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

M Gunay-Aygun, TC Falik-Zaccai, T Vilboux… - Nature …, 2011 - nature.com
M Gunay-Aygun, TC Falik-Zaccai, T Vilboux, Y Zivony-Elboum, F Gumruk, M Cetin, M Khayat…
Nature genetics, 2011nature.com
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
subcellular fractions of platelets indicated that NBEAL2 localizes to the dense tubular system …
Abstract
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 subcellular fractions of platelets indicated that NBEAL2 localizes to the dense tubular system (endoplasmic reticulum) in platelets.
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