Cargando…
NBEAL2 is mutated in Gray Platelet Syndrome and is required for biogenesis of platelet alpha-granules
Gray Platelet Syndrome (GPS) is an autosomal recessive bleeding disorder with large platelets that lack α-granules. We found that mutations of NBEAL2 (neurobeachin-like 2), encoding a BEACH/ARM/WD40 domain protein, cause GPS. We demonstrated that human megakaryocytes and platelets express a unique c...
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
2011
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3154019/ https://www.ncbi.nlm.nih.gov/pubmed/21765412 http://dx.doi.org/10.1038/ng.883 |
| _version_ | 1782209971551731712 |
|---|---|
| author | Gunay-Aygun, Meral Falik-Zaccai, Tzipora C Vilboux, Thierry Zivony-Elboum, Yifat Gumruk, Fatma Cetin, Mualla Khayat, Morad Boerkoel, Cornelius F Kfir, Nehama Huang, Yan Maynard, Dawn Dorward, Heidi Berger, Katherine Kleta, Robert Anikster, Yair Arat, Mutlu Freiberg, Andrew S Kehrel, Beate E Jurk, Kerstin Cruz, Pedro Mullikin, Jim C White, James G Huizing, Marjan Gahl, William A |
| author_facet | Gunay-Aygun, Meral Falik-Zaccai, Tzipora C Vilboux, Thierry Zivony-Elboum, Yifat Gumruk, Fatma Cetin, Mualla Khayat, Morad Boerkoel, Cornelius F Kfir, Nehama Huang, Yan Maynard, Dawn Dorward, Heidi Berger, Katherine Kleta, Robert Anikster, Yair Arat, Mutlu Freiberg, Andrew S Kehrel, Beate E Jurk, Kerstin Cruz, Pedro Mullikin, Jim C White, James G Huizing, Marjan Gahl, William A |
| author_sort | Gunay-Aygun, Meral |
| collection | PubMed |
| description | Gray Platelet Syndrome (GPS) is an autosomal recessive bleeding disorder with large platelets that lack α-granules. We found that mutations of NBEAL2 (neurobeachin-like 2), encoding a BEACH/ARM/WD40 domain protein, cause GPS. We demonstrated that human megakaryocytes and platelets express a unique combination of NBEAL2 transcripts. Proteomic analysis of sucrose-gradient subcellular fractions of platelets indicated that NBEAL2 localizes to the dense tubular system (endoplasmic reticulum) in platelets. |
| format | Online Article Text |
| id | pubmed-3154019 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2011 |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-31540192012-02-01 NBEAL2 is mutated in Gray Platelet Syndrome and is required for biogenesis of platelet alpha-granules Gunay-Aygun, Meral Falik-Zaccai, Tzipora C Vilboux, Thierry Zivony-Elboum, Yifat Gumruk, Fatma Cetin, Mualla Khayat, Morad Boerkoel, Cornelius F Kfir, Nehama Huang, Yan Maynard, Dawn Dorward, Heidi Berger, Katherine Kleta, Robert Anikster, Yair Arat, Mutlu Freiberg, Andrew S Kehrel, Beate E Jurk, Kerstin Cruz, Pedro Mullikin, Jim C White, James G Huizing, Marjan Gahl, William A Nat Genet Article Gray Platelet Syndrome (GPS) is an autosomal recessive bleeding disorder with large platelets that lack α-granules. We found that mutations of NBEAL2 (neurobeachin-like 2), encoding a BEACH/ARM/WD40 domain protein, cause GPS. We demonstrated that human megakaryocytes and platelets express a unique combination of NBEAL2 transcripts. Proteomic analysis of sucrose-gradient subcellular fractions of platelets indicated that NBEAL2 localizes to the dense tubular system (endoplasmic reticulum) in platelets. 2011-07-17 /pmc/articles/PMC3154019/ /pubmed/21765412 http://dx.doi.org/10.1038/ng.883 Text en Users may view, print, copy, download and 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 Gunay-Aygun, Meral Falik-Zaccai, Tzipora C Vilboux, Thierry Zivony-Elboum, Yifat Gumruk, Fatma Cetin, Mualla Khayat, Morad Boerkoel, Cornelius F Kfir, Nehama Huang, Yan Maynard, Dawn Dorward, Heidi Berger, Katherine Kleta, Robert Anikster, Yair Arat, Mutlu Freiberg, Andrew S Kehrel, Beate E Jurk, Kerstin Cruz, Pedro Mullikin, Jim C White, James G Huizing, Marjan Gahl, William A NBEAL2 is mutated in Gray Platelet Syndrome and is required for biogenesis of platelet alpha-granules |
| title | NBEAL2 is mutated in Gray Platelet Syndrome and is required for biogenesis of platelet alpha-granules |
| title_full | NBEAL2 is mutated in Gray Platelet Syndrome and is required for biogenesis of platelet alpha-granules |
| title_fullStr | NBEAL2 is mutated in Gray Platelet Syndrome and is required for biogenesis of platelet alpha-granules |
| title_full_unstemmed | NBEAL2 is mutated in Gray Platelet Syndrome and is required for biogenesis of platelet alpha-granules |
| title_short | NBEAL2 is mutated in Gray Platelet Syndrome and is required for biogenesis of platelet alpha-granules |
| title_sort | nbeal2 is mutated in gray platelet syndrome and is required for biogenesis of platelet alpha-granules |
| topic | Article |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3154019/ https://www.ncbi.nlm.nih.gov/pubmed/21765412 http://dx.doi.org/10.1038/ng.883 |
| work_keys_str_mv | AT gunayaygunmeral nbeal2ismutatedingrayplateletsyndromeandisrequiredforbiogenesisofplateletalphagranules AT falikzaccaitziporac nbeal2ismutatedingrayplateletsyndromeandisrequiredforbiogenesisofplateletalphagranules AT vilbouxthierry nbeal2ismutatedingrayplateletsyndromeandisrequiredforbiogenesisofplateletalphagranules AT zivonyelboumyifat nbeal2ismutatedingrayplateletsyndromeandisrequiredforbiogenesisofplateletalphagranules AT gumrukfatma nbeal2ismutatedingrayplateletsyndromeandisrequiredforbiogenesisofplateletalphagranules AT cetinmualla nbeal2ismutatedingrayplateletsyndromeandisrequiredforbiogenesisofplateletalphagranules AT khayatmorad nbeal2ismutatedingrayplateletsyndromeandisrequiredforbiogenesisofplateletalphagranules AT boerkoelcorneliusf nbeal2ismutatedingrayplateletsyndromeandisrequiredforbiogenesisofplateletalphagranules AT kfirnehama nbeal2ismutatedingrayplateletsyndromeandisrequiredforbiogenesisofplateletalphagranules AT huangyan nbeal2ismutatedingrayplateletsyndromeandisrequiredforbiogenesisofplateletalphagranules AT maynarddawn nbeal2ismutatedingrayplateletsyndromeandisrequiredforbiogenesisofplateletalphagranules AT dorwardheidi nbeal2ismutatedingrayplateletsyndromeandisrequiredforbiogenesisofplateletalphagranules AT bergerkatherine nbeal2ismutatedingrayplateletsyndromeandisrequiredforbiogenesisofplateletalphagranules AT kletarobert nbeal2ismutatedingrayplateletsyndromeandisrequiredforbiogenesisofplateletalphagranules AT aniksteryair nbeal2ismutatedingrayplateletsyndromeandisrequiredforbiogenesisofplateletalphagranules AT aratmutlu nbeal2ismutatedingrayplateletsyndromeandisrequiredforbiogenesisofplateletalphagranules AT freibergandrews nbeal2ismutatedingrayplateletsyndromeandisrequiredforbiogenesisofplateletalphagranules AT kehrelbeatee nbeal2ismutatedingrayplateletsyndromeandisrequiredforbiogenesisofplateletalphagranules AT jurkkerstin nbeal2ismutatedingrayplateletsyndromeandisrequiredforbiogenesisofplateletalphagranules AT cruzpedro nbeal2ismutatedingrayplateletsyndromeandisrequiredforbiogenesisofplateletalphagranules AT mullikinjimc nbeal2ismutatedingrayplateletsyndromeandisrequiredforbiogenesisofplateletalphagranules AT whitejamesg nbeal2ismutatedingrayplateletsyndromeandisrequiredforbiogenesisofplateletalphagranules AT huizingmarjan nbeal2ismutatedingrayplateletsyndromeandisrequiredforbiogenesisofplateletalphagranules AT gahlwilliama nbeal2ismutatedingrayplateletsyndromeandisrequiredforbiogenesisofplateletalphagranules |