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Volumn 131, Issue 18, 2015, Pages 1555-1565

Molecular and genetic analyses of collagen type IV mutant mouse models of spontaneous intracerebral hemorrhage identify mechanisms for stroke prevention

Author keywords

Cerebrovascular disorders; Collagen; Genetics; Hemorrhage; Stroke

Indexed keywords

4 PHENYLBUTYRIC ACID; COLLAGEN TYPE 4; COLLAGEN TYPE 4 ALPHA1; COLLAGEN TYPE 4 ALPHA2; CRE RECOMBINASE; HEMOSIDERIN; TAMOXIFEN; UNCLASSIFIED DRUG; WARFARIN; COL4A2 PROTEIN, MOUSE; COLLAGEN; PEPTIDE FRAGMENT;

EID: 84929359436     PISSN: 00097322     EISSN: 15244539     Source Type: Journal    
DOI: 10.1161/CIRCULATIONAHA.114.013395     Document Type: Article
Times cited : (95)

References (44)
  • 3
    • 84867124426 scopus 로고    scopus 로고
    • COL4A1 and COL4A2 mutations and disease: Insights into pathogenic mechanisms and potential therapeutic targets
    • Kuo DS, Labelle-Dumais C, Gould DB. COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets. Hum Mol Genet. 2012;21:R97-R110. doi: 10.1093/hmg/dds346.
    • (2012) Hum Mol Genet , vol.21 , pp. R97-R110
    • Kuo, D.S.1    Labelle-Dumais, C.2    Gould, D.B.3
  • 7
    • 1442310569 scopus 로고    scopus 로고
    • Basement membrane assembly, stability and activities observed through a developmental lens
    • Yurchenco PD, Amenta PS, Patton BL. Basement membrane assembly, stability and activities observed through a developmental lens. Matrix Biol. 2004;22:521-538. doi: 10.1016/j.matbio.2003.10.006.
    • (2004) Matrix Biol , vol.22 , pp. 521-538
    • Yurchenco, P.D.1    Amenta, P.S.2    Patton, B.L.3
  • 8
    • 0023600043 scopus 로고
    • Basement membrane structure in situ: Evidence for lateral associations in the type IV collagen network
    • Yurchenco PD, Ruben GC. Basement membrane structure in situ: evidence for lateral associations in the type IV collagen network. J Cell Biol. 1987;105(pt 1):2559-2568.
    • (1987) J Cell Biol , vol.105 , Issue.1 , pp. 2559-2568
    • Yurchenco, P.D.1    Ruben, G.C.2
  • 9
    • 33646843291 scopus 로고    scopus 로고
    • Mechanism of chain selection in the assembly of collagen IV: A prominent role for the alpha2 chain
    • Khoshnoodi J, Sigmundsson K, Cartailler JP, Bondar O, Sundaramoorthy M, Hudson BG. Mechanism of chain selection in the assembly of collagen IV: a prominent role for the alpha2 chain. J Biol Chem. 2006;281:6058-6069. doi: 10.1074/jbc.M506555200.
    • (2006) J Biol Chem , vol.281 , pp. 6058-6069
    • Khoshnoodi, J.1    Sigmundsson, K.2    Cartailler, J.P.3    Bondar, O.4    Sundaramoorthy, M.5    Hudson, B.G.6
  • 10
    • 0019800793 scopus 로고
    • Type IV collagens' isolation and characterization of 7S collagen from human kidney, liver and lung
    • Dixit SN, Stuart JM, Seyer JM, Risteli J, Timpl R, Kang AH. Type IV collagens' isolation and characterization of 7S collagen from human kidney, liver and lung. Coll Relat Res. 1981;1:549-556.
    • (1981) Coll Relat Res , vol.1 , pp. 549-556
    • Dixit, S.N.1    Stuart, J.M.2    Seyer, J.M.3    Risteli, J.4    Timpl, R.5    Kang, A.H.6
  • 12
    • 0028799026 scopus 로고
    • The function of the NC1 domains in type IV collagen
    • Ries A, Engel J, Lustig A, Kühn K. The function of the NC1 domains in type IV collagen. J Biol Chem. 1995;270:23790-23794.
    • (1995) J Biol Chem , vol.270 , pp. 23790-23794
    • Ries, A.1    Engel, J.2    Lustig, A.3    Kühn, K.4
  • 13
    • 0034730769 scopus 로고    scopus 로고
    • Type IV collagen of the glomerular basement membrane: Evidence that the chain specificity of network assembly is encoded by the noncollagenous NC1 domains
    • Boutaud A, Borza DB, Bondar O, Gunwar S, Netzer KO, Singh N, Ninomiya Y, Sado Y, Noelken ME, Hudson BG. Type IV collagen of the glomerular basement membrane: evidence that the chain specificity of network assembly is encoded by the noncollagenous NC1 domains. J Biol Chem. 2000;275:30716-30724. doi: 10.1074/jbc.M004569200.
    • (2000) J Biol Chem , vol.275 , pp. 30716-30724
    • Boutaud, A.1    Borza, D.B.2    Bondar, O.3    Gunwar, S.4    Netzer, K.O.5    Singh, N.6    Ninomiya, Y.7    Sado, Y.8    Noelken, M.E.9    Hudson, B.G.10
  • 14
    • 0025778486 scopus 로고
    • Mutations in collagen genes: Causes of rare and some common diseases in humans
    • Kuivaniemi H, Tromp G, Prockop DJ. Mutations in collagen genes: causes of rare and some common diseases in humans. FASEB J. 1991;5:2052-2060.
    • (1991) FASEB J , vol.5 , pp. 2052-2060
    • Kuivaniemi, H.1    Tromp, G.2    Prockop, D.J.3
  • 15
    • 0021247323 scopus 로고
    • Heritable diseases of collagen
    • Prockop DJ, Kivirikko KI. Heritable diseases of collagen. N Engl J Med. 1984;311:376-386. doi: 10.1056/NEJM198408093110606.
    • (1984) N Engl J Med , vol.311 , pp. 376-386
    • Prockop, D.J.1    Kivirikko, K.I.2
  • 16
    • 0025904728 scopus 로고
    • The zipper-like folding of collagen triple helices and the effects of mutations that disrupt the zipper
    • Engel J, Prockop DJ. The zipper-like folding of collagen triple helices and the effects of mutations that disrupt the zipper. Annu Rev Biophys Biophys Chem. 1991;20:137-152. doi: 10.1146/annurev.bb.20.060191.001033.
    • (1991) Annu Rev Biophys Biophys Chem , vol.20 , pp. 137-152
    • Engel, J.1    Prockop, D.J.2
  • 18
    • 84911434970 scopus 로고    scopus 로고
    • Allelic heterogeneity contributes to variability in ocular dysgenesis, myopathy and brain malformations caused by Col4a1 and Col4a2 mutations
    • Kuo DS, Labelle-Dumais C, Mao M, Jeanne M, Kauffman WB, Allen J, Favor J, Gould DB. Allelic heterogeneity contributes to variability in ocular dysgenesis, myopathy and brain malformations caused by Col4a1 and Col4a2 mutations. Hum Mol Genet. 2014;23:1709-1722. doi: 10.1093/hmg/ddt560.
    • (2014) Hum Mol Genet , vol.23 , pp. 1709-1722
    • Kuo, D.S.1    Labelle-Dumais, C.2    Mao, M.3    Jeanne, M.4    Kauffman, W.B.5    Allen, J.6    Favor, J.7    Gould, D.B.8
  • 20
    • 34247866422 scopus 로고    scopus 로고
    • Type IV procollagen missense mutations associated with defects of the eye, vascular stability, the brain, kidney function and embryonic or postnatal viability in the mouse, Mus musculus: An extension of the Col4a1 allelic series and the identification of the first two Col4a2 mutant alleles
    • Favor J, Gloeckner CJ, Janik D, Klempt M, Neuhauser-Klaus A, Pretsch W, Schmahl W, Quintanilla-Fend L. Type IV procollagen missense mutations associated with defects of the eye, vascular stability, the brain, kidney function and embryonic or postnatal viability in the mouse, Mus musculus: an extension of the Col4a1 allelic series and the identification of the first two Col4a2 mutant alleles. Genetics. 2007;175:725-736.
    • (2007) Genetics , vol.175 , pp. 725-736
    • Favor, J.1    Gloeckner, C.J.2    Janik, D.3    Klempt, M.4    Neuhauser-Klaus, A.5    Pretsch, W.6    Schmahl, W.7    Quintanilla-Fend, L.8
  • 21
    • 0037444638 scopus 로고    scopus 로고
    • A noninvasive genetic/pharmacologic strategy for visualizing cell morphology and clonal relationships in the mouse
    • Badea TC, Wang Y, Nathans J. A noninvasive genetic/pharmacologic strategy for visualizing cell morphology and clonal relationships in the mouse. J Neurosci. 2003;23:2314-2322.
    • (2003) J Neurosci , vol.23 , pp. 2314-2322
    • Badea, T.C.1    Wang, Y.2    Nathans, J.3
  • 24
    • 0035170704 scopus 로고    scopus 로고
    • hGFAP-cre transgenic mice for manipulation of glial and neuronal function in vivo
    • Zhuo L, Theis M, Alvarez-Maya I, Brenner M, Willecke K, Messing A. hGFAP-cre transgenic mice for manipulation of glial and neuronal function in vivo. Genesis. 2001;31:85-94.
    • (2001) Genesis , vol.31 , pp. 85-94
    • Zhuo, L.1    Theis, M.2    Alvarez-Maya, I.3    Brenner, M.4    Willecke, K.5    Messing, A.6
  • 26
    • 0028971366 scopus 로고
    • Establishment by the rat lymph node method of epitope-defined monoclonal antibodies recognizing the six different alpha chains of human type IV collagen
    • Sado Y, Kagawa M, Kishiro Y, Sugihara K, Naito I, Seyer JM, Sugimoto M, Oohashi T, Ninomiya Y. Establishment by the rat lymph node method of epitope-defined monoclonal antibodies recognizing the six different alpha chains of human type IV collagen. Histochem Cell Biol. 1995;104:267-275.
    • (1995) Histochem Cell Biol , vol.104 , pp. 267-275
    • Sado, Y.1    Kagawa, M.2    Kishiro, Y.3    Sugihara, K.4    Naito, I.5    Seyer, J.M.6    Sugimoto, M.7    Oohashi, T.8    Ninomiya, Y.9
  • 32
    • 34447336145 scopus 로고    scopus 로고
    • Col4a1 mutation causes endoplasmic reticulum stress and genetically modifiable ocular dysgenesis
    • Gould DB, Marchant JK, Savinova OV, Smith RS, John SW. Col4a1 mutation causes endoplasmic reticulum stress and genetically modifiable ocular dysgenesis. Hum Mol Genet. 2007;16:798-807. doi: 10.1093/hmg/ddm024.
    • (2007) Hum Mol Genet , vol.16 , pp. 798-807
    • Gould, D.B.1    Marchant, J.K.2    Savinova, O.V.3    Smith, R.S.4    John, S.W.5
  • 34
    • 0024421465 scopus 로고
    • Osteogenesis imperfect: The position of substitution for glycine by cysteine in the triple helical domain of the pro alpha 1(I) chains of type I collagen determines the clinical phenotype
    • Starman BJ, Eyre D, Charbonneau H, Harrylock M, Weis MA, Weiss L, Graham JM Jr, Byers PH. Osteogenesis imperfect: the position of substitution for glycine by cysteine in the triple helical domain of the pro alpha 1(I) chains of type I collagen determines the clinical phenotype. J Clin Invest. 1989;84:1206-1214. doi: 10.1172/JCI114286.
    • (1989) J Clin Invest , vol.84 , pp. 1206-1214
    • Starman, B.J.1    Eyre, D.2    Charbonneau, H.3    Harrylock, M.4    Weis, M.A.5    Weiss, L.6    Graham, J.M.7    Byers, P.H.8
  • 35
    • 0025777221 scopus 로고
    • Osteogenesis imperfecta: Translation of mutation to phenotype
    • Byers PH, Wallis GA, Willing MC. Osteogenesis imperfecta: translation of mutation to phenotype. J Med Genet. 1991;28:433-442.
    • (1991) J Med Genet , vol.28 , pp. 433-442
    • Byers, P.H.1    Wallis, G.A.2    Willing, M.C.3
  • 37
    • 80052712639 scopus 로고    scopus 로고
    • Clinical and experimental applications of sodium phenylbutyrate
    • Iannitti T, Palmieri B. Clinical and experimental applications of sodium phenylbutyrate. Drugs R D. 2011;11:227-249. doi: 10.2165/11591280-000000000-00000.
    • (2011) Drugs R D , vol.11 , pp. 227-249
    • Iannitti, T.1    Palmieri, B.2
  • 38
    • 84903545868 scopus 로고    scopus 로고
    • Chemical chaperone treatment reduces intracellular accumulation of mutant collagen IV and ameliorates the cellular phenotype of a COL4A2 mutation that causes haemorrhagic stroke
    • Murray LS, Lu Y, Taggart A, Van Regemorter N, Vilain C, Abramowicz M, Kadler KE, Van Agtmael T. Chemical chaperone treatment reduces intracellular accumulation of mutant collagen IV and ameliorates the cellular phenotype of a COL4A2 mutation that causes haemorrhagic stroke. Hum Mol Genet. 2014;23:283-292. doi: 10.1093/hmg/ddt418.
    • (2014) Hum Mol Genet , vol.23 , pp. 283-292
    • Murray, L.S.1    Lu, Y.2    Taggart, A.3    Van Regemorter, N.4    Vilain, C.5    Abramowicz, M.6    Kadler, K.E.7    Van Agtmael, T.8
  • 39
    • 0026082034 scopus 로고
    • Transforming growth factor beta type 1 binds to collagen IV of basement membrane matrix: Implications for development
    • Paralkar VM, Vukicevic S, Reddi AH. Transforming growth factor beta type 1 binds to collagen IV of basement membrane matrix: implications for development. Dev Biol. 1991;143:303-308.
    • (1991) Dev Biol , vol.143 , pp. 303-308
    • Paralkar, V.M.1    Vukicevic, S.2    Reddi, A.H.3
  • 40
    • 51349143013 scopus 로고    scopus 로고
    • Type IV collagens regulate BMP signalling in Drosophila
    • Wang X, Harris RE, Bayston LJ, Ashe HL. Type IV collagens regulate BMP signalling in Drosophila. Nature. 2008;455:72-77. doi: 10.1038/nature07214.
    • (2008) Nature , vol.455 , pp. 72-77
    • Wang, X.1    Harris, R.E.2    Bayston, L.J.3    Ashe, H.L.4
  • 41
    • 84877055769 scopus 로고    scopus 로고
    • Collagen represses canonical Notch signaling and binds to Notch ectodomain
    • Zhang X, Meng H, Wang MM. Collagen represses canonical Notch signaling and binds to Notch ectodomain. Int J Biochem Cell Biol. 2013;45:1274-1280. doi: 10.1016/j.biocel.2013.03.020.
    • (2013) Int J Biochem Cell Biol , vol.45 , pp. 1274-1280
    • Zhang, X.1    Meng, H.2    Wang, M.M.3
  • 42
    • 0028989654 scopus 로고
    • Beta 8 integrins mediate interactions of chick sensory neurons with laminin-1, collagen IV, and fibronectin
    • Venstrom K, Reichardt L. Beta 8 integrins mediate interactions of chick sensory neurons with laminin-1, collagen IV, and fibronectin. Mol Biol Cell. 1995;6:419-431.
    • (1995) Mol Biol Cell , vol.6 , pp. 419-431
    • Venstrom, K.1    Reichardt, L.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.