메뉴 건너뛰기




Volumn 86, Issue 1-2, 2005, Pages 179-187

Homozygous carnitine palmitoyltransferase 1a (liver isoform) deficiency is lethal in the mouse

Author keywords

Carnitine palmitoyltransferase 1; Gene targeting; Inborn error of metabolism; Lethal trait; Mouse model

Indexed keywords

ACYLTRANSFERASE; CARNITINE PALMITOYLTRANSFERASE 1A; FATTY ACID; GLUCOSE; MESSENGER RNA; UNCLASSIFIED DRUG;

EID: 26244431937     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2005.07.021     Document Type: Article
Times cited : (58)

References (34)
  • 1
    • 0030663919 scopus 로고    scopus 로고
    • Mouse white adipocytes and 3T3-L1 cells display an anomalous of carnitine palmitoyltransferase (CPT) 1 isoform expression during differentiation inter-tissue and inter-species expression of CPT I and CPT II enzymes
    • N.F. Brown, J.K. Hill, V. Esser, J.L. Kirkland, B.E. Corkey, D.W. Foster, and J.D. McGarry Mouse white adipocytes and 3T3-L1 cells display an anomalous of carnitine palmitoyltransferase (CPT) 1 isoform expression during differentiation inter-tissue and inter-species expression of CPT I and CPT II enzymes Biochem. J. 327 1997 225 231
    • (1997) Biochem. J. , vol.327 , pp. 225-231
    • Brown, N.F.1    Hill, J.K.2    Esser, V.3    Kirkland, J.L.4    Corkey, B.E.5    Foster, D.W.6    McGarry, J.D.7
  • 2
    • 0031794030 scopus 로고    scopus 로고
    • Expression and possible role of muscle-type carnitine palmitoyltransferase I during sperm development in the rat
    • S.H. Adams, V. Esser, N.F. Brown, N.H. Ing, L. Johnson, D.W. Foster, and J.D. McGarry Expression and possible role of muscle-type carnitine palmitoyltransferase I during sperm development in the rat Biol. Reprod. 59 1998 1399 1405
    • (1998) Biol. Reprod. , vol.59 , pp. 1399-1405
    • Adams, S.H.1    Esser, V.2    Brown, N.F.3    Ing, N.H.4    Johnson, L.5    Foster, D.W.6    McGarry, J.D.7
  • 4
    • 0034717940 scopus 로고    scopus 로고
    • Fatty acid import into mitochondria
    • J. Kerner, and C. Hoppel Fatty acid import into mitochondria Biochim. Biophys. Acta 1486 2000 1 17
    • (2000) Biochim. Biophys. Acta , vol.1486 , pp. 1-17
    • Kerner, J.1    Hoppel, C.2
  • 8
    • 1942489280 scopus 로고    scopus 로고
    • Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency
    • M.J. Bennett, L.R. Boriacka, S. Narayana, S.L. Rutledge, and M.L. Raff Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency Mol. Genet. Metab. 82 2004 59 63
    • (2004) Mol. Genet. Metab. , vol.82 , pp. 59-63
    • Bennett, M.J.1    Boriacka, L.R.2    Narayana, S.3    Rutledge, S.L.4    Raff, M.L.5
  • 9
    • 0036062553 scopus 로고    scopus 로고
    • Strategies for the diagnosis of mitochondrial fatty acid β-oxidation disorders
    • K.G. Sim, J. Hammond, and B. Wilcken Strategies for the diagnosis of mitochondrial fatty acid β-oxidation disorders Clin. Chim. Acta 323 2002 37 58
    • (2002) Clin. Chim. Acta , vol.323 , pp. 37-58
    • Sim, K.G.1    Hammond, J.2    Wilcken, B.3
  • 10
    • 4644297825 scopus 로고    scopus 로고
    • Successful long-term treatment of hepatic carnitine palmitoyltransferase I deficiency and a novel mutation
    • J.M. Stoler, M.A. Sabry, C. Hanley, C.L. Hoppel, and V.E. Shih Successful long-term treatment of hepatic carnitine palmitoyltransferase I deficiency and a novel mutation J. Inherit. Metab. Dis. 27 2004 679 684
    • (2004) J. Inherit. Metab. Dis. , vol.27 , pp. 679-684
    • Stoler, J.M.1    Sabry, M.A.2    Hanley, C.3    Hoppel, C.L.4    Shih, V.E.5
  • 12
    • 0015246254 scopus 로고
    • A rapid banding technique for human chromosomes
    • M. Seabright A rapid banding technique for human chromosomes Lancet 2 1971 971 972
    • (1971) Lancet , vol.2 , pp. 971-972
    • Seabright, M.1
  • 13
    • 0022446922 scopus 로고
    • Cytogenic analysis using quantitative, high sensitivity, fluorescence hybridization
    • D. Pinkel, T. Straume, and J.W. Gray Cytogenic analysis using quantitative, high sensitivity, fluorescence hybridization Proc. Natl. Acad. Sci. USA 83 1986 2934 2938
    • (1986) Proc. Natl. Acad. Sci. USA , vol.83 , pp. 2934-2938
    • Pinkel, D.1    Straume, T.2    Gray, J.W.3
  • 14
    • 0028446014 scopus 로고
    • The mapping of transgenes by fluorescence in situ hybridization on G-banded mouse chromosomes
    • Y.P. Shi, T.T. Huang, E.J. Carlson, and C.J. Epstein The mapping of transgenes by fluorescence in situ hybridization on G-banded mouse chromosomes Mamm. Genome 5 1994 337 341
    • (1994) Mamm. Genome , vol.5 , pp. 337-341
    • Shi, Y.P.1    Huang, T.T.2    Carlson, E.J.3    Epstein, C.J.4
  • 15
    • 11444254011 scopus 로고    scopus 로고
    • Differential induction of genes in liver and brown adipose tissue regulated by peroxisome proliferator-activated receptor-alpha during fasting and cold exposure in acyl-CoA dehydrogenase-deficient mice
    • E.S. Goetzman, L. Tian, and P.A. Wood Differential induction of genes in liver and brown adipose tissue regulated by peroxisome proliferator-activated receptor-alpha during fasting and cold exposure in acyl-CoA dehydrogenase- deficient mice Mol. Genet. Metab. 84 1 2005 39 47
    • (2005) Mol. Genet. Metab. , vol.84 , Issue.1 , pp. 39-47
    • Goetzman, E.S.1    Tian, L.2    Wood, P.A.3
  • 16
    • 0032483331 scopus 로고    scopus 로고
    • The malonyl-CoA-sensitive form of carnitine palmitoyltransferase is not localized exclusively in the outer membrane of rat liver mitochondria
    • C.L. Hoppel, J. Kerner, P. Turaly, J. Turkaly, and B. Tandler The malonyl-CoA-sensitive form of carnitine palmitoyltransferase is not localized exclusively in the outer membrane of rat liver mitochondria J. Biol. Chem. 273 1998 23495 23503
    • (1998) J. Biol. Chem. , vol.273 , pp. 23495-23503
    • Hoppel, C.L.1    Kerner, J.2    Turaly, P.3    Turkaly, J.4    Tandler, B.5
  • 17
    • 4444277089 scopus 로고    scopus 로고
    • Phosphorylation of rat liver mitochondrial carnitine palmitoyltransferase-I (CPT-I): Effect on the enzymes' kinetic properties
    • J. Kerner, A.M. Distler, P. Minkler, W. Parland, S.M. Peterman, and C.L. Hoppel Phosphorylation of rat liver mitochondrial carnitine palmitoyltransferase-I (CPT-I): effect on the enzymes' kinetic properties J. Biol. Chem. 279 2004 41104 41113
    • (2004) J. Biol. Chem. , vol.279 , pp. 41104-41113
    • Kerner, J.1    Distler, A.M.2    Minkler, P.3    Parland, W.4    Peterman, S.M.5    Hoppel, C.L.6
  • 18
    • 0032211811 scopus 로고    scopus 로고
    • Abnormal nonshivering thermogenesis in mice with inherited defects of fatty acid oxidation
    • C. Guerra, R.A. Koza, K. Walsh, D.M. Kurtz, P.A. Wood, and L.P. Kozak Abnormal nonshivering thermogenesis in mice with inherited defects of fatty acid oxidation J. Clin. Invest. 102 1998 1724 1731
    • (1998) J. Clin. Invest. , vol.102 , pp. 1724-1731
    • Guerra, C.1    Koza, R.A.2    Walsh, K.3    Kurtz, D.M.4    Wood, P.A.5    Kozak, L.P.6
  • 19
    • 4043162795 scopus 로고    scopus 로고
    • Disrupted blastocoele formation reveals a critical developmental role for long-chain acyl-CoA dehydrogenase
    • P.S. Berger, and P.A. Wood Disrupted blastocoele formation reveals a critical developmental role for long-chain acyl-CoA dehydrogenase Mol. Genet. Metab. 82 2004 266 272
    • (2004) Mol. Genet. Metab. , vol.82 , pp. 266-272
    • Berger, P.S.1    Wood, P.A.2
  • 20
    • 0019014546 scopus 로고
    • Effects of colcemid on cavitation during mouse blastocoele formation
    • L.M. Wiley, and M.A. Eglitis Effects of colcemid on cavitation during mouse blastocoele formation Exp. Cell Res. 127 1980 89 101
    • (1980) Exp. Cell Res. , vol.127 , pp. 89-101
    • Wiley, L.M.1    Eglitis, M.A.2
  • 21
    • 0021123756 scopus 로고
    • Cavitation in the mouse preimplantation embryo: Na/K-ATPase and the origin of nascent blastocoele fluid
    • L.M. Wiley Cavitation in the mouse preimplantation embryo: Na/K-ATPase and the origin of nascent blastocoele fluid Dev. Biol. 105 1984 330 342
    • (1984) Dev. Biol. , vol.105 , pp. 330-342
    • Wiley, L.M.1
  • 22
    • 0025173690 scopus 로고
    • Current topic: Transport mechanisms in preimplantation mammalian embryos
    • D.J. Benos, and R.S. Balaban Current topic: transport mechanisms in preimplantation mammalian embryos Placenta 11 1990 373 380
    • (1990) Placenta , vol.11 , pp. 373-380
    • Benos, D.J.1    Balaban, R.S.2
  • 23
    • 0028091713 scopus 로고
    • Use of a selective inhibitor of liver carnitine palmitoyltransferase I (CPT I) allows quantification of its contribution to total CPT I activity in rat heart. Evidence that the dominant cardiac CPT I isoform is identical to the skeletal muscle enzyme
    • B.C. Weis, A.T. Cowan, N. Brown, D.W. Foster, and J.D. McGarry Use of a selective inhibitor of liver carnitine palmitoyltransferase I (CPT I) allows quantification of its contribution to total CPT I activity in rat heart. Evidence that the dominant cardiac CPT I isoform is identical to the skeletal muscle enzyme J. Biol. Chem. 269 1994 26443 26448
    • (1994) J. Biol. Chem. , vol.269 , pp. 26443-26448
    • Weis, B.C.1    Cowan, A.T.2    Brown, N.3    Foster, D.W.4    McGarry, J.D.5
  • 24
    • 0028238880 scopus 로고
    • Rat heart expresses two isoforms of mitochondrial carnitine palmitoyltransferase 1. the minor component is identical to the liver enzyme
    • B.C. Weis, V. Esser, D.W. Foster, and J.D. McGarry Rat heart expresses two isoforms of mitochondrial carnitine palmitoyltransferase 1. The minor component is identical to the liver enzyme J. Biol. Chem. 269 1994 18712 18715
    • (1994) J. Biol. Chem. , vol.269 , pp. 18712-18715
    • Weis, B.C.1    Esser, V.2    Foster, D.W.3    McGarry, J.D.4
  • 25
    • 0028963953 scopus 로고
    • Developmental changes in carnitine palmitoyltransferases I and II gene expression in intestine and liver of suckling rats
    • G. Asins, D. Serra, G. Arias, and F.G. Hegardt Developmental changes in carnitine palmitoyltransferases I and II gene expression in intestine and liver of suckling rats Biochem. J. 306 1995 379 384
    • (1995) Biochem. J. , vol.306 , pp. 379-384
    • Asins, G.1    Serra, D.2    Arias, G.3    Hegardt, F.G.4
  • 26
    • 0028943364 scopus 로고
    • Mitochondrial carnitine palmitoyltransferase I isoform switching in the developing rat heart
    • N.F. Brown, B.C. Weis, J.E. Husti, D.W. Foster, and J.D. McGarry Mitochondrial carnitine palmitoyltransferase I isoform switching in the developing rat heart J. Biol. Chem. 270 1995 8952 8957
    • (1995) J. Biol. Chem. , vol.270 , pp. 8952-8957
    • Brown, N.F.1    Weis, B.C.2    Husti, J.E.3    Foster, D.W.4    McGarry, J.D.5
  • 27
    • 0029862741 scopus 로고    scopus 로고
    • Expression of a cDNA isolated from rat brown adipose tissue and heart identifies the product as the muscle isoform of carnitine palmitoyltransferase I (M-CPT I). M-CPT I is the predominant CPT I isoform expressed in both white (epididymal) and brown adipocytes
    • V. Esser, N.F. Brown, A.T. Cowan, D.W. Foster, and J.D. McGarry Expression of a cDNA isolated from rat brown adipose tissue and heart identifies the product as the muscle isoform of carnitine palmitoyltransferase I (M-CPT I). M-CPT I is the predominant CPT I isoform expressed in both white (epididymal) and brown adipocytes J. Biol. Chem. 271 1996 6972 6977
    • (1996) J. Biol. Chem. , vol.271 , pp. 6972-6977
    • Esser, V.1    Brown, N.F.2    Cowan, A.T.3    Foster, D.W.4    McGarry, J.D.5
  • 28
    • 0034624069 scopus 로고    scopus 로고
    • Identification of positive and negative determinants of malonyl-CoA sensitivity and carnitine affinity within the amino termini of rat liver and muscle-type carnitine palmitoyl transferase I
    • V.N. Jackson, V.A. Zammit, and N.T. Price Identification of positive and negative determinants of malonyl-CoA sensitivity and carnitine affinity within the amino termini of rat liver and muscle-type carnitine palmitoyl transferase I J. Biol. Chem. 275 2000 38410 38416
    • (2000) J. Biol. Chem. , vol.275 , pp. 38410-38416
    • Jackson, V.N.1    Zammit, V.A.2    Price, N.T.3
  • 29
    • 0034235417 scopus 로고    scopus 로고
    • Reconstitution of purified, active and malonyl-CoA-sensitive rat liver carnitine palmitoyltransferase I: Relationship between membrane environment and malonyl-CoA sensitivity
    • J.D. McGarry, and N.F. Brown Reconstitution of purified, active and malonyl-CoA-sensitive rat liver carnitine palmitoyltransferase I: relationship between membrane environment and malonyl-CoA sensitivity Biochem. J. 349 2000 179 187
    • (2000) Biochem. J. , vol.349 , pp. 179-187
    • McGarry, J.D.1    Brown, N.F.2
  • 30
    • 0031714456 scopus 로고    scopus 로고
    • Sex-restricted non-Mendelian inheritance of mouse chromosome 11 in the offspring of crosses between C57BL/6J and (C57BL/6J × DBA/2J) F1 mice
    • J. Shendure, J.A. Melo, K. Pociask, R. Derr, and L.M. Silver Sex-restricted non-Mendelian inheritance of mouse chromosome 11 in the offspring of crosses between C57BL/6J and (C57BL/6J × DBA/2J) F1 mice Mamm. Genome 9 1998 812 815
    • (1998) Mamm. Genome , vol.9 , pp. 812-815
    • Shendure, J.1    Melo, J.A.2    Pociask, K.3    Derr, R.4    Silver, L.M.5
  • 31
    • 0034212334 scopus 로고    scopus 로고
    • Segregation distortion of mouse t haplotypes
    • J. Schimenti Segregation distortion of mouse t haplotypes Trends Genet. 6 2000 240 243
    • (2000) Trends Genet. , vol.6 , pp. 240-243
    • Schimenti, J.1
  • 33
    • 0031904222 scopus 로고    scopus 로고
    • Chromosomal locations of the mouse fatty acid oxidation genes Cpt1a, Cpt1b, Cpt2, Acadvl, and metabolically related Crat gene
    • K.B. Cox, K.R. Johnson, and P.A. Wood Chromosomal locations of the mouse fatty acid oxidation genes Cpt1a, Cpt1b, Cpt2, Acadvl, and metabolically related Crat gene Mamm. Genome 9 1998 608 610
    • (1998) Mamm. Genome , vol.9 , pp. 608-610
    • Cox, K.B.1    Johnson, K.R.2    Wood, P.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.