CCM3 interacts with CCM2 indicating common pathogenesis for cerebral cavernous malformations

Neurogenetics

Volumn 8, Issue 4, 2007, Pages 249-256

  Voss, Katrin ^a   Stahl, Sonja ^a   Schleider, Elisa ^a   Ullrich, Sybille ^a   Nickel, Joachim ^a   Mueller, Thomas D ^a   Felbor, Ute ^a  

^a UNIVERSITY OF WÜRZBURG   (Germany)

Author keywords

CCM2; CCM3; Cerebral cavernous malformation; FAP 1; STK25

Indexed keywords

CEREBRAL CAVERNOUS MALFORMATION PROTEIN 1; CEREBRAL CAVERNOUS MALFORMATION PROTEIN 2; CEREBRAL CAVERNOUS MALFORMATION PROTEIN 3; FAS ASSOCIATING PHOSPHATASE 1; KRIT1 PROTEIN; PHOSPHATASE; PROTEIN; PTP BL PROTEIN; PTPN13 PROTEIN; SERINE THREONINE KINASE 24; SERINE THREONINE KINASE 25; UNCLASSIFIED DRUG;

ARTICLE; BRAIN MALFORMATION; CARBOXY TERMINAL SEQUENCE; CELL STRAIN HEK293; CEREBRAL CAVERNOUS MALFORMATION; COMPLEX FORMATION; DEPHOSPHORYLATION; EMBRYO; HUMAN; HUMAN CELL; PATHOGENESIS; PHOSPHORYLATION; PRIORITY JOURNAL; PROTEIN PROTEIN INTERACTION; SIGNAL TRANSDUCTION;

EID: 34948833449     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10048-007-0098-9     Document Type: Article

References (25)

1. Revencu N, Vikkula M (2006) Cerebral cavernous malformation: new molecular and clinical insights. J Med Genet 43:716-721
2. Labauge P, Denier C, Bergametti F, Tournier-Lasserve E (2007) Genetics of cavernous angiomas. Lancet Neurol 6:237-244
3. Laberge-le Couteulx S, Jung HH, Labauge P, Houtteville JP, Lescoat C, Cecillon M, Marechal E, Joutel A, Bach JF, Tournier-Lasserve E (1999) Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas. Nat Genet 23:189-193
4. Liquori CL, Berg MJ, Siegel AM, Huang E, Zawistowski JS, Stoffer T, Verlaan D, Balogun F, Hughes L, Leedom TP, Plummer NW, Cannella M, Maglione V, Squitieri F, Johnson EW, Rouleau GA, Ptacek L, Marchuk DA (2003) Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations. Am J Hum Genet 73:1459-1464
5. Bergametti F, Denier C, Labauge P, Arnoult M, Boetto S, Clanet M, Coubes P, Echenne B, Ibrahim R, Irthum B, Jacquet G, Lonjon M, Moreau JJ, Neau JP, Parker F, Tremoulet M, Tournier-Lasserve E (2005) Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations. Am J Hum Genet 76:42-51
6. Gault J, Shenkar R, Recksiek P, Awad IA (2005) Biallelic somatic and germ line CCM1 truncating mutations in a cerebral cavernous malformation lesion. Stroke 36:872-874
7. Kehrer-Sawatzki H, Wilda M, Braun VM, Richter HP, Hameister H (2002) Mutation and expression analysis of the KRIT1 gene associated with cerebral cavernous malformations (CCM1). Acta Neuropathol (Berl) 104:231-240
8. Denier C, Labauge P, Bergametti F, Marchelli F, Riant F, Arnoult M, Maciazek J, Vicaut E, Brunereau L, Tournier-Lasserve E (2006) Genotype-phenotype correlations in cerebral cavernous malformations patients. Ann Neurol 60:550-556
9. Sürücü O, Sure U, Gaetzner S, Stahl S, Benes L, Bertalanffy H, Felbor U (2006) Clinical impact of CCM mutation detection in familial cavernous angioma. Child's Nerv Syst 22:1461-1464
10. Ng BH, Mulyadi E, Pereira JK, Ghedia S, Pinner J, Mowat D, Vonau M (2006) Familial cerebral cavernous haemangioma diagnosed in an infant with a rapidly growing cerebral lesion. Australas Radiol 50:583-590
11. Zawistowski JS, Stalheim L, Uhlik MT, Abell AN, Ancrile BB, Johnson GL, Marchuk DA (2005) CCM1 and CCM2 protein interactions in cell signaling: implications for cerebral cavernous malformations pathogenesis. Hum Mol Genet 14:2521-2531
12. Zhang J, Rigamonti D, Dietz HC, Clatterbuck RE (2007) Interaction between krit1 and malcavernin: implications for the pathogenesis of cerebral cavernous malformations. Neurosurgery 60:353-359
13. Mably JD, Chuang LP, Serluca FC, Mohideen MA, Chen JN, Fishman MC (2006) santa and valentine pattern concentric growth of cardiac myocardium in the zebrafish. Development 133:3139-3146
14. Zhang J, Clatterbuck RE, Rigamonti D, Chang DD, Dietz HC (2001) Interaction between krit1 and icap1α. infers perturbation of integrin β1-mediated angiogenesis in the pathogenesis of cerebral cavernous malformation. Hum Mol Genet 10:2953-2960
15. Zawistowski JS, Serebriiskii IG, Lee MF, Golemis EA, Marchuk DA (2002) KRIT1 association with the integrin-binding protein ICAP-1: a new direction in the elucidation of cerebral cavernous malformations (CCM1) pathogenesis. Hum Mol Genet 11:389-396
16. Uhlik MT, Abell AN, Johnson NL, Sun W, Cuevas BD, Lobel-Rice KE, Horne EA, Dell'Acqua ML, Johnson GL (2003) Rac-MEKK3-MKK3 scaffolding for p38 MAPK activation during hyperosmotic shock. Nat Cell Biol 5:1104-1110
17. Wang Y, Liu H, Zhang Y, Ma D (1999) cDNA cloning and expression of an apoptosis-related gene, human TFAR15 gene. Sci China 42:323-329
18. Pombo CM, Bonventre JV, Molnar A, Kyriakis J, Force T (1996) Activation of a human Ste20-like kinase by oxidant stress defines a novel stress response pathway. EMBO J 15:4537-4546
19. Petit N, Blecon A, Denier C, Tournier-Lasserve E (2006) Patterns of expression of the three cerebral cavernous malformation (CCM) genes during embryonic and postnatal brain development. Gene Expr Patterns 6:495-503
20. Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (2005) Towards a proteome-scale map of the human protein-protein interaction network. Nature 437:1173-1178
21. Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, McBroom-Cerajewski L, Robinson MD, O'Connor L, Li M, Taylor R, Dharsee M, Ho Y, Heilbut A, Moore L, Zhang S, Ornatsky O, Bukhman YV, Ethier M, Sheng Y, Vasilescu J, Abu-Farha M, Lambert JP, Duewel HS, Stewart II, Kuehl B, Hogue K, Colwill K, Gladwish K, Muskat B, Kinach R, Adams SL, Moran MF, Morin GB, Topaloglou T, Figeys D (2007) Large-scale mapping of human protein-protein interactions by mass spectrometry. Mol Syst Biol 3:89
22. Ma X, Zhao H, Shan J, Long F, Chen Y, Zhang Y, Han X, Ma D (2007) PDCD10 interacts with Ste20-related kinase MST4 to promote cell growth and transformation via modulation of ERK pathway. Mol Biol Cell 18:1965-1978
23. Erdmann KS (2003) The protein tyrosine phosphatase PTP-basophil/basophil- like. Interacting proteins and molecular functions. Eur J Biochem 270:4789-4798
24. Preisinger C, Short B, De Corte V, Bruyneel E, Haas A, Kopajtich R, Gettemans J, Barr FA (2004) YSK1 is activated by the Golgi matrix protein GM130 and plays a role in cell migration through its substrate 14-3-3ζ. J Cell Biol 164:1009-1020
25. Clamp M, Cuff J, Searle SM, Barton GJ (2004) The Jalview Java alignment editor. Bioinformatics 20:426-427