Article
NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules.
Nature genetics - 17 Jul 2011
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
Abstract excerpt
Gray platelet syndrome (GPS) is an autosomal recessive bleeding disorder that is characterized by large platelets that lack α-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...
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