Macrothrombocytopenia of Takenouchi-Kosaki syndrome is ameliorated by CDC42 specific- and lipidation inhibitors in MEG-01 cells

Abstract Macrothrombocytopenia is a common pathology of missense mutations in genes regulating actin dynamics. Takenouchi-Kosaki syndrome (TKS) harboring the c.191A > G, Tyr64Cys (Y64C) variant in Cdc42 exhibits a variety of clinical manifestations, including immunological and hematological anoma...

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Bibliographic Details
Main Authors: Etsuko Daimon, Yukinao Shibukawa, Suganya Thanasegaran, Natsuko Yamazaki, Nobuhiko Okamoto
Format: Article
Language:English
Published: Nature Publishing Group 2021-09-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-021-97478-y