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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Bibliographische Detailangaben
Hauptverfasser: Jensen, Nina, Schrøder, Henrik Daa, Hejbøl, Eva Kildall, Füchtbauer, Ernst-Martin, de Oliveira, João Ricardo Mendes, Pedersen, Lene
Format: Artigo
Sprache:Inglês
Veröffentlicht: Springer US 2013
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3824575/
https://ncbi.nlm.nih.gov/pubmed/23934451
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12031-013-0085-6
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