Mutations in the ATP13A2 gene and Parkinsonism: a preliminary review (Q34100399)

31 July 2017

12 references

25 April 2019

20 June 2019

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14 September 2019

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15 December 2019

23 July 2020

31 October 2020

6 November 2020

8 October 2022

28 November 2023

Mutations in the ATP13A2 gene and Parkinsonism: a preliminary review (English)

1 reference

genetic predisposition to disease

31 July 2017

11 references

25 April 2019

20 June 2019

30 June 2019

14 September 2019

28 September 2019

28 November 2019

15 December 2019

23 July 2020

10 September 2020

31 October 2020

6 November 2020

1 reference

14 September 2019

1 reference

28 September 2019

1 reference

28 November 2019

1 reference

15 December 2019

1 reference

proton-translocating ATPases

23 July 2020

1 reference

31 October 2020

1 reference

6 November 2020

parkinsonian syndrome

1 reference

Xinglong Yang

1 reference

31 July 2017

Yanming Xu

series ordinal

1 reference

31 July 2017

language of work or name

English

0 references

publication date

14 August 2014

14 references

BioMed Research International

31 July 2017

25 April 2019

20 June 2019

30 June 2019

14 September 2019

28 September 2019

28 November 2019

15 December 2019

23 July 2020

10 September 2020

31 October 2020

6 November 2020

8 October 2022

28 November 2023

14 references

31 July 2017

25 April 2019

20 June 2019

30 June 2019

14 September 2019

28 September 2019

28 November 2019

15 December 2019

23 July 2020

10 September 2020

31 October 2020

6 November 2020

8 October 2022

28 November 2023

2014

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31 July 2017

page(s)

371256

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Creative Commons Attribution 3.0 Unported

31 July 2017

12 references

25 April 2019

20 June 2019

30 June 2019

14 September 2019

28 September 2019

28 November 2019

15 December 2019

23 July 2020

31 October 2020

6 November 2020

8 October 2022

on focus list of Wikimedia project

28 November 2023

copyrighted

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cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147200

Manganese neurotoxicity: a focus on glutamate transporters

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147200

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147200

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147200

Genetics of Parkinson's disease--state of the art, 2013.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147200

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147200

Targeting chelatable iron as a therapeutic modality in Parkinson's disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147200

Lysosomal impairment in Parkinson's disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147200

The role of the Ala746Thr variant in the ATP13A2 gene among Chinese patients with Parkinson's disease.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147200

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147200

Atp13a2-deficient mice exhibit neuronal ceroid lipofuscinosis, limited α-synuclein accumulation and age-dependent sensorimotor deficits

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147200

Parkinson's disease and alpha synuclein: is Parkinson's disease a prion-like disorder?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147200

CLN5 and CLN8 protein association with ceramide synthase: biochemical and proteomic approaches.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147200

Lysosome-dependent pathways as a unifying theme in Parkinson's disease.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147200

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147200

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147200

Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147200

ATP13A2 (PARK9) polymorphisms influence the neurotoxic effects of manganese

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147200

ATP13A2 regulates mitochondrial bioenergetics through macroautophagy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147200

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147200

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147200

Fighting neurodegeneration with rapamycin: mechanistic insights

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147200

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147200

ATP13A2 variability in Taiwanese Parkinson's disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147200

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147200

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147200

The emerging role of iron dyshomeostasis in the mitochondrial decay of aging

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147200

Manganese and Parkinson's disease: a critical review and new findings

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147200

Pantothenate kinase-2 (Pank2) silencing causes cell growth reduction, cell-specific ferroportin upregulation and iron deregulation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147200

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147200

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147200

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147200

Parkinson's disease: from monogenic forms to genetic susceptibility factors

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147200

A novel transferrin/TfR2-mediated mitochondrial iron transport system is disrupted in Parkinson's disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147200

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147200

ATP13A2 variability in Parkinson disease.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147200

FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147200

Emerging pathways in genetic Parkinson's disease: Potential role of ceramide metabolism in Lewy body disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147200

Neurodegenerative lysosomal disorders: a continuum from development to late age.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147200

C. elegans model identifies genetic modifiers of alpha-synuclein inclusion formation during aging

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147200

Integral and associated lysosomal membrane proteins

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147200

ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147200

Neuronal ceroid lipofuscinosis: a common pathway?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147200

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147200

Iron metabolism in Parkinsonian syndromes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147200

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147200

Clinicogenetic study of PINK1 mutations in autosomal recessive early-onset parkinsonism

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147200

Characterization of the P5 subfamily of P-type transport ATPases in mice

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147200

Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147200

Neuronal ceroid-lipofuscinosis--late-infantile or Jansky-Bielschowsky type--revisited

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147200

The role of iron in senescence of dopaminergic neurons in Parkinson's disease.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147200

Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor-Rakeb syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147200

Chromosome 16 microdeletion in a patient with juvenile neuronal ceroid lipofuscinosis (Batten disease)

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147200

Kufs' disease: a critical reappraisal

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147200

Genetics and epigenetics of Parkinson's disease.

5 July 2018

1 reference

https://api.crossref.org/works/10.1155%2F2014%2F371256

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2014%2F371256

Rapid screening of ATP13A2 variant with high-resolution melting analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2014%2F371256

Novel ATP13A2 variant associated with Parkinson disease in Taiwan and Singapore

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2014%2F371256

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2014%2F371256

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2014%2F371256

ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2014%2F371256

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2014%2F371256

Detection of copy number changes in genes associated with Parkinson's disease in Iranian patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2014%2F371256

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2014%2F371256

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2014%2F371256

Mitochondrial inhibitor models of Huntington's disease and Parkinson's disease induce zinc accumulation and are attenuated by inhibition of zinc neurotoxicity in vitro or in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2014%2F371256

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2014%2F371256

Case-control study of environmental risk factors for Parkinson's disease in Belgium

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2014%2F371256

Individual dopaminergic neurons show raised iron levels in Parkinson disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2014%2F371256

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2014%2F371256

Adult-onset neuronal ceroid lipofuscinosis (Kufs disease) with autosomal dominant inheritance in Alabama

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2014%2F371256

Autosomal dominant adult neuronal ceroid lipofuscinosis: parkinsonism due to both striatal and nigral dysfunction

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2014%2F371256

The first three Russian cases of classical, late-infantile, neuronal ceroid lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2014%2F371256

Lack of association between three single nucleotide polymorphisms in the PARK9, PARK15, and BST1 genes and Parkinson's disease in the northern Han Chinese population.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147200

Juvenile dystonia-parkinsonism and dementia caused by a novel ATP13A2 frameshift mutation

28 October 2018

1 reference

12 December 2020

Increased incidence of Parkinson disease among relatives of patients with Gaucher disease

1 reference

12 December 2020

Serum vitamins and heavy metals in blood and urine, and the correlations among them in Parkinson's disease patients in China

1 reference

12 December 2020

Gene symbol: PARK2. Disease: Parkinsonism, juvenile, autosomal recessive

1 reference

12 December 2020

Juvenile parkinsonism associated with heterozygous frameshift ATP13A2 gene mutation

1 reference

12 December 2020

PLA2G6 variant in Parkinson's disease

1 reference

12 December 2020

Serum levels of zinc and copper in patients with Parkinson's disease

1 reference

12 December 2020

Identifiers

DOI

10.1155/2014/371256

1 reference

31 July 2017

1 reference

31 July 2017

1 reference