Work

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

Year: 2013

Type: book-chapter

Abstract: 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.

Source: Journal of Molecular Neuroscience

DOI: 10.1007/s12031-013-0085-6

Authors: Nina Jensen, Henrik Daa Schrøder, Eva Kildall Hejbøl, Ernst-Martin Füchtbauer, João Ricardo Mendes de Oliveira, Lene Pedersen

Institutions: Aarhus University, Odense University Hospital, Universidade Federal de Pernambuco, Aarhus University Hospital

Language: English

Topic: Neurological diseases and metabolism

Subfield: Neurology

Field: Neuroscience

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $4,990