Ontology highlight
ABSTRACT:
SUBMITTER: Hurtado B
PROVIDER: S-EPMC6264735 | biostudies-literature | 2018 Dec
REPOSITORIES: biostudies-literature
Hurtado Begoña B Trakala Marianna M Ximénez-Embún Pilar P El Bakkali Aicha A Partida David D Sanz-Castillo Belén B Álvarez-Fernández Mónica M Maroto María M Sánchez-Martínez Ruth R Martínez Lola L Muñoz Javier J García de Frutos Pablo P Malumbres Marcos M
The Journal of clinical investigation 20181029 12
MASTL, a Ser/Thr kinase that inhibits PP2A-B55 complexes during mitosis, is mutated in autosomal dominant thrombocytopenia. However, the connections between the cell-cycle machinery and this human disease remain unexplored. We report here that, whereas Mastl ablation in megakaryocytes prevented proper maturation of these cells, mice carrying the thrombocytopenia-associated mutation developed thrombocytopenia as a consequence of aberrant activation and survival of platelets. Activation of mutant ...[more]