The multifaceted PDCD10/CCM3 gene

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 ass...

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Autores principales: Valentino, Mariaelena, Dejana, Elisabetta, Malinverno, Matteo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Chongqing Medical University 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8427250/
https://www.ncbi.nlm.nih.gov/pubmed/34522709
http://dx.doi.org/10.1016/j.gendis.2020.12.008
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author Valentino, Mariaelena
Dejana, Elisabetta
Malinverno, Matteo
author_facet Valentino, Mariaelena
Dejana, Elisabetta
Malinverno, Matteo
author_sort Valentino, Mariaelena
collection PubMed
description 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.
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spelling pubmed-84272502021-09-13 The multifaceted PDCD10/CCM3 gene Valentino, Mariaelena Dejana, Elisabetta Malinverno, Matteo Genes Dis Review Article 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. Chongqing Medical University 2020-12-30 /pmc/articles/PMC8427250/ /pubmed/34522709 http://dx.doi.org/10.1016/j.gendis.2020.12.008 Text en © 2021 Chongqing Medical University. Production and hosting by Elsevier B.V. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Review Article
Valentino, Mariaelena
Dejana, Elisabetta
Malinverno, Matteo
The multifaceted PDCD10/CCM3 gene
title The multifaceted PDCD10/CCM3 gene
title_full The multifaceted PDCD10/CCM3 gene
title_fullStr The multifaceted PDCD10/CCM3 gene
title_full_unstemmed The multifaceted PDCD10/CCM3 gene
title_short The multifaceted PDCD10/CCM3 gene
title_sort multifaceted pdcd10/ccm3 gene
topic Review Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8427250/
https://www.ncbi.nlm.nih.gov/pubmed/34522709
http://dx.doi.org/10.1016/j.gendis.2020.12.008
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