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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Detalles Bibliográficos
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
Descripción
Sumario: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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