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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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Chongqing Medical University
2020
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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. |
format | Online Article Text |
id | pubmed-8427250 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Chongqing Medical University |
record_format | MEDLINE/PubMed |
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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