NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet alpha-granules

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Gunay-Aygun M., Falik-Zaccai T. C., Vilboux T., Zivony-Elboum Y., Gumruk F., Cetin M., ...Daha Fazla

NATURE GENETICS, cilt.43, sa.8, ss.732-734, 2011 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 43 Sayı: 8
  • Basım Tarihi: 2011
  • Doi Numarası: 10.1038/ng.883
  • Dergi Adı: NATURE GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.732-734
  • Hacettepe Üniversitesi Adresli: Evet

Özet

Gray platelet syndrome (GPS) is an autosomal recessive bleeding disorder that is characterized by large platelets that lack alpha-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.