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Jin-Sung Park

1

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3 September 2017

Nicholas F Blair

series ordinal

2

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3 September 2017

Carolyn M Sue

series ordinal

3

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3 September 2017

language of work or name

English

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publication date

21 April 2015

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3 September 2017

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3 September 2017

30

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3 September 2017

770-779

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3 September 2017

6

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Hereditary juvenile parkinsonism with pyramidal signs and mental retardation.

3 September 2017

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Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36

21 January 2018

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Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase

21 January 2018

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Alpha-synuclein is part of a diverse and highly conserved interaction network that includes PARK9 and manganese toxicity

21 January 2018

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Parkinson's disease-linked human PARK9/ATP13A2 maintains zinc homeostasis and promotes α-Synuclein externalization via exosomes

21 January 2018

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ATP13A2 regulates mitochondrial bioenergetics through macroautophagy

21 January 2018

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PARK9-associated ATP13A2 localizes to intracellular acidic vesicles and regulates cation homeostasis and neuronal integrity

21 January 2018

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ATP13A2 mutations impair mitochondrial function in fibroblasts from patients with Kufor-Rakeb syndrome.

21 January 2018

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Loss of P-type ATPase ATP13A2/PARK9 function induces general lysosomal deficiency and leads to Parkinson disease neurodegeneration.

21 January 2018

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Deficiency of ATP13A2 leads to lysosomal dysfunction, α-synuclein accumulation, and neurotoxicity

21 January 2018

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ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease

21 January 2018

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Novel ATP13A2 variant associated with Parkinson disease in Taiwan and Singapore

21 January 2018

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Identification of p.Gln858* in ATP13A2 in two EOPD patients and presentation of their clinical features.

21 January 2018

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Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9).

21 January 2018

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ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation

21 January 2018

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Kufor Rakeb disease: autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia

21 January 2018

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Impaired sense of smell and color discrimination in monogenic and idiopathic Parkinson's disease.

21 January 2018

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Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism

21 January 2018

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PARK9-LINKED PARKINSONISM IN EASTERN ASIA: MUTATION DETECTION IN ATP13A2 AND CLINICAL PHENOTYPE

21 January 2018

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Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability

21 January 2018

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Recessively inherited parkinsonism: effect of ATP13A2 mutations on the clinical and neuroimaging phenotype

21 January 2018

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Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutations

21 January 2018

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21 January 2018

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ATP13A2 (PARK9) protein levels are reduced in brain tissue of cases with Lewy bodies

21 January 2018

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Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations

21 January 2018

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Electron-dense lamellated inclusions in 2 siblings with Kufor-Rakeb syndrome.

21 January 2018

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Common pathogenic effects of missense mutations in the P-type ATPase ATP13A2 (PARK9) associated with early-onset parkinsonism

21 January 2018

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ATP13A2 deficiency induces a decrease in cathepsin D activity, fingerprint-like inclusion body formation, and selective degeneration of dopaminergic neurons

21 January 2018

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Mutant Atp13a2 proteins involved in parkinsonism are degraded by ER-associated degradation and sensitize cells to ER-stress induced cell death

21 January 2018

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Characterization of cellular protective effects of ATP13A2/PARK9 expression and alterations resulting from pathogenic mutants

21 January 2018

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Regulation of intracellular manganese homeostasis by Kufor-Rakeb syndrome-associated ATP13A2 protein

21 January 2018

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Cd2+, Mn2+, Ni2+ and Se2+ toxicity to Saccharomyces cerevisiae lacking YPK9p the orthologue of human ATP13A2

21 January 2018

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Zn²⁺ dyshomeostasis caused by loss of ATP13A2/PARK9 leads to lysosomal dysfunction and alpha-synuclein accumulation

21 January 2018

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Parkinson's disease-associated human ATP13A2 (PARK9) deficiency causes zinc dyshomeostasis and mitochondrial dysfunction

21 January 2018

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Neuronal ceroid lipofuscinoses

21 January 2018

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Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis

21 January 2018

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A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers.

21 January 2018

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A one base pair deletion in the canine ATP13A2 gene causes exon skipping and late-onset neuronal ceroid lipofuscinosis in the Tibetan terrier

21 January 2018

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Parkinson's disease brain mitochondrial complex I has oxidatively damaged subunits and is functionally impaired and misassembled.

21 January 2018

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Anatomic and disease specificity of NADH CoQ1 reductase (complex I) deficiency in Parkinson's disease

21 January 2018

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Mitochondrial pathology and apoptotic muscle degeneration in Drosophila parkin mutants

21 January 2018

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Mitochondrial impairment in patients with Parkinson disease with the G2019S mutation in LRRK2.

21 January 2018

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DJ-1 is critical for mitochondrial function and rescues PINK1 loss of function

21 January 2018

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Alterations in the levels of iron, ferritin and other trace metals in Parkinson's disease and other neurodegenerative diseases affecting the basal ganglia

21 January 2018

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Patterns of levels of biological metals in CSF differ among neurodegenerative diseases.

21 January 2018

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ATP13A2 variability in Taiwanese Parkinson's disease

21 January 2018

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ATP13A2 variants in early-onset Parkinson's disease patients and controls

21 January 2018

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α-Synuclein-induced dopaminergic neurodegeneration in a rat model of Parkinson's disease occurs independent of ATP13A2 (PARK9).

21 January 2018

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Lack of association between ATP13A2 Ala746Thr variant and Parkinson's disease in Han population of mainland China.

21 January 2018

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ATP13A2 G2236A variant is rare in patients with early-onset Parkinson's disease and familial Parkinson's disease from Mainland China

21 January 2018

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ATP13A2 variability in Parkinson disease.

21 January 2018

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Genetic association study of the P-type ATPase ATP13A2 in late-onset Parkinson's disease.

21 January 2018

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Parkin mutations and susceptibility alleles in late-onset Parkinson's disease

21 January 2018

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PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism.

21 January 2018

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Deciphering the role of heterozygous mutations in genes associated with parkinsonism

21 January 2018

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A heterozygous effect for PINK1 mutations in Parkinson's disease?

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/MDS.26243

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3 September 2017

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