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

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Keller, AnnikaUppsala universitet,Cancer och vaskulärbiologi (author)

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

Article/chapterEnglish2013

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2013-08-04
Springer Science and Business Media LLC,2013
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LIBRIS-ID:oai:DiVA.org:uu-208063
https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-208063URI
https://doi.org/10.1038/ng.2723DOI
http://kipublications.ki.se/Default.aspx?queryparsed=id:127291533URI

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Language:English
Summary in:English

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Subject category:ref swepub-contenttype
Subject category:art swepub-publicationtype

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These authors jointly directed and contributed equally to this work:Annika Keller, Ana Westenberger, Maria J Sobrido, Christer Betsholtz, Christine Klein & Joao R M Oliveira
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.

Added entries (persons, corporate bodies, meetings, titles ...)

Westenberger, Ana (author)
Sobrido, Maria J. (author)
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 AndaloussiUppsala universitet,Cancer och vaskulärbiologi(Swepub:uu)maaan970 (author)
Raschperger, ElisabethKarolinska Institutet,Uppsala universitet,Cancer och vaskulärbiologi(Swepub:uu)elira449 (author)
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, MartinKarolinska Institutet (author)
Svenningsson, PerKarolinska Institutet (author)
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, ChristerKarolinska Institutet,Uppsala universitet,Cancer och vaskulärbiologi(Swepub:uu)chbet517 (author)
Klein, Christine (author)
Oliveira, Joao R. M. (author)
Uppsala universitetCancer och vaskulärbiologi (creator_code:org_t)

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In:Nature Genetics: Springer Science and Business Media LLC45:9, s. 1077-+1061-40361546-1718

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By the author/editor: Keller, Annika; Westenberger, An ...; Sobrido, Maria J ...; Garcia-Murias, M ...; Domingo, Aloysiu ...; Sears, Renee L.; show more...; Lemos, Roberta R ...; Ordonez-Ugalde, ...; Nicolas, Gael; Gomes da Cunha, ...; Rushing, Elisabe ...; Hugelshofer, Mic ...; Wurnig, Moritz C ...; Kaech, Andres; Reimann, Regina; Lohmann, Katja; Dobricic, Valeri ...; Carracedo, Angel; Petrovic, Igor; Miyasaki, Janis ...; Abakumova, Irina; Mäe, Maarja Anda ...; Raschperger, Eli ...; Zatz, Mayana; Zschiedrich, Kat ...; Klepper, Jorg; Spiteri, Elizabe ...; Prieto, Jose M.; Navas, Inmaculad ...; Preuss, Michael; Dering, Carmen; Jankovic, Milena; Paucar, Martin; Svenningsson, Pe ...; Saliminejad, Kio ...; Khorshid, Hamid ...; Novakovic, Ivana; Aguzzi, Adriano; Boss, Andreas; Le Ber, Isabelle; Defer, Gilles; Hannequin, Didie ...; Kostic, Vladimir ...; Campion, Dominiq ...; Geschwind, Danie ...; Coppola, Giovann ...; Betsholtz, Chris ...; Klein, Christine; Oliveira, Joao R ...; show less...

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