Cathelijn E M Aarts, Kate Downes, Arie J Hoogendijk, Evelien G G Sprenkeler, Roel P Gazendam, Rémi Favier, Marie Favier, Anton T J Tool, John L van Hamme, Myrto A Kostadima, Kate Waller, Barbara Zieger, Maaike G J M van Bergen, Saskia M C Langemeijer, Bert A van der Reijden, Hans Janssen, Timo K van den Berg, Robin van Bruggen, Alexander B Meijer, Willem H Ouwehand, Taco W Kuijpers
Gray platelet syndrome (GPS) is an autosomal recessive bleeding disorder characterized by a lack of α-granules in platelets and progressive myelofibrosis. Rare loss-of-function variants in neurobeachin-like 2 (NBEAL2), a member of the family of beige and Chédiak-Higashi (BEACH) genes, are causal of GPS. It is suggested that BEACH domain containing proteins are involved in fusion, fission, and trafficking of vesicles and granules. Studies in knockout mice suggest that NBEAL2 may control the formation and retention of granules in neutrophils...
January 26, 2021: Blood Advances