Loss of function of Slc20a2 associated with familial idiopathic Basal Ganglia calcification in humans causes brain calcifications in mice

N. Jensen, H. D. Schroder, E. K. Hejbol, E. M. Fuchtbauer, J. R. M. de Oliveira, L. Pedersen

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Resumé

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.

OriginalsprogEngelsk
TidsskriftJournal of Molecular Neuroscience
Vol/bind51
Udgave nummer3
Sider (fra-til)994-999
Antal sider6
ISSN0895-8696
DOI
StatusUdgivet - nov. 2013

Fingeraftryk

Neurodegenerative Diseases
Mutation

Citer dette

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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.",
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author = "N. Jensen and Schroder, {H. D.} and Hejbol, {E. K.} and Fuchtbauer, {E. M.} and {de Oliveira}, {J. R. M.} and L. Pedersen",
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Loss of function of Slc20a2 associated with familial idiopathic Basal Ganglia calcification in humans causes brain calcifications in mice. / Jensen, N.; Schroder, H. D.; Hejbol, E. K.; Fuchtbauer, E. M.; de Oliveira, J. R. M.; Pedersen, L.

I: Journal of Molecular Neuroscience, Bind 51, Nr. 3, 11.2013, s. 994-999.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

TY - JOUR

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

AU - Jensen, N.

AU - Schroder, H. D.

AU - Hejbol, E. K.

AU - Fuchtbauer, E. M.

AU - de Oliveira, J. R. M.

AU - Pedersen, L.

PY - 2013/11

Y1 - 2013/11

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.

KW - SLC20A2 Brain calcification Phosphate transporter PiT2 MUSCLE-CELL CALCIFICATION CHRONIC KIDNEY-DISEASE PHOSPHATE-TRANSPORT MUTATIONS GENE PIT1 METABOLISM

U2 - 10.1007/s12031-013-0085-6

DO - 10.1007/s12031-013-0085-6

M3 - Journal article

VL - 51

SP - 994

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JO - Journal of Molecular Neuroscience

JF - Journal of Molecular Neuroscience

SN - 0895-8696

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