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Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export
Primary familial brain calcification (PFBC) is a neurological disease characterized by calcium phosphate deposits in the basal ganglia and other brain regions, thus far associated with SLC20A2, PDGFB, or PDGFRB mutations. We identified in multiple PFBC families mutations in XPR1, a gene encoding a r...
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
2015
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4516721/ https://www.ncbi.nlm.nih.gov/pubmed/25938945 http://dx.doi.org/10.1038/ng.3289 |
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| author | Legati, Andrea Giovannini, Donatella Nicolas, Gaël López-Sánchez, Uriel Quintáns, Beatriz Oliveira, João Sears, Renee L. Marisa Ramos, Eliana Spiteri, Elizabeth Sobrido, María-Jesús Carracedo, Ángel Castro-Fernández, Cristina Cubizolle, Stéphanie Fogel, Brent L. Goizet, Cyril Jen, Joanna C. Kirdlarp, Suppachok Lang, Anthony E. Miedzybrodzka, Zosia Mitarnun, Witoon Paucar, Martin Paulson, Henry Pariente, Jérémie Richard, Anne-Claire Salins, Naomi S. Simpson, Sheila A. Striano, Pasquale Svenningsson, Per Tison, François Unni, Vivek K. Vanakker, Olivier Wessels, Marja W. Wetchaphanphesat, Suppachok Yang, Michele Boller, Francois Campion, Dominique Hannequin, Didier Sitbon, Marc Geschwind, Daniel H. Battini, Jean-Luc Coppola, Giovanni |
| author_facet | Legati, Andrea Giovannini, Donatella Nicolas, Gaël López-Sánchez, Uriel Quintáns, Beatriz Oliveira, João Sears, Renee L. Marisa Ramos, Eliana Spiteri, Elizabeth Sobrido, María-Jesús Carracedo, Ángel Castro-Fernández, Cristina Cubizolle, Stéphanie Fogel, Brent L. Goizet, Cyril Jen, Joanna C. Kirdlarp, Suppachok Lang, Anthony E. Miedzybrodzka, Zosia Mitarnun, Witoon Paucar, Martin Paulson, Henry Pariente, Jérémie Richard, Anne-Claire Salins, Naomi S. Simpson, Sheila A. Striano, Pasquale Svenningsson, Per Tison, François Unni, Vivek K. Vanakker, Olivier Wessels, Marja W. Wetchaphanphesat, Suppachok Yang, Michele Boller, Francois Campion, Dominique Hannequin, Didier Sitbon, Marc Geschwind, Daniel H. Battini, Jean-Luc Coppola, Giovanni |
| author_sort | Legati, Andrea |
| collection | PubMed |
| description | Primary familial brain calcification (PFBC) is a neurological disease characterized by calcium phosphate deposits in the basal ganglia and other brain regions, thus far associated with SLC20A2, PDGFB, or PDGFRB mutations. We identified in multiple PFBC families mutations in XPR1, a gene encoding a retroviral receptor with phosphate export function. These mutations alter phosphate export, providing a direct evidence of an impact of XPR1 and phosphate homeostasis in PFBC. |
| format | Online Article Text |
| id | pubmed-4516721 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2015 |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-45167212015-12-01 Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export Legati, Andrea Giovannini, Donatella Nicolas, Gaël López-Sánchez, Uriel Quintáns, Beatriz Oliveira, João Sears, Renee L. Marisa Ramos, Eliana Spiteri, Elizabeth Sobrido, María-Jesús Carracedo, Ángel Castro-Fernández, Cristina Cubizolle, Stéphanie Fogel, Brent L. Goizet, Cyril Jen, Joanna C. Kirdlarp, Suppachok Lang, Anthony E. Miedzybrodzka, Zosia Mitarnun, Witoon Paucar, Martin Paulson, Henry Pariente, Jérémie Richard, Anne-Claire Salins, Naomi S. Simpson, Sheila A. Striano, Pasquale Svenningsson, Per Tison, François Unni, Vivek K. Vanakker, Olivier Wessels, Marja W. Wetchaphanphesat, Suppachok Yang, Michele Boller, Francois Campion, Dominique Hannequin, Didier Sitbon, Marc Geschwind, Daniel H. Battini, Jean-Luc Coppola, Giovanni Nat Genet Article Primary familial brain calcification (PFBC) is a neurological disease characterized by calcium phosphate deposits in the basal ganglia and other brain regions, thus far associated with SLC20A2, PDGFB, or PDGFRB mutations. We identified in multiple PFBC families mutations in XPR1, a gene encoding a retroviral receptor with phosphate export function. These mutations alter phosphate export, providing a direct evidence of an impact of XPR1 and phosphate homeostasis in PFBC. 2015-05-04 2015-06 /pmc/articles/PMC4516721/ /pubmed/25938945 http://dx.doi.org/10.1038/ng.3289 Text en http://www.nature.com/authors/editorial_policies/license.html#terms Users may view, print, copy, and download text and data-mine the content in such documents, for the purposes of academic research, subject always to the full Conditions of use:http://www.nature.com/authors/editorial_policies/license.html#terms |
| spellingShingle | Article Legati, Andrea Giovannini, Donatella Nicolas, Gaël López-Sánchez, Uriel Quintáns, Beatriz Oliveira, João Sears, Renee L. Marisa Ramos, Eliana Spiteri, Elizabeth Sobrido, María-Jesús Carracedo, Ángel Castro-Fernández, Cristina Cubizolle, Stéphanie Fogel, Brent L. Goizet, Cyril Jen, Joanna C. Kirdlarp, Suppachok Lang, Anthony E. Miedzybrodzka, Zosia Mitarnun, Witoon Paucar, Martin Paulson, Henry Pariente, Jérémie Richard, Anne-Claire Salins, Naomi S. Simpson, Sheila A. Striano, Pasquale Svenningsson, Per Tison, François Unni, Vivek K. Vanakker, Olivier Wessels, Marja W. Wetchaphanphesat, Suppachok Yang, Michele Boller, Francois Campion, Dominique Hannequin, Didier Sitbon, Marc Geschwind, Daniel H. Battini, Jean-Luc Coppola, Giovanni Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export |
| title | Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export |
| title_full | Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export |
| title_fullStr | Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export |
| title_full_unstemmed | Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export |
| title_short | Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export |
| title_sort | mutations in xpr1 cause primary familial brain calcification associated with altered phosphate export |
| topic | Article |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4516721/ https://www.ncbi.nlm.nih.gov/pubmed/25938945 http://dx.doi.org/10.1038/ng.3289 |
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