PDCD10

Summary

Gene Symbol: PDCD10
Description: programmed cell death 10
Alias: CCM3, TFAR15, programmed cell death protein 10, TF-1 cell apoptosis-related protein 15, apoptosis-related protein 15, cerebral cavernous malformations 3 protein
Species: human
Products:     PDCD10

Top Publications

  1. Guclu B, Ozturk A, Pricola K, Seker A, Ozek M, Gunel M. Cerebral venous malformations have distinct genetic origin from cerebral cavernous malformations. Stroke. 2005;36:2479-80 pubmed
    ..We have performed mutational analysis in all 3 CCM genes, KRIT1, Malcavernin, and PDCD10, to identify the causative gene in the family...
  2. Guclu B, Ozturk A, Pricola K, Bilguvar K, Shin D, O Roak B, et al. Mutations in apoptosis-related gene, PDCD10, cause cerebral cavernous malformation 3. Neurosurgery. 2005;57:1008-13 pubmed
    ..A recent study by Bergametti et al. established Programmed Cell Death 10 (PDCD10) as the gene responsible for CCM3...
  3. Li X, Ji W, Zhang R, Folta Stogniew E, Min W, Boggon T. Molecular recognition of leucine-aspartate repeat (LD) motifs by the focal adhesion targeting homology domain of cerebral cavernous malformation 3 (CCM3). J Biol Chem. 2011;286:26138-47 pubmed publisher
    ..1 and 0.5% of the human population, with mutations in CCM3 accounting for ~ 15% of the autosomal dominant form of the disease...
  4. Liquori C, Berg M, Squitieri F, Ottenbacher M, Sorlie M, Leedom T, et al. Low frequency of PDCD10 mutations in a panel of CCM3 probands: potential for a fourth CCM locus. Hum Mutat. 2006;27:118 pubmed
    ..Krit1 are responsible for CCM1, mutations in the gene MGC4607 are responsible for CCM2, and mutations in the gene PDCD10 were recently reported to be responsible for CCM3...
  5. Akers A, Johnson E, Steinberg G, Zabramski J, Marchuk D. Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis. Hum Mol Genet. 2009;18:919-30 pubmed publisher
    ..follow autosomal-dominant inheritance due to mutations in one of three genes, CCM1/KRIT1, CCM2/malcavernin or CCM3/PDCD10. The difference in lesion burden between familial and sporadic CCM, combined with limited molecular data, suggests ..
  6. Pagenstecher A, Stahl S, Sure U, Felbor U. A two-hit mechanism causes cerebral cavernous malformations: complete inactivation of CCM1, CCM2 or CCM3 in affected endothelial cells. Hum Mol Genet. 2009;18:911-8 pubmed publisher
    ..cerebral cavernous malformations (CCMs) have been associated with germline mutations in CCM1/KRIT1, CCM2 or CCM3/PDCD10. For each of the three CCM genes, we here show complete localized loss of either CCM1, CCM2 or CCM3 protein ..
  7. Chen L, Tanriover G, Yano H, Friedlander R, Louvi A, Gunel M. Apoptotic functions of PDCD10/CCM3, the gene mutated in cerebral cavernous malformation 3. Stroke. 2009;40:1474-81 pubmed publisher
    Mutations in the Programmed Cell Death 10 (PDCD10) gene cause autosomal dominant familial cerebral cavernous malformations (CCM3). To date, little is known about the function of this gene and its role in disease pathogenesis...
  8. Fidalgo M, Fraile M, Pires A, Force T, Pombo C, Zalvide J. CCM3/PDCD10 stabilizes GCKIII proteins to promote Golgi assembly and cell orientation. J Cell Sci. 2010;123:1274-84 pubmed publisher
    Mutations in CCM3/PDCD10 result in cerebral cavernous malformations (CCMs), a major cause of cerebral hemorrhage. Despite intense interest in CCMs, very little is known about the function of CCM3...
  9. Ceccarelli D, Laister R, Mulligan V, Kean M, Goudreault M, Scott I, et al. CCM3/PDCD10 heterodimerizes with germinal center kinase III (GCKIII) proteins using a mechanism analogous to CCM3 homodimerization. J Biol Chem. 2011;286:25056-64 pubmed publisher
    b>CCM3 mutations give rise to cerebral cavernous malformations (CCMs) of the vasculature through a mechanism that remains unclear...

More Information

Publications105 found, 100 shown here

  1. You C, Sandalcioglu I, Dammann P, Felbor U, Sure U, Zhu Y. Loss of CCM3 impairs DLL4-Notch signalling: implication in endothelial angiogenesis and in inherited cerebral cavernous malformations. J Cell Mol Med. 2013;17:407-18 pubmed publisher
    CCM3, a product of the cerebral cavernous malformation 3 or programmed cell death 10 gene (CCM3/PDCD10), is broadly expressed throughout development in both vertebrates and invertebrates...
  2. Chen P, Chang W, Chou R, Lai Y, Lin S, Chi C, et al. Two non-homologous brain diseases-related genes, SERPINI1 and PDCD10, are tightly linked by an asymmetric bidirectional promoter in an evolutionarily conserved manner. BMC Mol Biol. 2007;8:2 pubmed
    ..with one coding for a serine protease inhibitor (SERPINI1) and the other for a programmed cell death-related gene (PDCD10), being tightly linked together by an asymmetric bidirectional promoter in an evolutionarily conserved fashion...
  3. Stahl S, Gaetzner S, Voss K, Brackertz B, Schleider E, Sürücü O, et al. Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in-frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complex. Hum Mutat. 2008;29:709-17 pubmed publisher
    ..sequencing and MLPA analyses, we identified 15 novel and eight previously published CCM1 (KRIT1), CCM2, and CCM3 (PDCD10) mutations...
  4. Voss K, Stahl S, Schleider E, Ullrich S, Nickel J, Mueller T, et al. CCM3 interacts with CCM2 indicating common pathogenesis for cerebral cavernous malformations. Neurogenetics. 2007;8:249-56 pubmed
    ..In this study, we demonstrate that CCM3 (PDCD10) coprecipitates and colocalizes with CCM2...
  5. Pileggi S, Buscone S, Ricci C, Patrosso M, Marocchi A, Brunori P, et al. Genetic variations within KRIT1/CCM1, MGC4607/CCM2 and PDCD10/CCM3 in a large Italian family harbouring a Krit1/CCM1 mutation. J Mol Neurosci. 2010;42:235-42 pubmed publisher
    ..2, MGC4607/CCM2 on chromosome 7p15-p13 and PDCD10/CCM3 on chromosome 3q25.2-q27. Mutations in KRIT1/CCM1 account for more than 40% of CCMs...
  6. D Angelo R, Marini V, Rinaldi C, Origone P, Dorcaratto A, Avolio M, et al. Mutation analysis of CCM1, CCM2 and CCM3 genes in a cohort of Italian patients with cerebral cavernous malformation. Brain Pathol. 2011;21:215-24 pubmed publisher
    ..cases are associated with mutations in CCM1[K-Rev interaction trapped 1 (KRIT1)], CCM2 (MGC4607) and CCM3 (PDCD10) genes...
  7. Fidalgo M, Guerrero A, Fraile M, Iglesias C, Pombo C, Zalvide J. Adaptor protein cerebral cavernous malformation 3 (CCM3) mediates phosphorylation of the cytoskeletal proteins ezrin/radixin/moesin by mammalian Ste20-4 to protect cells from oxidative stress. J Biol Chem. 2012;287:11556-65 pubmed publisher
    While studying the functions of CCM3/PDCD10, a gene encoding an adaptor protein whose mutation results in vascular malformations, we have found that it is involved in a novel response to oxidative stress that results in phosphorylation ..
  8. Lauenborg B, Kopp K, Krejsgaard T, Eriksen K, Geisler C, Dabelsteen S, et al. Programmed cell death-10 enhances proliferation and protects malignant T cells from apoptosis. APMIS. 2010;118:719-28 pubmed publisher
    The programmed cell death-10 (PDCD10; also known as cerebral cavernous malformation-3 or CCM3) gene encodes an evolutionarily conserved protein associated with cell apoptosis...
  9. Schleider E, Stahl S, Wüstehube J, Walter U, Fischer A, Felbor U. Evidence for anti-angiogenic and pro-survival functions of the cerebral cavernous malformation protein 3. Neurogenetics. 2011;12:83-6 pubmed publisher
    Mutations in CCM1, CCM2, or CCM3 lead to cerebral cavernous malformations, one of the most common hereditary vascular diseases of the brain. Endothelial cells within these lesions are the main disease compartments...
  10. Ma X, Zhao H, Shan J, Long F, Chen Y, Chen Y, et al. PDCD10 interacts with Ste20-related kinase MST4 to promote cell growth and transformation via modulation of the ERK pathway. Mol Biol Cell. 2007;18:1965-78 pubmed
    b>PDCD10 (programmed cell death 10, TFAR15), a novel protein associated with cell apoptosis has been recently implicated in mutations associated with Cerebral Cavernous Malformations (CCM)...
  11. Voss K, Stahl S, Hogan B, Reinders J, Schleider E, Schulte Merker S, et al. Functional analyses of human and zebrafish 18-amino acid in-frame deletion pave the way for domain mapping of the cerebral cavernous malformation 3 protein. Hum Mutat. 2009;30:1003-11 pubmed publisher
    ..and have been associated with loss-of-function mutations in CCM1/KRIT1, CCM2, and CCM3/programmed cell death 10 (PDCD10)...
  12. Zheng X, Xu C, Di Lorenzo A, Kleaveland B, Zou Z, Seiler C, et al. CCM3 signaling through sterile 20-like kinases plays an essential role during zebrafish cardiovascular development and cerebral cavernous malformations. J Clin Invest. 2010;120:2795-804 pubmed publisher
    ..genes encoding three intracellular adaptor proteins, cerebral cavernous malformations 1 protein (CCM1), CCM2, and CCM3. CCM1, CCM2, and CCM3 interact biochemically in a pathway required in endothelial cells during cardiovascular ..
  13. Ding J, Wang X, Li D, Hu Y, Zhang Y, Wang D. Crystal structure of human programmed cell death 10 complexed with inositol-(1,3,4,5)-tetrakisphosphate: a novel adaptor protein involved in human cerebral cavernous malformation. Biochem Biophys Res Commun. 2010;399:587-92 pubmed publisher
    Programmed cell death 10 (PDCD10) is a novel adaptor protein involved in human cerebral cavernous malformation, a common vascular lesion mostly occurring in the central nervous system...
  14. Lin C, Meng S, Zhu T, Wang X. PDCD10/CCM3 acts downstream of {gamma}-protocadherins to regulate neuronal survival. J Biol Chem. 2010;285:41675-85 pubmed publisher
    ..their common cytoplasmic domain, different PCDH-? isoforms interact with an intracellular adaptor protein named PDCD10 (programmed cell death 10)...
  15. Verlaan D, Roussel J, Laurent S, Elger C, Siegel A, Rouleau G. CCM3 mutations are uncommon in cerebral cavernous malformations. Neurology. 2005;65:1982-3 pubmed
    ..Mutations in the gene PDCD10 have been found in CCM families linked to the CCM3 locus...
  16. Lee S, Choi K, Yeo H, Kim J, Ki C, Cho Y. Identification of an Arg35X mutation in the PDCD10 gene in a patient with cerebral and multiple spinal cavernous malformations. J Neurol Sci. 2008;267:177-81 pubmed
    ..Molecular analysis of the KRIT1 (CCM1), CCM2, and PDCD10 (CCM3) genes identified a heterozygous nonsense mutation (c...
  17. Li X, Zhang R, Zhang H, He Y, Ji W, Min W, et al. Crystal structure of CCM3, a cerebral cavernous malformation protein critical for vascular integrity. J Biol Chem. 2010;285:24099-107 pubmed publisher
    ..1-0.5% of the human population. CCM3 (PDCD10, TFAR15) is thought to form a CCM complex with CCM1 and CCM2; however, the molecular basis for these interactions ..
  18. Bergametti F, Denier C, Labauge P, Arnoult M, Boetto S, Clanet M, et al. Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations. Am J Hum Genet. 2005;76:42-51 pubmed
    ..PDCD10, also called "TFAR15," had been initially identified through a screening for genes differentially expressed during the induction ..
  19. Penco S, Ratti R, Bianchi E, Citterio A, Patrosso M, Marocchi A, et al. Molecular screening test in familial forms of cerebral cavernous malformation: the impact of the Multiplex Ligation-dependent Probe Amplification approach. J Neurosurg. 2009;110:929-34 pubmed publisher
    ..Amplification analysis integrates the consecutive sequence analysis of the 3 genes (Krit1/CCM1, MGC4607/CCM2, and PDCD10/CCM3) known to be responsible for cerebral cavernous malformation lesions...
  20. Craig H, Gunel M, Cepeda O, Johnson E, Ptacek L, Steinberg G, et al. Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27. Hum Mol Genet. 1998;7:1851-8 pubmed
    ..In addition to linkage to CCM1, analysis of linkage demonstrates linkage to two new loci, CCM2 at 7p13-15 and CCM3 at 3q25.2-27. Multilocus analysis yields a maximum lod score of 14...
  21. Tsutsumi S, Ogino I, Miyajima M, Ikeda T, Shindo N, Yasumoto Y, et al. Genomic causes of multiple cerebral cavernous malformations in a Japanese population. J Clin Neurosci. 2013;20:667-9 pubmed publisher
    ..with genomic mutations in the cerebral cavernous malformation 1 (CCM1) (KRIT1), CCM2 (MGC4607), and CCM3 (PDCD10) genes...
  22. Zhu H, Guo Y, Feng X, Zhang R, Zhou C, Li G, et al. Familial cerebral cavernous angiomas: clinical and genetic features in a Chinese family with a frame-shift mutation in the CCM1 gene (krit1). J Mol Neurosci. 2014;54:790-5 pubmed publisher
    ..PCR was performed to amplify all of the coding exons of the three CCM genes (CCM1, CCM2, and CCM3) in the proband and revealed a heterozygous T deletion in exon 15 (c.1542delT) of CCM1 gene...
  23. Kar S, Bali K, Baisantry A, Geffers R, Samii A, Bertalanffy H. Genome-Wide Sequencing Reveals MicroRNAs Downregulated in Cerebral Cavernous Malformations. J Mol Neurosci. 2017;61:178-188 pubmed publisher
    ..lesions associated with loss-of-function mutations in one of the three genes encoding KRIT1 (CCM1), CCM2, and PDCD10. Recent understanding of the molecular mechanisms that lead to CCM development is limited...
  24. Otten C, Knox J, Boulday G, Eymery M, Haniszewski M, Neuenschwander M, et al. Systematic pharmacological screens uncover novel pathways involved in cerebral cavernous malformations. EMBO Mol Med. 2018;10: pubmed publisher
    ..We found indirubin-3-monoxime to alleviate the lesion burden in murine preclinical models of CCM2 and CCM3 and suppress the loss-of-CCM phenotypes in human endothelial cells...
  25. Labauge P, Fontaine B, Neau J, Bergametti F, Riant F, Blécon A, et al. Multiple dural lesions mimicking meningiomas in patients with CCM3/PDCD10 mutations. Neurology. 2009;72:2044-6 pubmed publisher
  26. Gibson C, Zhu W, Davis C, Bowman Kirigin J, Chan A, Ling J, et al. Strategy for identifying repurposed drugs for the treatment of cerebral cavernous malformation. Circulation. 2015;131:289-99 pubmed publisher
    ..of patients have a hereditary form of the disease due primarily to loss-of-function mutations in KRIT1, CCM2, or PDCD10. We sought to identify known drugs that could be repurposed to treat CCM...
  27. Yoruk B, Gillers B, Chi N, Scott I. Ccm3 functions in a manner distinct from Ccm1 and Ccm2 in a zebrafish model of CCM vascular disease. Dev Biol. 2012;362:121-31 pubmed publisher
    ..arise due to mutations in genes encoding three unrelated proteins: CCM1 (KRIT1); CCM2 (Malcavernin/OSM) and CCM3 (PDCD10)...
  28. Zhang R, Li X, Boggon T. Structural analysis of the KRIT1 ankyrin repeat and FERM domains reveals a conformationally stable ARD-FERM interface. J Struct Biol. 2015;192:449-456 pubmed publisher
    ..usually occur in the brain and are associated with mutations in the KRIT1/CCM1, CCM2/MGC4607/OSM/Malcavernin, and PDCD10/CCM3/TFAR15 genes. Here we report the 2...
  29. Zhang Y, Hu X, Miao X, Zhu K, Cui S, Meng Q, et al. MicroRNA-425-5p regulates chemoresistance in colorectal cancer cells via regulation of Programmed Cell Death 10. J Cell Mol Med. 2016;20:360-9 pubmed publisher
    ..Inhibition of miR-425-5p reversed chemoresistance in HCT116-R cells. Programmed cell death 10 (PDCD10) is the direct target of miR-425-5p which is required for the regulatory role of miR-425-5p in chemoresistance...
  30. Nishimura S, Mishra Gorur K, Park J, Surovtseva Y, Sebti S, Levchenko A, et al. Combined HMG-COA reductase and prenylation inhibition in treatment of CCM. Proc Natl Acad Sci U S A. 2017;114:5503-5508 pubmed publisher
    ..compounds that could effectively suppress hyperproliferation of mouse brain primary astrocytes deficient for CCM3. We demonstrate that fluvastatin, an inhibitor of 3-hydroxy-3-methyl-glutaryl (HMG)-CoA reductase and the N-..
  31. Herberich S, Klose R, Moll I, Yang W, Wüstehube Lausch J, Fischer A. ANKS1B Interacts with the Cerebral Cavernous Malformation Protein-1 and Controls Endothelial Permeability but Not Sprouting Angiogenesis. PLoS ONE. 2015;10:e0145304 pubmed publisher
    ..blood vessel conglomerates in the central nervous system that are caused by mutations in the CCM1/KRIT1, CCM2 or CCM3 genes...
  32. Cigoli M, De Benedetti S, Marocchi A, Bacigaluppi S, Primignani P, Gesu G, et al. A Novel MGC4607/CCM2 Gene Mutation Associated with Cerebral Spinal and Cutaneous Cavernous Angiomas. J Mol Neurosci. 2015;56:602-7 pubmed publisher
    ..Three genes have been identified as causing familial CCM: KRIT1/CCM1, MGC4607/CCM2, and PDCD10/CCM3, mapping, respectively, on chromosomes 7q, 7p, and 3q...
  33. Stamatovic S, Sladojevic N, Keep R, Andjelkovic A. PDCD10 (CCM3) regulates brain endothelial barrier integrity in cerebral cavernous malformation type 3: role of CCM3-ERK1/2-cortactin cross-talk. Acta Neuropathol. 2015;130:731-50 pubmed publisher
    ..The current study investigates changes in tight junction (TJ) complex organization when PDCD10 (CCM3) is mutated/depleted in human brain endothelial cells...
  34. Zhou Z, Tang A, Wong W, Bamezai S, Goddard L, Shenkar R, et al. Cerebral cavernous malformations arise from endothelial gain of MEKK3-KLF2/4 signalling. Nature. 2016;532:122-6 pubmed publisher
    ..CCMs arise from endothelial cell loss of KRIT1, CCM2 or PDCD10, non-homologous proteins that form an adaptor complex...
  35. Yang C, Nicholas V, Zhao J, Wu B, Zhong H, Li Y, et al. A Novel CCM1/KRIT1 Heterozygous Nonsense Mutation (c.1864C>T) Associated with Familial Cerebral Cavernous Malformation: a Genetic Insight from an 8-Year Continuous Observational Study. J Mol Neurosci. 2017;61:511-523 pubmed publisher
    ..penetrance and variable expression, which is often attributed to mutations in three genes: CCM1, CCM2, and CCM3. We screened a Chinese family diagnosed with FCCM by using Sanger sequencing...
  36. Kleaveland B, Zheng X, Liu J, Blum Y, Tung J, Zou Z, et al. Regulation of cardiovascular development and integrity by the heart of glass-cerebral cavernous malformation protein pathway. Nat Med. 2009;15:169-76 pubmed publisher
    ..CCMs) are human vascular malformations caused by mutations in three genes of unknown function: KRIT1, CCM2 and PDCD10. Here we show that the heart of glass (HEG1) receptor, which in zebrafish has been linked to ccm gene function, is ..
  37. DiStefano P, Kuebel J, Sarelius I, Glading A. KRIT1 protein depletion modifies endothelial cell behavior via increased vascular endothelial growth factor (VEGF) signaling. J Biol Chem. 2014;289:33054-65 pubmed publisher
    ..The CCM (cerebral cavernous malformation) family of proteins (KRIT1 (Krev-interaction trapped 1), PDCD10, and CCM2) are critical regulators of endothelial cell-cell contact and vascular homeostasis...
  38. Bravi L, Rudini N, Cuttano R, Giampietro C, Maddaluno L, Ferrarini L, et al. Sulindac metabolites decrease cerebrovascular malformations in CCM3-knockout mice. Proc Natl Acad Sci U S A. 2015;112:8421-6 pubmed publisher
    ..We describe here a murine model of the disease that develops after endothelial-cell-selective ablation of the CCM3 gene...
  39. Spiegler S, Kirchmaier B, Rath M, Korenke G, Tetzlaff F, van de Vorst M, et al. FAM222B Is Not a Likely Novel Candidate Gene for Cerebral Cavernous Malformations. Mol Syndromol. 2016;7:144-52 pubmed publisher
    ..to be associated with heterozygous inactivating mutations in 3 genes, CCM1 (KRIT1), CCM2 (MGC4607), and CCM3 (PDCD10) in 1999, 2003 and 2005, respectively...
  40. Cox E, Bambakidis N, Cohen M. Pathology of cavernous malformations. Handb Clin Neurol. 2017;143:267-277 pubmed publisher
    ..Three genes, CCM1, CCM2, and CCM3, have been extensively studied for their role in vascular pathology, resulting in abnormal angiogenesis and ..
  41. Sun Y, Zhang H, Xing X, Zhao Z, He J, Li J, et al. Lead promotes abnormal angiogenesis induced by CCM3 gene defects via mitochondrial pathway. J Dev Orig Health Dis. 2017;:1-9 pubmed publisher
    ..Cerebral cavernous malformations 3 (CCM3) gene plays an important role in cardiovascular development, mainly affecting cell proliferation, differentiation ..
  42. Yaba A, Ordueri N, Tanriover G, Sahin P, Demir N, Celik Ozenci C. Expression of CCM2 and CCM3 during mouse gonadogenesis. J Assist Reprod Genet. 2015;32:1497-507 pubmed publisher
    Three cerebral cavernous malformation (CCM) proteins, CCM1, CCM2, and CCM3, regulate cell-cell adhesion, cell shape and polarity, and most likely cell adhesion to extracellular matrix...
  43. Cullere X, Plovie E, Bennett P, Macrae C, Mayadas T. The cerebral cavernous malformation proteins CCM2L and CCM2 prevent the activation of the MAP kinase MEKK3. Proc Natl Acad Sci U S A. 2015;112:14284-9 pubmed publisher
    Three genes, CCM1, CCM2, and CCM3, interact genetically and biochemically and are mutated in cerebral cavernous malformations (CCM). A recently described member of this CCM family of proteins, CCM2-like (CCM2L), has high homology to CCM2...
  44. Shi C, Shenkar R, Zeineddine H, Girard R, Fam M, Austin C, et al. B-Cell Depletion Reduces the Maturation of Cerebral Cavernous Malformations in Murine Models. J Neuroimmune Pharmacol. 2016;11:369-77 pubmed publisher
    ..Two murine models of heterozygous Ccm3 (Pdcd10), which spontaneously develop CCM lesions with severe and milder phenotypes, were either untreated or received ..
  45. Tsutsumi S, Ogino I, Miyajima M, Arai H, Ito M, Yasumoto Y. Cerebral cavernous malformations with diffuse manifestation: A benign entity?. J Neurol Sci. 2016;367:335-41 pubmed publisher
    ..Genetic analysis revealed CCM1 mutations in four patients, CCM2 mutations in three, and a CCM3 mutation in one...
  46. Xu X, Wang X, Ding J, Wang D. Crystallization and preliminary crystallographic studies of CCM3 in complex with the C-terminal domain of MST4. Acta Crystallogr Sect F Struct Biol Cryst Commun. 2012;68:760-3 pubmed publisher
    MST4 is a member of the GCKIII kinases. The interaction between cerebral cavernous malformation 3 (CCM3) and GCKIII kinases plays a critical role in cardiovascular development and in cerebral cavernous malformations...
  47. D Angelo R, Alafaci C, Scimone C, Ruggeri A, Salpietro F, Bramanti P, et al. Sporadic cerebral cavernous malformations: report of further mutations of CCM genes in 40 Italian patients. Biomed Res Int. 2013;2013:459253 pubmed publisher
    ..to mutations in three different genes: CCM1 (K-Rev interaction trapped 1 (KRIT1)), CCM2 (MGC4607), and CCM3 (PDCD10)...
  48. Rinaldi C, Bramanti P, Famà A, Scimone C, Donato L, Antognelli C, et al. GLYOXALASE I A111E, PARAOXONASE 1 Q192R AND L55M POLYMORPHISMS IN ITALIAN PATIENTS WITH SPORADIC CEREBRAL CAVERNOUS MALFORMATIONS: A PILOT STUDY. J Biol Regul Homeost Agents. 2015;29:493-500 pubmed
    ..clinical expression attributable to mutations in three different genes: CCM1(Krit1), CCM2 (MGC4607) and CCM3 (PDCD10)...
  49. Mondejar R, Lucas M. Molecular diagnosis in cerebral cavernous malformations. Neurologia. 2017;32:540-545 pubmed publisher
    ..Three genes have been linked to development of the lesions: CCM1/KRIT1, CCM2/MGC4607, and CCM3/PDCD10. The aetiological mutation is not detected in a large percentage of cases and new approaches are therefore needed...
  50. Kar S, Baisantry A, Nabavi A, Bertalanffy H. Role of Delta-Notch signaling in cerebral cavernous malformations. Neurosurg Rev. 2016;39:581-9 pubmed publisher
    ..in one of the three well-known CCM genes: Krev interaction trapped 1 (KRIT1), OSM, and programmed cell death 10 (PDCD10)...
  51. Bravi L, Malinverno M, Pisati F, Rudini N, Cuttano R, Pallini R, et al. Endothelial Cells Lining Sporadic Cerebral Cavernous Malformation Cavernomas Undergo Endothelial-to-Mesenchymal Transition. Stroke. 2016;47:886-90 pubmed publisher
    ..an inherited form of the disease with ubiquitous loss-of-function mutation in any one of 3 genes CCM1, CCM2, and CCM3. The rest of patients develop sporadic vascular lesions histologically similar to those of the inherited form and ..
  52. Wu Z, Qi Y, Guo Z, Li P, Zhou D. miR-613 suppresses ischemia-reperfusion-induced cardiomyocyte apoptosis by targeting the programmed cell death 10 gene. Biosci Trends. 2016;10:251-7 pubmed publisher
    ..Programmed cell death 10 (PDCD10) was identified as a target gene of miR-613. miR-613 significantly increased the phosphorylation of Akt (p-Akt)...
  53. Yang C, Zhao J, Wu B, Zhong H, Li Y, Xu Y. Identification of a Novel Deletion Mutation (c.1780delG) and a Novel Splice-Site Mutation (c.1412-1G>A) in the CCM1/KRIT1 Gene Associated with Familial Cerebral Cavernous Malformation in the Chinese Population. J Mol Neurosci. 2017;61:8-15 pubmed publisher
    ..dominant manner with incomplete penetrance, are attributed to mutations in CCM1/KRIT1, CCM2/MGC4607, and CCM3/PDCD10 genes. To date, little is known about the genetic alterations leading to FCCM in the Chinese population...
  54. Wang H, Pan Y, Zhang Z, Li X, Xu Z, Suo Y, et al. A Novel KRIT1/CCM1 Gene Insertion Mutation Associated with Cerebral Cavernous Malformations in a Chinese Family. J Mol Neurosci. 2017;61:221-226 pubmed publisher
    ..vascular malformation disorder that closely associated with three identified genes: KRIT1/CCM1, MGC4607/CCM2, and PDCD10/CCM3. Here, we present a Chinese family affected by FCCM due to a novel KRIT1/CCM1 insertion mutation...
  55. Urfali Mamatoglu C, Kazan H, Gunduz U. Dual function of programmed cell death 10 (PDCD10) in drug resistance. Biomed Pharmacother. 2018;101:129-136 pubmed publisher
    ..Programmed Cell Death 10 (PDCD10) protein is recently associated with the regulation of cell survival and apoptosis...
  56. Mondéjar R, Solano F, Rubio R, Delgado M, Pérez Sempere A, Gonzalez Meneses A, et al. Mutation prevalence of cerebral cavernous malformation genes in Spanish patients. PLoS ONE. 2014;9:e86286 pubmed publisher
    ..We analyzed the CCM1, CCM2, and CCM3 genes by MLPA and direct sequencing of exons and intronic boundaries in 94 familial forms and 41 sporadic cases of ..
  57. Marchi S, Corricelli M, Trapani E, Bravi L, Pittaro A, Delle Monache S, et al. Defective autophagy is a key feature of cerebral cavernous malformations. EMBO Mol Med. 2015;7:1403-17 pubmed publisher
    ..Causative loss-of-function mutations have been identified in three genes, KRIT1 (CCM1), CCM2 (MGC4607), and PDCD10 (CCM3), which occur in both sporadic and familial forms...
  58. Komiyama M, Miyatake S, Terada A, Ishiguro T, Ichiba H, Matsumoto N. Vein of Galen Aneurysmal Malformation in Monozygotic Twin. World Neurosurg. 2016;91:672.e11-5 pubmed publisher
    ..mutation or copy number variations were identified in ENG, ALK1, SMAD4, BMPR2, PTEN, RASA1, KRIT1, Marcavernin, or PDCD10 through whole-exome sequencing (WES)...
  59. Merello E, Pavanello M, Consales A, Mascelli S, Raso A, Accogli A, et al. Genetic Screening of Pediatric Cavernous Malformations. J Mol Neurosci. 2016;60:232-8 pubmed publisher
    ..Heterozygous loss of function mutations in CCM1/KRIT1, CCM2/MGC4607, and CCM3/PDCD10 genes are identified in about 90 % of familial cases of CCMs and two thirds of sporadic cases with multiple ..
  60. Retta S, Glading A. Oxidative stress and inflammation in cerebral cavernous malformation disease pathogenesis: Two sides of the same coin. Int J Biochem Cell Biol. 2016;81:254-270 pubmed publisher
    ..a growing understanding of the biological functions of the three known CCM proteins, CCM1/KRIT1, CCM2 and CCM3/PDCD10. In particular, accumulating evidence indicates that these proteins play major roles in distinct signaling ..
  61. Belousova O, Okishev D, Ignatova T, Balashova M, Boulygina E. Hereditary Multiple Cerebral Cavernous Malformations Associated with Wilson Disease and Multiple Lipomatosis. World Neurosurg. 2017;105:1034.e1-1034.e6 pubmed publisher
    ..Genetic analysis revealed single nucleotide polymorphisms in genes CCM2 and CCM3, associated with cavernous malformations, and homozygote mutation in the ATP7B gene, responsible for Wilson disease...
  62. Johnson A, Roach J, Hu A, Stamatovic S, Zochowski M, Keep R, et al. Connexin 43 gap junctions contribute to brain endothelial barrier hyperpermeability in familial cerebral cavernous malformations type III by modulating tight junction structure. FASEB J. 2018;: pubmed publisher
    ..type III (fCCM3) is a disease of the cerebrovascular system caused by loss-of-function mutations in ccm3 that result in dilated capillary beds that are susceptible to hemorrhage...
  63. Donat S, Lourenço M, Paolini A, Otten C, Renz M, Abdelilah Seyfried S. Heg1 and Ccm1/2 proteins control endocardial mechanosensitivity during zebrafish valvulogenesis. elife. 2018;7: pubmed publisher
    ..is an inherited vascular disease that occurs when a second somatic mutation causes a loss of CCM1/KRIT1, CCM2, or CCM3 proteins. Here, we demonstrate that zebrafish Krit1 regulates the formation of cardiac valves...
  64. Cuttano R, Rudini N, Bravi L, Corada M, Giampietro C, Papa E, et al. KLF4 is a key determinant in the development and progression of cerebral cavernous malformations. EMBO Mol Med. 2016;8:6-24 pubmed publisher
    ..Familial CCM is caused by loss-of-function mutations in any of Ccm1, Ccm2, and Ccm3 genes. CCM cavernomas are lined by endothelial cells (ECs) undergoing endothelial-to-mesenchymal transition (EndMT)...
  65. Kumar A, Bhandari A, Goswami C. Surveying genetic variants and molecular phylogeny of cerebral cavernous malformation gene, CCM3/PDCD10. Biochem Biophys Res Commun. 2014;455:98-106 pubmed
    The three cerebral cavernous malformations (CCMs) genes namely CCM1/KRIT1, CCM2/MGC4607 and CCM3/PDCD10 have been identified for which mutations cause cerebral cavernous malformations...
  66. Garaci F, Marsili L, Riant F, Marziali S, Cécillon M, Pasquarelli R, et al. Cerebral cavernous malformations associated to meningioma: High penetrance in a novel family mutated in the PDCD10 gene. Neuroradiol J. 2015;28:289-93 pubmed publisher
    ..to corroborate a preferential association of CCMs and multiple meningiomas in subjects harbouring mutations in the PDCD10 gene (also known as CCM3)...
  67. Gao Y, Yin Y, Xing X, Zhao Z, Lu Y, Sun Y, et al. Arsenic-induced anti-angiogenesis via miR-425-5p-regulated CCM3. Toxicol Lett. 2016;254:22-31 pubmed publisher
    ..reversed the NaAsO2-induced anti-angiogenesis through its direct target cerebral cavernous malformation 3 (CCM3). Furthermore, we showed that NaAsO2 up-regulated CCM3 expression in vitro and in vivo...
  68. Scimone C, Bramanti P, Ruggeri A, Donato L, Alafaci C, Crisafulli C, et al. CCM3/SERPINI1 bidirectional promoter variants in patients with cerebral cavernous malformations: a molecular and functional study. BMC Med Genet. 2016;17:74 pubmed
    ..Causes of familial forms are mutations in CCM1 (Krit1), CCM2 (MGC4607) and CCM3 (PDCD10) genes. Sporadic forms with no affected relative most often have only one lesion and no germ line mutations...
  69. Mardakheh F, Self A, Marshall C. RHO binding to FAM65A regulates Golgi reorientation during cell migration. J Cell Sci. 2016;129:4466-4479 pubmed
    ..FAM65A links RHO proteins to Golgi-localising cerebral cavernous malformation-3 protein (CCM3; also known as PDCD10) and its interacting proteins mammalian STE20-like protein kinases 3 and 4 (MST3 and MST4; also known as STK24 and ..
  70. Labauge P, Krivosic V, Denier C, Tournier Lasserve E, Gaudric A. Frequency of retinal cavernomas in 60 patients with familial cerebral cavernomas: a clinical and genetic study. Arch Ophthalmol. 2006;124:885-6 pubmed
    ..To define the frequency of retinal lesions in a large panel of patients with familial cerebral cavernomas and to screen the cerebral cavernous malformation genes in patients with cerebral and retinal lesions...
  71. Spiegler S, Rath M, Hoffjan S, Dammann P, Sure U, Pagenstecher A, et al. First large genomic inversion in familial cerebral cavernous malformation identified by whole genome sequencing. Neurogenetics. 2018;19:55-59 pubmed publisher
    ..Molecular genetic analyses of CCM1, CCM2, and CCM3 result in a mutation detection rate of up to 98%...
  72. Zhang M, Dong L, Shi Z, Jiao S, Zhang Z, Zhang W, et al. Structural mechanism of CCM3 heterodimerization with GCKIII kinases. Structure. 2013;21:680-8 pubmed
    Mutation of CCM3 causes cerebral cavernous malformations of the vasculature, leading to focal neurological deficits, seizures, and hemorrhagic stroke...
  73. Xu X, Wang X, Zhang Y, Wang D, Ding J. Structural basis for the unique heterodimeric assembly between cerebral cavernous malformation 3 and germinal center kinase III. Structure. 2013;21:1059-66 pubmed publisher
    Defects in cerebral cavernous malformation protein CCM3 result in cerebral cavernous malformation (CCM), a common vascular lesion of the human CNS. CCM3 functions as an adaptor protein that interacts with various signal proteins...
  74. Cigoli M, Avemaria F, De Benedetti S, Gesu G, Accorsi L, Parmigiani S, et al. PDCD10 gene mutations in multiple cerebral cavernous malformations. PLoS ONE. 2014;9:e110438 pubmed publisher
    ..Three genes have been identified causing familial CCM: KRIT1/CCM1, MGC4607/CCM2, and PDCD10/CCM3...
  75. Draheim K, Li X, Zhang R, Fisher O, Villari G, Boggon T, et al. CCM2-CCM3 interaction stabilizes their protein expression and permits endothelial network formation. J Cell Biol. 2015;208:987-1001 pubmed publisher
    Mutations in the essential adaptor proteins CCM2 or CCM3 lead to cerebral cavernous malformations (CCM), vascular lesions that most frequently occur in the brain and are strongly associated with hemorrhagic stroke, seizures, and other ..
  76. Fu X, Zhang W, Su Y, Lu L, Wang D, Wang H. MicroRNA-103 suppresses tumor cell proliferation by targeting PDCD10 in prostate cancer. Prostate. 2016;76:543-51 pubmed publisher
    ..Subsequent dual-luciferase reporter assay identified one of the proto-oncogene PDCD10 as direct target of miR-103...
  77. Choe C, Riant F, Gerloff C, Tournier Lasserve E, Orth M. Multiple cerebral cavernous malformations and a novel CCM3 germline deletion in a German family. J Neurol. 2010;257:2097-8 pubmed publisher
  78. Guerrero A, Iglesias C, Raguz S, Floridia E, Gil J, Pombo C, et al. The cerebral cavernous malformation 3 gene is necessary for senescence induction. Aging Cell. 2015;14:274-83 pubmed publisher
    ..We report in this study that lack of CCM3 unexpectedly impairs the senescence response of cells, and this is related to the inability of CCM3-deficient cells ..
  79. Yang C, Wu B, Zhong H, Li Y, Zheng X, Xu Y. A novel CCM1/KRIT1 heterozygous deletion mutation (c.1919delT) in a Chinese family with familial cerebral cavernous malformation. Clin Neurol Neurosurg. 2018;164:44-46 pubmed publisher
    ..The pathogenic genes of FCCM have been mapped into three loci: CCM1/KRIT1, CCM2/MGC4607, and CCM3/PDCD10. Till now, the genetic basis of FCCM in the Chinese population has yet to be well understood...
  80. Zhang H, Ma X, Deng X, Chen Y, Mo X, Zhang Y, et al. PDCD10 interacts with STK25 to accelerate cell apoptosis under oxidative stress. Front Biosci (Landmark Ed). 2012;17:2295-305 pubmed
    An apoptosis-related protein, cerebral cavernous malformation 3 (CCM3 or PDCD10), has recently been implicated in mutations associated with cerebral cavernous malformation...
  81. Fisher O, Zhang R, Li X, Murphy J, Demeler B, Boggon T. Structural studies of cerebral cavernous malformations 2 (CCM2) reveal a folded helical domain at its C-terminus. FEBS Lett. 2013;587:272-7 pubmed publisher
    ..Additionally, CCM2 HHD contains an unusually long 13-residue 3(10) helix. This study provides the first structural characterization of CCM2. ..
  82. Shenkar R, Shi C, Rebeiz T, Stockton R, McDonald D, Mikati A, et al. Exceptional aggressiveness of cerebral cavernous malformation disease associated with PDCD10 mutations. Genet Med. 2015;17:188-196 pubmed publisher
    The phenotypic manifestations of cerebral cavernous malformation disease caused by rare PDCD10 mutations have not been systematically examined, and a mechanistic link to Rho kinase-mediated hyperpermeability, a potential therapeutic ..
  83. Zhu Y, Zhao K, Prinz A, Keyvani K, Lambertz N, Kreitschmann Andermahr I, et al. Loss of endothelial programmed cell death 10 activates glioblastoma cells and promotes tumor growth. Neuro Oncol. 2016;18:538-48 pubmed publisher
    ..Programmed cell death 10 (PDCD10) is ubiquitously expressed in nearly all tissues and plays crucial roles in regulating angiogenesis and apoptosis...
  84. Rath M, Jenssen S, Schwefel K, Spiegler S, Kleimeier D, Sperling C, et al. High-throughput sequencing of the entire genomic regions of CCM1/KRIT1, CCM2 and CCM3/PDCD10 to search for pathogenic deep-intronic splice mutations in cerebral cavernous malformations. Eur J Med Genet. 2017;60:479-484 pubmed publisher
    ..Disease-associated mutations have been identified in three genes: CCM1/KRIT1, CCM2 and CCM3/PDCD10. The precise proportion of deep-intronic variants in these genes and their clinical relevance is yet unknown...
  85. Rosário Marques I, Antunes F, Ferreira N, Grunho M. Familial cerebral cavernous malformation: Report of a novel KRIT1 mutation in a Portuguese family. Seizure. 2017;53:72-74 pubmed publisher
    ..Mutations have been identified in three genes: KRIT1, MGC4607 and PDCD10. We have documented a novel mutation on KRIT1 gene, and the second to be reported in a Portuguese family...
  86. Zhang H, Ma X, Peng S, Nan X, Zhao H. Differential expression of MST4, STK25 and PDCD10 between benign prostatic hyperplasia and prostate cancer. Int J Clin Exp Pathol. 2014;7:8105-11 pubmed
    ..serine/threonine kinase 25 (STK25) belong to the Ste20-like kinases and interact with programmed cell death 10 (PDCD10) which is closely linked to cancer diseases...
  87. Scimone C, Bramanti P, Ruggeri A, Katsarou Z, Donato L, Sidoti A, et al. Detection of Novel Mutation in Ccm3 Causes Familial Cerebral Cavernous Malformations. J Mol Neurosci. 2015;57:400-3 pubmed publisher
    ..Causes of familial forms are mutations at three loci: CCM1/KRIT1, CCM2/MGC4607, and CCM3/PDCD10. Here, we describe a novel CCM3 missense mutation (c...
  88. Lambertz N, El Hindy N, Kreitschmann Andermahr I, Stein K, Dammann P, Oezkan N, et al. Downregulation of programmed cell death 10 is associated with tumor cell proliferation, hyperangiogenesis and peritumoral edema in human glioblastoma. BMC Cancer. 2015;15:759 pubmed publisher
    Neovascularization and peritumoral edema are hallmarks of glioblastoma (GBM). Programmed cell death 10 (PDCD10) plays a pivotal role in regulating apoptosis, neoangiogenesis and vessel permeability and is implicated in certain tumor ..
  89. Choi J, Yang X, Foley M, Wang X, Zheng X. Induction and Micro-CT Imaging of Cerebral Cavernous Malformations in Mouse Model. J Vis Exp. 2017;: pubmed publisher
    Mutations in the CCM1 (aka KRIT1), CCM2, or CCM3 (aka PDCD10) gene cause cerebral cavernous malformation (CCM) in humans. Mouse models of CCM disease have been established by tamoxifen induced deletion of Ccm genes in postnatal animals...
  90. Tanriover G, Seval Y, Sati L, Gunel M, Demir N. CCM2 and CCM3 proteins contribute to vasculogenesis and angiogenesis in human placenta. Histol Histopathol. 2009;24:1287-94 pubmed publisher
    ..Three CCM loci have been mapped as Ccm1, Ccm2, Ccm3 genes in CCM...
  91. Dibble C, Horst J, Malone M, Park K, Temple B, Cheeseman H, et al. Defining the functional domain of programmed cell death 10 through its interactions with phosphatidylinositol-3,4,5-trisphosphate. PLoS ONE. 2010;5:e11740 pubmed publisher
    ..Three genes, Krit1 (CCM1), OSM (CCM2), and PDCD10 (CCM3) are involved in CCM development. PDCD10 binds specifically to PtdIns(3,4,5)P3 and OSM...