期刊
NATURE GENETICS
卷 45, 期 9, 页码 1077-+出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.2723
关键词
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资金
- Swiss National Science Foundation
- Fritz Thyssen Foundation
- Bachmann-Strauss Dystonia & Parkinson Foundation
- Habilitation Fellowship for Women Researchers [E26-2011]
- University of Lubeck, Germany
- Xunta de Galicia, Conseller a de Innovacion [10PXIB9101280PR]
- European Regional Development (FEDER)
- Institute of Health Carlos III
- John Simon Guggenheim Memorial Foundation
- Conselho Nacional de Desenvolvimento Cientifico e Tecnologico (CNPq)
- Fundacao de Amparo a Cienta e Tecnologia do Estado de Pernamnbuco (FACEPE)
- Coordenacao de Aperfeicoamento de Pessoal de Nivel Superior (CAPES)
- Centre National de Reference pour les Malades Alzheimer Jeunes (CNR-MAJ)
- French Ministry of Health
- Rouen University Hospital
- Swiss National Science Foundation [310030_144075/1SNR]
- micro-CT unit (R'Equipe grant) [3106030_139258/1]
- German Research Foundation (DFG)
- Serbian Ministry of Education and Science [175090]
- FAPESP/389 CEPID (State of Sao Paulo Research Foundation)
- CNPq (Instituto Nacional de Ciencia e Tecnologia de Celulas Tronco em Doencas Geneticas Humanas))
- University of Lubeck [E30/2011]
- European Research Council
- European Union
- Foundation Alliance BioSecure
- University of Zurich
- Novartis Research Foundation
- US National Institutes of Health/National Institute of Neurological Disorders and Stroke (NIH/NINDS) [R01 NS040752]
- Uppsala University
- Knut and Alice Wallenberg Foundation
- Torsten and Ragnar Soderberg Foundation
- IngaBritt and Arne Lundberg Foundation
- Swedish Research Council
- Swedish Cancer Society
- Karolinska Institutet
- Hermann and Lilly Schilling Foundation
- Swiss National Science Foundation (SNF) [310030_144075] Funding Source: Swiss National Science Foundation (SNF)
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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