The multifaceted PDCD10/CCM3 gene  

作　　者：Mariaelena Valentino Elisabetta Dejana Matteo Malinverno 

机构地区：[1]The FIRC Institute of Molecular Oncology(IFOM),Milan,1620139,Italy [2]Department of Oncology and Haemato-Oncology,University of Milan,Milan,720122,Italy [3]Vascular Biology,Department of Immunology,Genetics and Pathology,Uppsala University,Uppsala,SE-75105,Sweden

出　　处：《Genes & Diseases》2021年第6期798-813,共16页基因与疾病（英文）

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.

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.

关 键 词：CANCER Cell signaling CELL-CYCLE Neurovascular unit PDCD10/CCM3 

分 类 号：R742[医药卫生—神经病学与精神病学]