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

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Loss of function of Slc20a2 associated with familial idiopathic basal ganglia calcification in humans causes brain calcifications in mice. / Jensen, Nina; Daa Schrøder, Henrik; Kildall Hejbøl, Eva ; Füchtbauer, Ernst-Martin; de Oliveira, João Ricardo Mendes ; Pedersen, Lene.

In: Journal of Molecular Neuroscience, Vol. 51, No. 3, 08.2013, p. 994-999.

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Author

Jensen, Nina ; Daa Schrøder, Henrik ; Kildall Hejbøl, Eva ; 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. In: Journal of Molecular Neuroscience. 2013 ; Vol. 51, No. 3. pp. 994-999.

Bibtex

@article{625885214c114701bcaf6d63db55cde5,
title = "Loss of function of Slc20a2 associated with familial idiopathic basal ganglia calcification in humans causes brain calcifications in mice",
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.",
author = "Nina Jensen and {Daa Schr{\o}der}, Henrik and {Kildall Hejb{\o}l}, Eva and Ernst-Martin F{\"u}chtbauer and {de Oliveira}, {Jo{\~a}o Ricardo Mendes} and Lene Pedersen",
year = "2013",
month = "8",
doi = "10.1007/s12031-013-0085-6",
language = "English",
volume = "51",
pages = "994--999",
journal = "Journal of Molecular Neuroscience",
issn = "0895-8696",
publisher = "Humana Press, Inc.",
number = "3",

}

RIS

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

VL - 51

SP - 994

EP - 999

JO - Journal of Molecular Neuroscience

JF - Journal of Molecular Neuroscience

SN - 0895-8696

IS - 3

ER -