Interaction between krit1 and malcavernin: Implications for the pathogenesis of cerebral cavernous malformations

Neurosurgery

Volumn 60, Issue 2, 2007, Pages 353-359

  Zhang, Jun ^a   Rigamonti, Daniele ^a   Dietz, Harry C ^a   Clatterbuck, Richard E ^a,b  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b Hattiesburg Clinic   (United States)

Author keywords

CCM1; CCM2; Cerebral cavernous malformations

Indexed keywords

AMINO ACID; ASPARAGINE; CYTOPLASM PROTEIN; KRIT1 PROTEIN; MALCAVERNIN; PROLINE; PROTEIN DERIVATIVE; TYROSINE; UNCLASSIFIED DRUG;

AMINO ACID SEQUENCE; ANIMAL CELL; ARTICLE; BRAIN MALFORMATION; CELL FUNCTION; CELL NUCLEUS; CELLULAR DISTRIBUTION; CEREBRAL CAVERNOUS MALFORMATION; CONTROLLED STUDY; CYTOPLASM; EPITOPE MAPPING; HUMAN; HUMAN CELL; IMMUNOCYTOCHEMISTRY; IMMUNOPRECIPITATION; NONHUMAN; NUCLEAR EXPORT SIGNAL; NUCLEAR LOCALIZATION SIGNAL; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN LOCALIZATION; PROTEIN MOTIF; PROTEIN PROTEIN INTERACTION; SIGNAL TRANSDUCTION; STEADY STATE; TWO HYBRID SYSTEM;

ANIMALS; CENTRAL NERVOUS SYSTEM VASCULAR MALFORMATIONS; CERCOPITHECUS AETHIOPS; COS CELLS; HELA CELLS; HUMANS; MICROFILAMENT PROTEINS; MICROTUBULE-ASSOCIATED PROTEINS; PROTO-ONCOGENE PROTEINS;

EID: 33847001613     PISSN: 0148396X     EISSN: None     Source Type: Journal    
DOI: 10.1227/01.NEU.0000249268.11074.83     Document Type: Article

References (15)

1. Chang DD, Wong C, Smith H, Liu J: Icap-1: A novel β1 integrin cytoplasmic domain-associated protein, binds to a conserved and functionally important npxy sequence motif of beta1 integrin. J Cell Biol 138:1149-1157, 1997.
2. Clatterbuck RE, Eberhart CG, Crain BJ, Rigamonti D: Ultrastructural and immunocytochemical evidence that an incompetent blood-brain barrier is related to the pathophysiology of cavernous malformations. J Neurol Neurosurg Psychiatry 71:188-192, 2001.
3. Craig HD, Gunel M, Cepeda O, Johnson EW, Ptacek L, Steinberg GK, Ogilvy CS, Berg MJ, Crawford SC, Scott RM, Steichen-Gersdorf E, Sabroe R, Kennedy CT, Mettler G, Beis MJ, Fryer A, Awad IA, Lifton RP: 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 7:1851-1858, 1998.
4. Del Curling O Jr, Kelly DL Jr, Elster AD, Craven TE: An analysis of the natural history of cavernous angiomas. J Neurosurg 75:702-708, 1991.
5. Eerola I, Plate KH, Spiegel R, Boon LM, Mulliken JB, Vikkula M: Krit1 is mutated in hyperkeratotic cutaneous capillary-venous malformation associated with cerebral capillary malformation. Hum Mol Genet 9:1351-1355, 2000.
6. Laberge-le Couteulx S, Jung HH, Labauge P, Houtteville JP, Lescoat C, Cecillon M, Marechal E, Joutel A, Bach JF, Tournier-Lasserve E: Truncating mutations in ccm1, encoding krit1, cause hereditary cavernous angiomas. Nat Genet 23:189-193, 1999.
7. 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: 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, 2003.
8. Otten P, Pizzolato GP, Rilliet B, Berney J: 131 cases of cavernous angioma (cavernomas) of the CNS, discovered by retrospective analysis of 24,535 autopsies [in French]. Neurochirurgie 35:82-83, 128-131, 1989.
9. Rigamonti D, Hadley MN, Drayer BP, Johnson PC, Hoenig-Rigamonti K, Knight JT, Spetzler RF: Cerebral cavernous malformations. Incidence and familial occurrence. N Engl J Med 319:343-347, 1988.
10. Sahoo T, Johnson EW, Thomas JW, Kuehl PM, Jones TL, Dokken CG, Touchman JW, Gallione CJ, Lee-Lin SQ, Kosofsky B, Kurth JH, Louis DN, Mettler G, Morrison L, Gil-Nagel A, Rich SS, Zabramski JM, Boguski MS, Green ED, Marchuk DA: Mutations in the gene encoding Krit1, a krev-1/rap1a binding protein, cause cerebral cavernous malformations (ccm1). Hum Mol Genet 8:2325-2333, 1999.
11. Verlaan DJ, Davenport WJ, Stefan H, Sure U, Siegel AM, Rouleau GA: Cerebral cavernous malformations: Mutations in Krit1. Neurology 58:853-857, 2002.
12. Zawistowski JS, Stalheim L, Uhlik MT, Abell AN, Ancrile BB, Johnson GL, Marchuk DA: CCM1 and CCM2 protein interactions in cell signaling: Implications for cerebral cavernous malformations pathogenesis. Hum Mol Genet 14:2521-2531, 2005.
13. Zhang J, Clatterbuck RE, Rigamonti D, Chang DD, Dietz HC: Interaction between krit1 and icap1alpha infers perturbation of integrin beta1-mediated angiogenesis in the pathogenesis of cerebral cavernous malformation. Hum Mol Genet 10:2953-2960, 2001.
14. Zhang J, Clatterbuck RE, Rigamonti D, Dietz HC: Mutations in Krit1 in familial cerebral cavernous malformations. Neurosurgery 46:1272-1279, 2000.
15. Zhang J, Clatterbuck RE, Rigamonti D, Dietz HC: Cloning of the murine Krit1 cDNA reveals novel mammalian 5′ coding exons. Genomics 70:392-395, 2000.