메뉴 건너뛰기




Volumn 94, Issue 4, 2008, Pages 422-427

CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency

Author keywords

Expanded newborn screening; Fatty acid oxidation defect; Genotype phenotype correlation; Molecular diagnostics

Indexed keywords

ARTICLE; CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; ENZYME ANALYSIS; ENZYME DEFICIENCY; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; GENOME ANALYSIS; HUMAN; INFANT; LABORATORY TEST; LETHAL GENE; MALE; MUTATIONAL ANALYSIS; PRIORITY JOURNAL;

EID: 46749130057     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2008.05.002     Document Type: Article
Times cited : (52)

References (35)
  • 3
    • 0027302901 scopus 로고
    • Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients
    • Taroni F., Verderio E., Dworzak F., Willems P.J., Cavadini P., and DiDonato S. Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients. Nat. Genet. 4 (1993) 314-320
    • (1993) Nat. Genet. , vol.4 , pp. 314-320
    • Taroni, F.1    Verderio, E.2    Dworzak, F.3    Willems, P.J.4    Cavadini, P.5    DiDonato, S.6
  • 4
    • 0242497007 scopus 로고    scopus 로고
    • Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review
    • Sigauke E., Rakheja D., Kitson K., and Bennett M.J. Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review. Lab. Invest. 83 (2003) 1543-1554
    • (2003) Lab. Invest. , vol.83 , pp. 1543-1554
    • Sigauke, E.1    Rakheja, D.2    Kitson, K.3    Bennett, M.J.4
  • 5
    • 33750624816 scopus 로고    scopus 로고
    • Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency
    • Isackson P.J., Bennett M.J., and Vladutiu G.D. Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency. Mol. Genet. Metab. 89 (2006) 323-331
    • (2006) Mol. Genet. Metab. , vol.89 , pp. 323-331
    • Isackson, P.J.1    Bennett, M.J.2    Vladutiu, G.D.3
  • 6
    • 0024503204 scopus 로고
    • Regulation of ketogenesis and the renaissance of carnitine palmitoyltransferase
    • McGarry J., Woeltje K., Kuwajima M., and Foster D. Regulation of ketogenesis and the renaissance of carnitine palmitoyltransferase. Diabetes/Metab. Rev. 5 (1989) 271-284
    • (1989) Diabetes/Metab. Rev. , vol.5 , pp. 271-284
    • McGarry, J.1    Woeltje, K.2    Kuwajima, M.3    Foster, D.4
  • 7
    • 0000921948 scopus 로고
    • Lethal carnitine palmitoyltransferase deficiency in newborns: a molecular genetic study
    • Taroni F., Gellera C., and Cavadini P. Lethal carnitine palmitoyltransferase deficiency in newborns: a molecular genetic study. Am. J. Hum. Genet. 55 (1994) A245
    • (1994) Am. J. Hum. Genet. , vol.55
    • Taroni, F.1    Gellera, C.2    Cavadini, P.3
  • 10
    • 0036842527 scopus 로고    scopus 로고
    • Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with compound heterozygosity for different protein truncation mutations
    • Vladutiu G.D., Quackenbush E.J., Hainline B.E., Albers S., Smail D.S., and Bennett M.J. Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with compound heterozygosity for different protein truncation mutations. J. Pediatr. 141 (2002) 734-736
    • (2002) J. Pediatr. , vol.141 , pp. 734-736
    • Vladutiu, G.D.1    Quackenbush, E.J.2    Hainline, B.E.3    Albers, S.4    Smail, D.S.5    Bennett, M.J.6
  • 13
    • 7144227283 scopus 로고    scopus 로고
    • Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency-functional analysis and association with polymorphic haplotypes and two clinical phenotypes
    • Wataya K., Akanuma J., Cavadini P., Aoki Y., Kure S., Invernizzi F., Yoshida I., Kira J., Taroni F., Matsubara Y., and Narisawa K. Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency-functional analysis and association with polymorphic haplotypes and two clinical phenotypes. Hum. Mutat. 11 (1998) 377-386
    • (1998) Hum. Mutat. , vol.11 , pp. 377-386
    • Wataya, K.1    Akanuma, J.2    Cavadini, P.3    Aoki, Y.4    Kure, S.5    Invernizzi, F.6    Yoshida, I.7    Kira, J.8    Taroni, F.9    Matsubara, Y.10    Narisawa, K.11
  • 14
    • 33748796871 scopus 로고    scopus 로고
    • Crystal structures of murine carnitine acetyltransferase in ternary complexes with its substrates
    • Hsiao Y.-S., Jogl G., and Tong L. Crystal structures of murine carnitine acetyltransferase in ternary complexes with its substrates. J. Biol. Chem. 281 (2006) 28480-28487
    • (2006) J. Biol. Chem. , vol.281 , pp. 28480-28487
    • Hsiao, Y.-S.1    Jogl, G.2    Tong, L.3
  • 16
    • 0036829095 scopus 로고    scopus 로고
    • Identification by mutagenesis of a conserved glutamate (Glu487) residue important for catalytic activity in rat liver carnitine palmitoyltransferase II
    • Zheng G., Dai J., and Woldegiorgis G. Identification by mutagenesis of a conserved glutamate (Glu487) residue important for catalytic activity in rat liver carnitine palmitoyltransferase II. J. Biol. Chem. 277 (2002) 42219-42223
    • (2002) J. Biol. Chem. , vol.277 , pp. 42219-42223
    • Zheng, G.1    Dai, J.2    Woldegiorgis, G.3
  • 17
    • 0031590253 scopus 로고    scopus 로고
    • The conserved serine-threonine-serine motif of the carnitine acyltransferases is involved in carnitine binding and transition-state stabilization: a site-directed mutagenesis study
    • Cronin C.N. The conserved serine-threonine-serine motif of the carnitine acyltransferases is involved in carnitine binding and transition-state stabilization: a site-directed mutagenesis study. Biochem. Biophys. Res. Commun. 238 (1997) 784-789
    • (1997) Biochem. Biophys. Res. Commun. , vol.238 , pp. 784-789
    • Cronin, C.N.1
  • 18
  • 19
    • 33745198879 scopus 로고    scopus 로고
    • Crystal structure of rat carnitine palmitoyltransferase II (CPT-II)
    • Hsiao Y.-S., Jogl G., and Tong L. Crystal structure of rat carnitine palmitoyltransferase II (CPT-II). Biochem. Biophys. Res. Commun. 346 (2006) 974-980
    • (2006) Biochem. Biophys. Res. Commun. , vol.346 , pp. 974-980
    • Hsiao, Y.-S.1    Jogl, G.2    Tong, L.3
  • 20
    • 34247586652 scopus 로고    scopus 로고
    • Severe infantile type of carnitine palmitoyltransferase II (CPT II) deficiency due to homozygous R503C mutation
    • Spiegel R., Shaag A., Gutman A., Korman S.H., Saada A., Elpeleg O., and Shalev S.A. Severe infantile type of carnitine palmitoyltransferase II (CPT II) deficiency due to homozygous R503C mutation. J. Inherit. Metab. Dis. 30 (2007) 266
    • (2007) J. Inherit. Metab. Dis. , vol.30 , pp. 266
    • Spiegel, R.1    Shaag, A.2    Gutman, A.3    Korman, S.H.4    Saada, A.5    Elpeleg, O.6    Shalev, S.A.7
  • 21
    • 0037428082 scopus 로고    scopus 로고
    • Crystal structure of carnitine acetyltransferase and implications for the catalytic mechanism and fatty acid transport
    • Jogl G., and Tong L. Crystal structure of carnitine acetyltransferase and implications for the catalytic mechanism and fatty acid transport. Cell 112 (2003) 113-122
    • (2003) Cell , vol.112 , pp. 113-122
    • Jogl, G.1    Tong, L.2
  • 23
    • 0037713473 scopus 로고    scopus 로고
    • Molecular basis of CPT II deficiency: identification of 9 novel mutations
    • Ijlst L., Hendriksen A.G., Ruiter J.P.N., and Wanders R.J. Molecular basis of CPT II deficiency: identification of 9 novel mutations. J. Inherit. Metab. Dis. 22 Suppl. 1 (1999) A53
    • (1999) J. Inherit. Metab. Dis. , vol.22 , Issue.SUPPL. 1
    • Ijlst, L.1    Hendriksen, A.G.2    Ruiter, J.P.N.3    Wanders, R.J.4
  • 26
    • 0031714426 scopus 로고    scopus 로고
    • Identification of four novel mutations in patients with carnitine palmitoyltransferase II (CPT II) deficiency
    • Yang B.Z., Ding J.H., Dewese T., and Roe D. Identification of four novel mutations in patients with carnitine palmitoyltransferase II (CPT II) deficiency. Mol. Genet. Metab. 64 (1998) 229-236
    • (1998) Mol. Genet. Metab. , vol.64 , pp. 229-236
    • Yang, B.Z.1    Ding, J.H.2    Dewese, T.3    Roe, D.4
  • 29
    • 0000829244 scopus 로고    scopus 로고
    • Carnitine palmitoyltransferase II deficiency: three novel mutations
    • Wieser T., Deschauer M., and Zierz S. Carnitine palmitoyltransferase II deficiency: three novel mutations. Ann. Neurol. 42 (1997) 414
    • (1997) Ann. Neurol. , vol.42 , pp. 414
    • Wieser, T.1    Deschauer, M.2    Zierz, S.3
  • 31
    • 46749110481 scopus 로고    scopus 로고
    • B.Z. Yang, J.H. Ding, D. Roe, F. Demaugre, M. Brivet, C.R. Roe, Carnitine palmitoyltransferase II deficiency: clinical forms and mutations, in: Proceedings, International Congress of Inborn Errors of Metabolism Vienna, Austria, May 21-25 (1997) P202.
    • B.Z. Yang, J.H. Ding, D. Roe, F. Demaugre, M. Brivet, C.R. Roe, Carnitine palmitoyltransferase II deficiency: clinical forms and mutations, in: Proceedings, International Congress of Inborn Errors of Metabolism Vienna, Austria, May 21-25 (1997) P202.
  • 33
    • 0033025040 scopus 로고    scopus 로고
    • Novel mutations associated with carnitine palmitoyltransferase II deficiency
    • Taggart R.T., Smail D., Apolito C., and Vladutiu G.D. Novel mutations associated with carnitine palmitoyltransferase II deficiency. Hum. Mutat. 13 (1999) 210-220
    • (1999) Hum. Mutat. , vol.13 , pp. 210-220
    • Taggart, R.T.1    Smail, D.2    Apolito, C.3    Vladutiu, G.D.4
  • 34
    • 0034049796 scopus 로고    scopus 로고
    • Novel mutation in the CPT II gene in a child with periodic febrile myalgia and myoglobinuria
    • Bruno C., Bado M., Minetti C., Cordone G., and DiMauro S. Novel mutation in the CPT II gene in a child with periodic febrile myalgia and myoglobinuria. J. Child Neurol. 15 (2000) 390-393
    • (2000) J. Child Neurol. , vol.15 , pp. 390-393
    • Bruno, C.1    Bado, M.2    Minetti, C.3    Cordone, G.4    DiMauro, S.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.