Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability (Q34534474)

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14 February 2020

title

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

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14 February 2020

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14 February 2020

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14 February 2020

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14 February 2020

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14 February 2020

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14 February 2020

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14 February 2020

Ben A Oostra

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14 February 2020

Guido J Breedveld

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14 February 2020

Chiara Pisciotta

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14 February 2020

Francesca Punzo

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14 February 2020

Sabina Pappatà

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14 February 2020

Vincenzo Bonifati

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14 February 2020

publication date

21 September 2010

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14 February 2020

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14 February 2020

volume

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14 February 2020

issue

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14 February 2020

page(s)

33-39

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Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.

14 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029807

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

7 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029807

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029807

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029807

Genome-wide linkage analysis of a Parkinsonian-pyramidal syndrome pedigree by 500 K SNP arrays

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029807

Structure of a conserved dimerization domain within the F-box protein Fbxo7 and the PI31 proteasome inhibitor

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029807

ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029807

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029807

The F-box protein Fbxo7 interacts with human inhibitor of apoptosis protein cIAP1 and promotes cIAP1 ubiquitination

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029807

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

7 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029807

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

7 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029807

Impaired degradation of mutant alpha-synuclein by chaperone-mediated autophagy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029807

Fbx7 functions in the SCF complex regulating Cdk1-cyclin B-phosphorylated hepatoma up-regulated protein (HURP) proteolysis by a proline-rich region

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029807

Crystal structure of the calcium pump of sarcoplasmic reticulum at 2.6 A resolution

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029807

Manganese neurotoxicity: a review of clinical features, imaging and pathology.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029807

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029807

ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation

7 July 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-010-0259-0

Novel ATP13A2 variant associated with Parkinson disease in Taiwan and Singapore

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-010-0259-0

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-010-0259-0

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-010-0259-0

10.1007/S10048-010-0259-0

21 January 2018

Identifiers

DOI

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20853184%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

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14 February 2020

PubMed publication ID

20853184

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