(Q42009051)

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Primary Brain Calcification Causal PiT2 Transport-Knockout Variants can Exert Dominant Negative Effects on Wild-Type PiT2 Transport Function in Mammalian Cells.

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29 March 2020

Primary Brain Calcification Causal PiT2 Transport-Knockout Variants can Exert Dominant Negative Effects on Wild-Type PiT2 Transport Function in Mammalian Cells (English)

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27943094%20AND%20SRC:MED&resulttype=core&format=json

29 March 2020

cerebral calcification

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Frederik Tibert Larsen

1

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29 March 2020

2

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29 March 2020

5

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29 March 2020

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Jacob Kwasi Autzen

3

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29 March 2020

Iben Boutrup Kongsfelt

4

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29 March 2020

publication date

9 December 2016

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29 March 2020

Journal of Molecular Neuroscience

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29 March 2020

61

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29 March 2020

2

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Europe PubMed Central

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29 March 2020

215-220

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29 March 2020

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Creative Commons Attribution 4.0 International

9 December 2016

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April 2022 Public Data File from Crossref

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0 references

SLC20A2 Deficiency in Mice Leads to Elevated Phosphate Levels in Cerbrospinal Fluid and Glymphatic Pathway-Associated Arteriolar Calcification, and Recapitulates Human Idiopathic Basal Ganglia Calcification.

1 reference

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5 June 2018

Slc20a2 is critical for maintaining a physiologic inorganic phosphate level in cerebrospinal fluid.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5321689

5 June 2018

Familial idiopathic basal ganglia calcification: Histopathologic features of an autopsied patient with an SLC20A2 mutation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5321689

5 June 2018

Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5321689

5 June 2018

Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5321689

5 June 2018

The genetics of primary familial brain calcifications.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5321689

5 June 2018

Active removal of inorganic phosphate from cerebrospinal fluid by the choroid plexus.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5321689

5 June 2018

Loss of function of Slc20a2 associated with familial idiopathic Basal Ganglia calcification in humans causes brain calcifications in mice.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5321689

5 June 2018

Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5321689

5 June 2018

Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5321689

5 June 2018

Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5321689

5 June 2018

Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5321689

5 June 2018

Mapping of the minimal inorganic phosphate transporting unit of human PiT2 suggests a structure universal to PiT-related proteins from all kingdoms of life

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5321689

5 June 2018

Familial idiopathic basal ganglia calcification: a challenging clinical-pathological correlation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5321689

5 June 2018

Characterization of transport mechanisms and determinants critical for Na+-dependent Pi symport of the PiT family paralogs human PiT1 and PiT2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5321689

5 June 2018

Evolutionary and experimental analyses of inorganic phosphate transporter PiT family reveals two related signature sequences harboring highly conserved aspartic acids critical for sodium-dependent phosphate transport function of human PiT2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5321689

5 June 2018

Severe vascular disturbance in a case of familial brain calcinosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5321689

5 June 2018

Two highly conserved glutamate residues critical for type III sodium-dependent phosphate transport revealed by uncoupling transport function from retroviral receptor function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5321689

5 June 2018

Pit2 assemblies at the cell surface are modulated by extracellular inorganic phosphate concentration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5321689

5 June 2018

Bilateral striopallidodentate calcinosis: clinical characteristics of patients seen in a registry

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5321689

5 June 2018

The use of Xenopus laevis oocytes for the functional characterization of heterologously expressed membrane proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5321689

5 June 2018

RNA levels of human retrovirus receptors Pit1 and Pit2 do not correlate with infectibility by three retroviral vector pseudotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5321689

5 June 2018

Identification and characterization of a widely expressed phosphate transporter/retrovirus receptor family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5321689

5 June 2018

A human amphotropic retrovirus receptor is a second member of the gibbon ape leukemia virus receptor family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5321689

5 June 2018

Cell-surface receptors for gibbon ape leukemia virus and amphotropic murine retrovirus are inducible sodium-dependent phosphate symporters

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5321689

5 June 2018

A family of retroviruses that utilize related phosphate transporters for cell entry

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5321689

5 June 2018

Chimeras of receptors for gibbon ape leukemia virus/feline leukemia virus B and amphotropic murine leukemia virus reveal different modes of receptor recognition by retrovirus.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5321689

5 June 2018

Novel mutation of SLC20A2 in a Chinese family with primary familial brain calcification

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5321689

17 August 2018

Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5321689

17 August 2018

Primary familial brain calcification: Genetic analysis and clinical spectrum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5321689

17 August 2018

First report of a de novo mutation at SLC20A2 in a patient with brain calcification

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5321689

17 August 2018

Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5321689

17 August 2018

Novel SLC20A2 mutations identified in southern Chinese patients with idiopathic basal ganglia calcification

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5321689

17 August 2018

Isolation and characterization of the Xenopus oocyte plasma membrane: a new method for studying activity of water and solute transporters

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5321689

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Transport-deficient Pit2 phosphate transporters still modify cell surface oligomers structure in response to inorganic phosphate

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5321689

17 August 2018

Cloning and characterization of a type III Na-dependent phosphate cotransporter from mouse intestine.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5321689

17 August 2018

Evaluation of SLC20A2 mutations that cause idiopathic basal ganglia calcification in Japan

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https://api.crossref.org/works/10.1007%2FS12031-016-0868-7

21 January 2018

Reporting a new mutation at the SLC20A2 gene in familial idiopathic basal ganglia calcification

1 reference

https://pubmed.ncbi.nlm.nih.gov/27943094

12 December 2020

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10.1007/S12031-016-0868-7

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27943094%20AND%20SRC:MED&resulttype=core&format=json

29 March 2020

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Europe PubMed Central

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29 March 2020

PubMed publication ID

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Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27943094%20AND%20SRC:MED&resulttype=core&format=json

29 March 2020

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