摘要
The programmed cell death 10(PDCD10)gene was originally identified as an apoptosis-related gene,although it is now usually known as CCM3,as the third causative gene of cerebral cavernous malformation(CCM).CCM is a neurovascular disease that is characterized by vascular malformations and is associated with headaches,seizures,focal neurological deficits,and cerebral hemorrhage.The PDCD10/CCM3 protein has multiple subcellular localizations and interacts with several multi-protein complexes and signaling pathways.Thus PDCD10/CCM3 governs many cellular functions,which include cell-to-cell junctions and cytoskeleton organization,cell proliferation and apoptosis,and exocytosis and angiogenesis.Given its central role in the maintenance of homeostasis of the cell,dysregulation of PDCD10/CCM3 can result in a wide range of altered cell functions.This can lead to severe diseases,including CCM,cognitive disability,and several types of cancers.Here,we review the multifaceted roles of PDCD10/CCM3 in physiology and pathology,with a focus on its functions beyond CCM.
基金
The lab of ED is supported by:The Swedish Research Council(contract No.2013-9279),the Knut and Alice Wallenberg Foundation(contract No.2015-0030),the European Research Council(project EC-ERC-VEPC,contract 74292),Associazione Italiana per la Ricerca sul Cancro(AIRC IG 23223),AIRC 5x1000 call"Metastatic disease:the key unmet need in oncology"to the MYNERVA Project(MYeloid NEoplasms Research Venture AIRC 21267),Telethon(New insight on the pathogenesis of hereditary Cerebral Cavernous Malformation,contract GGP19202)
AIFA(a multicellular randomized clinical trial on propranolol in familial Cerebral Cavernous Malformation,contract AIFA-2016-02364593).Be Brave for Life Foundation Micro Grant 2019.
