Loss of function of Slc20a2 associated with familial idiopathic basal ganglia calcification in humans causes brain calcifications in mice

TY - JOUR

T1 - Loss of function of Slc20a2 associated with familial idiopathic basal ganglia calcification in humans causes brain calcifications in mice

AU - Jensen, Nina

AU - Daa Schrøder, Henrik

AU - Kildall Hejbøl, Eva

AU - Füchtbauer, Ernst-Martin

AU - de Oliveira, João Ricardo Mendes

AU - Pedersen, Lene

PY - 2013/8

Y1 - 2013/8

N2 - 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.

AB - 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.

U2 - 10.1007/s12031-013-0085-6

DO - 10.1007/s12031-013-0085-6

M3 - Journal article

C2 - 23934451

SN - 0895-8696

VL - 51

SP - 994

EP - 999

JO - Journal of Molecular Neuroscience

JF - Journal of Molecular Neuroscience

IS - 3

ER -