학술논문
NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet ?-granules.
Document Type
Article
Author
Gunay-Aygun, Meral; Falik-Zaccai, Tzipora C; Vilboux, Thierry; Zivony-Elboum, Yifat; Gumruk, Fatma; Cetin, Mualla; Khayat, Morad; Boerkoel, Cornelius F; Kfir, Nehama; Yan Huang; Maynard, Dawn; Dorward, Heidi; Berger, Katherine; Kleta, Robert; Anikster, Yair; Arat, Mutlu; Freiberg, Andrew S.; Kehrel, Beate E.; Jurk, Kerstin; Cruz, Pedro
Source
Subject
*GRAY platelet syndrome
*PROTEOMICS
*ENDOPLASMIC reticulum
*BLOOD platelets
*ORGANELLE formation
*SUBCELLULAR fractionation
*PHYSIOLOGY
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Language
ISSN
1061-4036
Abstract
Gray platelet syndrome (GPS) is an autosomal recessive bleeding disorder that is characterized by large platelets that lack ?-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. [ABSTRACT FROM AUTHOR]