Loss of Function of Slc20a2 Associated with Familial Idiopathic Basal Ganglia Calcification in Humans Causes Brain Calcifications in Mice

Familial idiopathic basal ganglia calcification (FIBGC) is a neurodegenerative disorder with neuropsychiatric and motor symptoms. Deleterious mutations in SLC20A2, encoding the type III sodium-dependent phosphate transporter 2 (PiT2), were recently linked to FIBGC in almost 50 % of the families repo...

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Autores principales: Jensen, Nina, Schrøder, Henrik Daa, Hejbøl, Eva Kildall, Füchtbauer, Ernst-Martin, de Oliveira, João Ricardo Mendes, Pedersen, Lene
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2013
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3824575/
https://www.ncbi.nlm.nih.gov/pubmed/23934451
http://dx.doi.org/10.1007/s12031-013-0085-6
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author Jensen, Nina
Schrøder, Henrik Daa
Hejbøl, Eva Kildall
Füchtbauer, Ernst-Martin
de Oliveira, João Ricardo Mendes
Pedersen, Lene
author_facet Jensen, Nina
Schrøder, Henrik Daa
Hejbøl, Eva Kildall
Füchtbauer, Ernst-Martin
de Oliveira, João Ricardo Mendes
Pedersen, Lene
author_sort Jensen, Nina
collection PubMed
description Familial idiopathic basal ganglia calcification (FIBGC) is a neurodegenerative disorder with neuropsychiatric and motor symptoms. Deleterious mutations in SLC20A2, encoding the type III sodium-dependent phosphate transporter 2 (PiT2), were recently linked to FIBGC in almost 50 % of the families reported worldwide. Here, we show that knockout of Slc20a2 in mice causes calcifications in the thalamus, basal ganglia, and cortex, demonstrating that reduced PiT2 expression alone can cause brain calcifications.
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spelling pubmed-38245752013-11-21 Loss of Function of Slc20a2 Associated with Familial Idiopathic Basal Ganglia Calcification in Humans Causes Brain Calcifications in Mice Jensen, Nina Schrøder, Henrik Daa Hejbøl, Eva Kildall Füchtbauer, Ernst-Martin de Oliveira, João Ricardo Mendes Pedersen, Lene J Mol Neurosci Article Familial idiopathic basal ganglia calcification (FIBGC) is a neurodegenerative disorder with neuropsychiatric and motor symptoms. Deleterious mutations in SLC20A2, encoding the type III sodium-dependent phosphate transporter 2 (PiT2), were recently linked to FIBGC in almost 50 % of the families reported worldwide. Here, we show that knockout of Slc20a2 in mice causes calcifications in the thalamus, basal ganglia, and cortex, demonstrating that reduced PiT2 expression alone can cause brain calcifications. Springer US 2013-08-10 2013 /pmc/articles/PMC3824575/ /pubmed/23934451 http://dx.doi.org/10.1007/s12031-013-0085-6 Text en © The Author(s) 2013 https://creativecommons.org/licenses/by-nc/2.0/ Open Access This article is distributed under the terms of the Creative Commons Attribution License which permits any use, distribution, and reproduction in any medium, provided the original author(s) and the source are credited.
spellingShingle Article
Jensen, Nina
Schrøder, Henrik Daa
Hejbøl, Eva Kildall
Füchtbauer, Ernst-Martin
de Oliveira, João Ricardo Mendes
Pedersen, Lene
Loss of Function of Slc20a2 Associated with Familial Idiopathic Basal Ganglia Calcification in Humans Causes Brain Calcifications in Mice
title Loss of Function of Slc20a2 Associated with Familial Idiopathic Basal Ganglia Calcification in Humans Causes Brain Calcifications in Mice
title_full Loss of Function of Slc20a2 Associated with Familial Idiopathic Basal Ganglia Calcification in Humans Causes Brain Calcifications in Mice
title_fullStr Loss of Function of Slc20a2 Associated with Familial Idiopathic Basal Ganglia Calcification in Humans Causes Brain Calcifications in Mice
title_full_unstemmed Loss of Function of Slc20a2 Associated with Familial Idiopathic Basal Ganglia Calcification in Humans Causes Brain Calcifications in Mice
title_short Loss of Function of Slc20a2 Associated with Familial Idiopathic Basal Ganglia Calcification in Humans Causes Brain Calcifications in Mice
title_sort loss of function of slc20a2 associated with familial idiopathic basal ganglia calcification in humans causes brain calcifications in mice
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3824575/
https://www.ncbi.nlm.nih.gov/pubmed/23934451
http://dx.doi.org/10.1007/s12031-013-0085-6
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