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Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice

Keller, Annika (author)
Uppsala universitet,Cancer och vaskulärbiologi
Westenberger, Ana (author)
Sobrido, Maria J. (author)
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Garcia-Murias, Maria (author)
Domingo, Aloysius (author)
Sears, Renee L. (author)
Lemos, Roberta R. (author)
Ordonez-Ugalde, Andres (author)
Nicolas, Gael (author)
Gomes da Cunha, Jose E. (author)
Rushing, Elisabeth J. (author)
Hugelshofer, Michael (author)
Wurnig, Moritz C. (author)
Kaech, Andres (author)
Reimann, Regina (author)
Lohmann, Katja (author)
Dobricic, Valerija (author)
Carracedo, Angel (author)
Petrovic, Igor (author)
Miyasaki, Janis M. (author)
Abakumova, Irina (author)
Mäe, Maarja Andaloussi (author)
Uppsala universitet,Cancer och vaskulärbiologi
Raschperger, Elisabeth (author)
Karolinska Institutet,Uppsala universitet,Cancer och vaskulärbiologi
Zatz, Mayana (author)
Zschiedrich, Katja (author)
Klepper, Jorg (author)
Spiteri, Elizabeth (author)
Prieto, Jose M. (author)
Navas, Inmaculada (author)
Preuss, Michael (author)
Dering, Carmen (author)
Jankovic, Milena (author)
Paucar, Martin (author)
Karolinska Institutet
Svenningsson, Per (author)
Karolinska Institutet
Saliminejad, Kioomars (author)
Khorshid, Hamid R. K. (author)
Novakovic, Ivana (author)
Aguzzi, Adriano (author)
Boss, Andreas (author)
Le Ber, Isabelle (author)
Defer, Gilles (author)
Hannequin, Didier (author)
Kostic, Vladimir S. (author)
Campion, Dominique (author)
Geschwind, Daniel H. (author)
Coppola, Giovanni (author)
Betsholtz, Christer (author)
Karolinska Institutet,Uppsala universitet,Cancer och vaskulärbiologi
Klein, Christine (author)
Oliveira, Joao R. M. (author)
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 (creator_code:org_t)
2013-08-04
2013
English.
In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 45:9, s. 1077-
Related links:
https://urn.kb.se/re...
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https://doi.org/10.1...
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  • Journal article (peer-reviewed)
Abstract Subject headings
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  • Calcifications in the basal ganglia are a common incidental finding and are sometimes inherited as an autosomal dominant trait ( idiopathic basal ganglia calcification (IBGC)). Recently, mutations in the PDGFRB gene coding for the platelet-derived growth factor receptor beta (PDGF-R beta) were linked to IBGC. Here we identify six families of different ancestry with nonsense and missense mutations in the gene encoding PDGF-B, the main ligand for PDGF-R beta. We also show that mice carrying hypomorphic Pdgfb alleles develop brain calcifications that show age-related expansion. The occurrence of these calcium depositions depends on the loss of endothelial PDGF-B and correlates with the degree of pericyte and blood-brain barrier deficiency. Thus, our data present a clear link between Pdgfb mutations and brain calcifications in mice, as well as between PDGFB mutations and IBGC in humans.

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