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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Format: | Article |
Language: | English |
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KeAi Communications Co., Ltd.
2021-11-01
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Series: | Genes and Diseases |
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Online Access: | http://www.sciencedirect.com/science/article/pii/S2352304220301653 |
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author | Mariaelena Valentino Elisabetta Dejana Matteo Malinverno |
author_facet | Mariaelena Valentino Elisabetta Dejana Matteo Malinverno |
author_sort | Mariaelena Valentino |
collection | DOAJ |
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. |
first_indexed | 2024-03-12T10:17:29Z |
format | Article |
id | doaj.art-353f00b2bf8c4b7896e68377e8166619 |
institution | Directory Open Access Journal |
issn | 2352-3042 |
language | English |
last_indexed | 2024-03-12T10:17:29Z |
publishDate | 2021-11-01 |
publisher | KeAi Communications Co., Ltd. |
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series | Genes and Diseases |
spelling | doaj.art-353f00b2bf8c4b7896e68377e81666192023-09-02T10:23:56ZengKeAi Communications Co., Ltd.Genes and Diseases2352-30422021-11-0186798813The multifaceted PDCD10/CCM3 geneMariaelena Valentino0Elisabetta Dejana1Matteo Malinverno2The FIRC Institute of Molecular Oncology (IFOM), Milan, 16 20139, ItalyThe FIRC Institute of Molecular Oncology (IFOM), Milan, 16 20139, Italy; Department of Oncology and Haemato-Oncology, University of Milan, Milan, 7 20122, Italy; Vascular Biology, Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, SE-751 05, SwedenThe FIRC Institute of Molecular Oncology (IFOM), Milan, 16 20139, Italy; Corresponding author. Via Adamello, Milan, 16 20139, Italy.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.http://www.sciencedirect.com/science/article/pii/S2352304220301653CancerCell signalingCell-cycleNeurovascular unitPDCD10/CCM3 |
spellingShingle | Mariaelena Valentino Elisabetta Dejana Matteo Malinverno The multifaceted PDCD10/CCM3 gene Genes and Diseases Cancer Cell signaling Cell-cycle Neurovascular unit PDCD10/CCM3 |
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 | Cancer Cell signaling Cell-cycle Neurovascular unit PDCD10/CCM3 |
url | http://www.sciencedirect.com/science/article/pii/S2352304220301653 |
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