메뉴 건너뛰기




Volumn 20, Issue 11-12, 2009, Pages 711-719

Characterization of the dwg mutations: Dwg and dwg Bayer are new mutant alleles of the Ggt1 gene

Author keywords

[No Author keywords available]

Indexed keywords

GAMMA GLUTAMYLTRANSFERASE; GAMMA GLUTAMYLTRANSFERASE 1; UNCLASSIFIED DRUG;

EID: 73549116538     PISSN: 09388990     EISSN: 14321777     Source Type: Journal    
DOI: 10.1007/s00335-009-9221-6     Document Type: Article
Times cited : (7)

References (18)
  • 1
    • 0029794493 scopus 로고    scopus 로고
    • Two-exon skipping due to a point mutation in p67-phox-deficient chronic granulomatous disease
    • 1:CAS:528:DyaK28Xlt1Kku7k%3D 8781442
    • M Aoshima H Nunoi M Shimazu S Shimizu O Tatsuzawa, et al. 1996 Two-exon skipping due to a point mutation in p67-phox-deficient chronic granulomatous disease Blood 88 1841 1845 1:CAS:528:DyaK28Xlt1Kku7k%3D 8781442
    • (1996) Blood , vol.88 , pp. 1841-1845
    • Aoshima, M.1    Nunoi, H.2    Shimazu, M.3    Shimizu, S.4    Tatsuzawa, O.5
  • 2
    • 33746354005 scopus 로고    scopus 로고
    • NF1 mRNA biogenesis: Effect of the genomic milieu in splicing regulation of the NF1 exon 37 region
    • DOI 10.1016/j.febslet.2006.07.018, PII S0014579306008489
    • M Baralle N Skoko A Knezevich L De Conti D Motti, et al. 2006 NF1 mRNA biogenesis: effect of the genomic milieu in splicing regulation of the NF1 exon 37 region FEBS Lett 580 4449 4456 10.1016/j.febslet.2006.07.018 1:CAS:528:DC%2BD28Xns12lsb0%3D 16870183 (Pubitemid 44118266)
    • (2006) FEBS Letters , vol.580 , Issue.18 , pp. 4449-4456
    • Baralle, M.1    Skoko, N.2    Knezevich, A.3    De Conti, L.4    Motti, D.5    Bhuvanagiri, M.6    Baralle, D.7    Buratti, E.8    Baralle, F.E.9
  • 3
    • 5344280431 scopus 로고    scopus 로고
    • Genetically altered mice to evaluate glutathione homeostasis in health and disease
    • DOI 10.1016/j.freeradbiomed.2004.06.040, PII S0891584904005349
    • TP Dalton Y Chen SN Schneider DW Nebert HG Shertzer 2004 Genetically altered mice to evaluate glutathione homeostasis in health and disease Free Radic Biol Med 37 1511 1526 10.1016/j.freeradbiomed.2004.06.040 1:CAS:528:DC%2BD2cXotlWgs74%3D 15477003 (Pubitemid 39349798)
    • (2004) Free Radical Biology and Medicine , vol.37 , Issue.10 , pp. 1511-1526
    • Dalton, T.P.1    Chen, Y.2    Schneider, S.N.3    Nebert, D.W.4    Shertzer, H.G.5
  • 4
    • 0028986045 scopus 로고
    • Siblings with γ-glutamyltransferase deficiency
    • 10.1007/BF00711381 1:STN:280:DyaK2MzkvFWntw%3D%3D 7623451
    • JW Hammond M Potter B Wilcken R Truscott 1995 Siblings with γ-glutamyltransferase deficiency J Inherit Metab Dis 18 82 83 10.1007/BF00711381 1:STN:280:DyaK2MzkvFWntw%3D%3D 7623451
    • (1995) J Inherit Metab Dis , vol.18 , pp. 82-83
    • Hammond, J.W.1    Potter, M.2    Wilcken, B.3    Truscott, R.4
  • 6
    • 42149125439 scopus 로고    scopus 로고
    • The human gamma-glutamyltransferase gene family
    • 10.1007/s00439-008-0487-7 1:CAS:528:DC%2BD1cXks1GjtL4%3D 18357469
    • N Heisterkamp J Groffen D Warburton TP Sneddon 2008 The human gamma-glutamyltransferase gene family Hum Genet 123 321 332 10.1007/s00439-008- 0487-7 1:CAS:528:DC%2BD1cXks1GjtL4%3D 18357469
    • (2008) Hum Genet , vol.123 , pp. 321-332
    • Heisterkamp, N.1    Groffen, J.2    Warburton, D.3    Sneddon, T.P.4
  • 7
    • 13844266212 scopus 로고    scopus 로고
    • Two Japanese brothers with hereditary γ-glutamyl transpeptidase deficiency
    • DOI 10.1007/s10545-005-4417-8
    • M Iida T Yasuhara H Mochizuki H Takakura T Yanagisawa, et al. 2005 Two Japanese brothers with hereditary γ-glutamyl transpeptidase deficiency J Inherit Metab Dis 28 49 55 10.1007/s10545-005-4417-8 1:STN:280: DC%2BD2M%2Fnt1OltQ%3D%3D 15702405 (Pubitemid 40253983)
    • (2005) Journal of Inherited Metabolic Disease , vol.28 , Issue.1 , pp. 49-55
    • Iida, M.1    Yasuhara, T.2    Mochizuki, H.3    Takakura, H.4    Yanagisawa, T.5    Kubo, H.6
  • 8
    • 0027467423 scopus 로고
    • Significance of Arg-107 and Glu-108 in the catalytic mechanism of human γ-glutamyl transpeptidase. Identification by site-directed mutagenesis
    • 1:CAS:528:DyaK3sXhvVKrtbk%3D 8095045
    • Y Ikeda J Fujii N Taniguchi 1993 Significance of Arg-107 and Glu-108 in the catalytic mechanism of human γ-glutamyl transpeptidase. Identification by site-directed mutagenesis J Biol Chem 268 3980 3985 1:CAS:528: DyaK3sXhvVKrtbk%3D 8095045
    • (1993) J Biol Chem , vol.268 , pp. 3980-3985
    • Ikeda, Y.1    Fujii, J.2    Taniguchi, N.3
  • 9
    • 0038336909 scopus 로고    scopus 로고
    • Reversible skeletal abnormalities in γ-glutamyl transpeptidase-deficient mice
    • DOI 10.1210/en.2002-0071
    • R Levasseur R Barrios F Elefteriou DA Glass 2nd MW Lieberman, et al. 2003 Reversible skeletal abnormalities in γ-glutamyl transpeptidase-deficient mice Endocrinology 144 2761 2764 10.1210/en.2002-0071 1:CAS:528: DC%2BD3sXkvF2ks7c%3D 12810527 (Pubitemid 36819873)
    • (2003) Endocrinology , vol.144 , Issue.7 , pp. 2761-2764
    • Levasseur, R.1    Barrios, R.2    Elefteriou, F.3    Glass II, D.A.4    Lieberman, M.W.5    Karsenty, G.6
  • 10
    • 0028973214 scopus 로고
    • γ-Glutamyl transpeptidase. What does the organization and expression of a multipromoter gene tell us about its functions?
    • 1:CAS:528:DyaK28XktVynsA%3D%3D 7485380
    • MW Lieberman R Barrios BZ Carter GM Habib RM Lebovitz, et al. 1995 γ-Glutamyl transpeptidase. What does the organization and expression of a multipromoter gene tell us about its functions? Am J Pathol 147 1175 1185 1:CAS:528:DyaK28XktVynsA%3D%3D 7485380
    • (1995) Am J Pathol , vol.147 , pp. 1175-1185
    • Lieberman, M.W.1    Barrios, R.2    Carter, B.Z.3    Habib, G.M.4    Lebovitz, R.M.5
  • 12
    • 0041630821 scopus 로고    scopus 로고
    • Skeletal dysplasias caused by a disruption of skeletal patterning and endochondral ossification
    • DOI 10.1034/j.1399-0004.2003.00046.x
    • B Newman GA Wallis 2003 Skeletal dysplasias caused by a disruption of skeletal patterning and endochondral ossification Clin Genet 63 241 251 10.1034/j.1399-0004.2003.00046.x 1:STN:280:DC%2BD3s3gtlaitw%3D%3D 12702153 (Pubitemid 36949931)
    • (2003) Clinical Genetics , vol.63 , Issue.4 , pp. 241-251
    • Newman, B.1    Wallis, G.A.2
  • 13
    • 34247868881 scopus 로고    scopus 로고
    • Inborn errors in the metabolism of glutathione
    • 10.1186/1750-1172-2-16 17397529
    • E Ristoff A Larsson 2007 Inborn errors in the metabolism of glutathione Orphanet J Rare Dis 2 16 10.1186/1750-1172-2-16 17397529
    • (2007) Orphanet J Rare Dis , vol.2 , pp. 16
    • Ristoff, E.1    Larsson, A.2
  • 14
    • 0034646078 scopus 로고    scopus 로고
    • Accumulation of DNA damage in the organs of mice deficient in γ-glutamyltranspeptidase
    • 1:CAS:528:DC%2BD3cXitFKrtro%3D 10751614
    • E Rojas M Valverde SV Kala G Kala MW Lieberman 2000 Accumulation of DNA damage in the organs of mice deficient in γ-glutamyltranspeptidase Mutat Res 447 305 316 1:CAS:528:DC%2BD3cXitFKrtro%3D 10751614
    • (2000) Mutat Res , vol.447 , pp. 305-316
    • Rojas, E.1    Valverde, M.2    Kala, S.V.3    Kala, G.4    Lieberman, M.W.5
  • 15
    • 0034943543 scopus 로고    scopus 로고
    • 4 synthesis in vivo and attenuation of the acute inflammatory response
    • DOI 10.1128/MCB.21.16.5389-5395.2001
    • 4 synthesis in vivo and attenuation of the acute inflammatory response Mol Cell Biol 21 5389 5395 10.1128/MCB.21.16.5389-5395.2001 1:CAS:528:DC%2BD3MXlslOjtLw%3D 11463821 (Pubitemid 32702443)
    • (2001) Molecular and Cellular Biology , vol.21 , Issue.16 , pp. 5389-5395
    • Shi, Z.-Z.1    Han, B.2    Habib, G.M.3    Matzuk, M.M.4    Lieberman, M.W.5
  • 16
    • 0019888435 scopus 로고
    • γ-Glutamyl transpeptidase: Catalytic, structural and functional aspects
    • 10.1007/BF00232585 1:CAS:528:DyaL38XjtVCnsQ%3D%3D 6118826
    • SS Tate A Meister 1981 γ-Glutamyl transpeptidase: catalytic, structural and functional aspects Mol Cell Biochem 39 357 368 10.1007/BF00232585 1:CAS:528:DyaL38XjtVCnsQ%3D%3D 6118826
    • (1981) Mol Cell Biochem , vol.39 , pp. 357-368
    • Tate, S.S.1    Meister, A.2
  • 17
    • 57849150788 scopus 로고    scopus 로고
    • Alternative splicing and disease
    • 1:CAS:528:DC%2BD1cXhsFClsrbP 18992329
    • J Tazi N Bakkour S Stamm 2009 Alternative splicing and disease Biochim Biophys Acta 1792 14 26 1:CAS:528:DC%2BD1cXhsFClsrbP 18992329
    • (2009) Biochim Biophys Acta , vol.1792 , pp. 14-26
    • Tazi, J.1    Bakkour, N.2    Stamm, S.3
  • 18
    • 0033806989 scopus 로고    scopus 로고
    • γ-Glutamyltranspeptidase-deficient knockout mice as a model to study the relationship between glutathione status, mitochondrial function, and cellular function
    • 10.1053/jhep.2000.17913 1:CAS:528:DC%2BD3cXnslemsLY%3D 11003618
    • Y Will KA Fischer RA Horton RS Kaetzel MK Brown, et al. 2000 γ-Glutamyltranspeptidase-deficient knockout mice as a model to study the relationship between glutathione status, mitochondrial function, and cellular function Hepatology 32 740 749 10.1053/jhep.2000.17913 1:CAS:528: DC%2BD3cXnslemsLY%3D 11003618
    • (2000) Hepatology , vol.32 , pp. 740-749
    • Will, Y.1    Fischer, K.A.2    Horton, R.A.3    Kaetzel, R.S.4    Brown, M.K.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.