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

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English	Mutations in the ATP13A2 gene and Parkinsonism: a preliminary review	scientific article

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

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

28 November 2023

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

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

Parkinson's disease

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

genetic variation

1 reference

14 September 2019

1 reference

28 September 2019

transport protein

1 reference

28 November 2019

membrane protein

1 reference

15 December 2019

genetic predisposition to disease

1 reference

23 July 2020

proton-translocating ATPases

1 reference

31 October 2020

1 reference

6 November 2020

parkinsonian syndrome

1 reference

based on heuristic

inferred from title

author name string

Xinglong Yang

1

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

Yanming Xu

2

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

language of work or name

0 references

publication date

14 August 2014

14 references

Europe PubMed Central

PubMed publication ID

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

BioMed Research International

14 references

Europe PubMed Central

PubMed publication ID

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

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

371256

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

copyright license

Creative Commons Attribution 3.0 Unported

12 references

Europe PubMed Central

25 April 2019

Europe PubMed Central

20 June 2019

Europe PubMed Central

30 June 2019

Europe PubMed Central

14 September 2019

Europe PubMed Central

28 September 2019

Europe PubMed Central

28 November 2019

Europe PubMed Central

15 December 2019

Europe PubMed Central

23 July 2020

Europe PubMed Central

31 October 2020

Europe PubMed Central

6 November 2020

Europe PubMed Central

8 October 2022

Europe PubMed Central

28 November 2023

copyright status

0 references

on focus list of Wikimedia project

0 references

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

5 July 2018

Manganese neurotoxicity: a focus on glutamate transporters

1 reference

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

5 July 2018

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

1 reference

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

5 July 2018

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

1 reference

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

5 July 2018

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

1 reference

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

5 July 2018

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

1 reference

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

5 July 2018

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

1 reference

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

5 July 2018

Lysosomal impairment in Parkinson's disease

1 reference

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

5 July 2018

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

1 reference

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

5 July 2018

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

1 reference

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

5 July 2018

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

1 reference

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

5 July 2018

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

1 reference

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

5 July 2018

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

1 reference

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

5 July 2018

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

1 reference

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

5 July 2018

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

1 reference

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

5 July 2018

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

1 reference

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

5 July 2018

Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis

1 reference

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

5 July 2018

ATP13A2 (PARK9) polymorphisms influence the neurotoxic effects of manganese

1 reference

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

5 July 2018

ATP13A2 regulates mitochondrial bioenergetics through macroautophagy

1 reference

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

5 July 2018

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

1 reference

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

5 July 2018

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

1 reference

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

5 July 2018

Fighting neurodegeneration with rapamycin: mechanistic insights

1 reference

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

5 July 2018

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

1 reference

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

5 July 2018

ATP13A2 variability in Taiwanese Parkinson's disease

1 reference

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

5 July 2018

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

1 reference

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

5 July 2018

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

1 reference

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

5 July 2018

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

1 reference

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

5 July 2018

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

1 reference

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

5 July 2018

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

1 reference

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

5 July 2018

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

1 reference

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

5 July 2018

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

1 reference

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

5 July 2018

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

1 reference

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

5 July 2018

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

1 reference

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

5 July 2018

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

1 reference

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

5 July 2018

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

1 reference

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

5 July 2018

ATP13A2 variability in Parkinson disease.

1 reference

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

5 July 2018

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

1 reference

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

5 July 2018

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

1 reference

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

5 July 2018

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

1 reference

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

5 July 2018

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

1 reference

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5 July 2018

Integral and associated lysosomal membrane proteins

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5 July 2018

ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease

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5 July 2018

Neuronal ceroid lipofuscinosis: a common pathway?

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5 July 2018

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

1 reference

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

5 July 2018

Iron metabolism in Parkinsonian syndromes

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5 July 2018

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

1 reference

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

5 July 2018

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

1 reference

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5 July 2018

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

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5 July 2018

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

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

5 July 2018

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

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

5 July 2018

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

1 reference

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

5 July 2018

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

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

5 July 2018

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

1 reference

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

5 July 2018

Kufs' disease: a critical reappraisal

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

5 July 2018

Genetics and epigenetics of Parkinson's disease.

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

Rapid screening of ATP13A2 variant with high-resolution melting analysis

1 reference

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

21 January 2018

Novel ATP13A2 variant associated with Parkinson disease in Taiwan and Singapore

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

Individual dopaminergic neurons show raised iron levels in Parkinson disease.

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

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.

1 reference

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

28 October 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/25197640

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/25197640

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/25197640

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/25197640

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Juvenile parkinsonism associated with heterozygous frameshift ATP13A2 gene mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/25197640

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

PLA2G6 variant in Parkinson's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/25197640

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/25197640

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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10.1155/2014/371256

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

ResearchGate publication ID

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