@article{48ab34d5282c4a978d4602879f9379f1,
title = "NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet γ-granules",
abstract = "Gray platelet syndrome (GPS) is an autosomal recessive bleeding disorder that is characterized by large platelets that lack γ-granules. Here we show that mutations in NBEAL2 (neurobeachin-like 2), which encodes a BEACH/ARM/WD40 domain protein, cause GPS and that megakaryocytes and platelets from individuals with GPS 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.",
author = "Meral Gunay-Aygun and Falik-Zaccai, {Tzipora C.} and Thierry Vilboux and Yifat Zivony-Elboum and Fatma Gumruk and Mualla Cetin and Morad Khayat and Boerkoel, {Cornelius F.} and Nehama Kfir and Yan Huang and Dawn Maynard and Heidi Dorward and Katherine Berger and Robert Kleta and Yair Anikster and Mutlu Arat and Freiberg, {Andrew S.} and Kehrel, {Beate E.} and Kerstin Jurk and Pedro Cruz and Mullikin, {Jim C.} and White, {James G.} and Marjan Huizing and Gahl, {William A.}",
note = "Funding Information: We thank all of our subjects with GPS and their families for their cooperation; the NIH Intramural Sequencing Center for performing the whole-exome sequencing and analysis; A. Nurden for the French patient; I. Bernardini and R. Fisher for technical assistance; H. Edwards, L. Riley, K. Patzel, P. Tanpaiboon, J. Chezar and J. Manaster for DNA sequencing assistance; T. Markello for the SNP array; and I. Maric, S. Gucer and I. Kuzu for assistance with bone marrow slides. This study was supported by the Intramural Research Programs of the National Human Funding Information: Genome Research Institute and the NIH Clinical Center and by the Israeli Ministry of Justice; Izvonot Fund, grants 84/2004, 85/2004 and 9090-25/2007 to T.C.F.-Z.",
year = "2011",
month = aug,
doi = "10.1038/ng.883",
language = "English (US)",
volume = "43",
pages = "732--734",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "Nature Research",
number = "8",
}