Common pathogenic effects of missense mutations in the P-type ATPase ATP13A2 (PARK9) associated with early-onset parkinsonism (Q34286404)

1 August 2017

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

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1 August 2017

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parkinsonian syndrome

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Alzbeta Trancikova

3

0 references

Liliane Glauser

7

object named as

Liliane Glauser

1 reference

1 August 2017

4

Klodjan Stafa

1 reference

1 August 2017

Agata Podhajska

1

1 reference

1 August 2017

Alessandra Musso

2

1 reference

1 August 2017

Roger Moser

5

1 reference

1 August 2017

Sarah Sonnay

6

1 reference

1 August 2017

Darren J Moore

8

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1 August 2017

language of work or name

English

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publication date

29 June 2012

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1 August 2017

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1 August 2017

7

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6

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1 August 2017

e39942

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Creative Commons Attribution 4.0 International

1 August 2017

start time

29 June 2012

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

describes a project that uses

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3386943/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

cites work

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ATP13A2 regulates mitochondrial bioenergetics through macroautophagy

6 July 2018

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

6 July 2018

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

6 July 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

6 July 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

6 July 2018

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Dopaminergic neuronal loss, reduced neurite complexity and autophagic abnormalities in transgenic mice expressing G2019S mutant LRRK2.

6 July 2018

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Identification of a gain-of-function mutation in a Golgi P-type ATPase that enhances Mn2+ efflux and protects against toxicity.

6 July 2018

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Vesicular distribution of Secretory Pathway Ca²+-ATPase isoform 1 and a role in manganese detoxification in liver-derived polarized cells

6 July 2018

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

6 July 2018

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

6 July 2018

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

6 July 2018

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Mendelian forms of Parkinson's disease

6 July 2018

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Parkin mediates the degradation-independent ubiquitination of Hsp70

6 July 2018

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ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease

6 July 2018

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The familial Parkinsonism gene LRRK2 regulates neurite process morphology

6 July 2018

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Genetics of Parkinson's disease and parkinsonism

6 July 2018

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

6 July 2018

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Molecular pathophysiology of Parkinson's disease

6 July 2018

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

6 July 2018

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Rab7 associates with early endosomes to mediate sorting and transport of Semliki forest virus to late endosomes

6 July 2018

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Subversion of cellular autophagosomal machinery by RNA viruses

6 July 2018

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Association of DJ-1 and parkin mediated by pathogenic DJ-1 mutations and oxidative stress

6 July 2018

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

6 July 2018

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SPCA1 pumps and Hailey-Hailey disease

6 July 2018

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Functional expression of heterologous proteins in yeast: insights into Ca2+ signaling and Ca2+-transporting ATPases

6 July 2018

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Visualization of retroviral replication in living cells reveals budding into multivesicular bodies.

6 July 2018

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Rab proteins mediate Golgi transport of caveola-internalized glycosphingolipids and correct lipid trafficking in Niemann-Pick C cells

6 July 2018

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

6 July 2018

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Bafilomycins: a class of inhibitors of membrane ATPases from microorganisms, animal cells, and plant cells

6 July 2018

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

6 July 2018

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ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation

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

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

21 January 2018

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PubMed

https://pubmed.ncbi.nlm.nih.gov/22768177

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0039942

1 reference

1 August 2017

0 references

1 reference

1 August 2017

1 reference