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Volumn 7, Issue 1, 2013, Pages 82-87

Erratum: A novel mutation in the ABCA1 gene causing an atypical presentation of Tangier Disease (Journal of Clinical Lipidology (2013) 7 (82-87) DOI: 10.1016/j.jacl.2012.09.004);A novel mutation in the ABCA1 gene causing an atypical phenotype of Tangier disease

Author keywords

ABCA1 gene; Central nervous system; High density lipoprotein; Peripheral neuropathy; Tangier disease

Indexed keywords

ABC TRANSPORTER A1; VERY LOW DENSITY LIPOPROTEIN CHOLESTEROL;

EID: 84872941112     PISSN: 19332874     EISSN: 18764789     Source Type: Journal    
DOI: 10.1016/j.jacl.2013.04.005     Document Type: Erratum
Times cited : (22)

References (22)
  • 1
    • 0017384270 scopus 로고
    • High density lipoprotein as a protective factor against coronary heart disease. The Framingham Study
    • T. Gordon, W.P. Castelli, M.C. Hjortland, W.B. Kannel, and T.R. Dawber High density lipoprotein as a protective factor against coronary heart disease. The Framingham Study Am J Med 62 1977 707 714
    • (1977) Am J Med , vol.62 , pp. 707-714
    • Gordon, T.1    Castelli, W.P.2    Hjortland, M.C.3    Kannel, W.B.4    Dawber, T.R.5
  • 2
    • 33645422718 scopus 로고    scopus 로고
    • Role of ApoA-I, ABCA1, LCAT, and SR-BI in the biogenesis of HDL
    • V.I. Zannis, A. Chroni, and M. Krieger Role of ApoA-I, ABCA1, LCAT, and SR-BI in the biogenesis of HDL J Mol Med 84 2006 276 294
    • (2006) J Mol Med , vol.84 , pp. 276-294
    • Zannis, V.I.1    Chroni, A.2    Krieger, M.3
  • 3
    • 0033692757 scopus 로고    scopus 로고
    • Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes
    • S.M. Clee, J.J. Kastelein, and M. van Dam Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes J Clin Invest 106 2000 1263 1270
    • (2000) J Clin Invest , vol.106 , pp. 1263-1270
    • Clee, S.M.1    Kastelein, J.J.2    Van Dam, M.3
  • 4
    • 67649262236 scopus 로고    scopus 로고
    • The cell cholesterol exporter ABCA1 as a protector from cardiovascular disease and diabetes
    • C. Tang, and J.F. Oram The cell cholesterol exporter ABCA1 as a protector from cardiovascular disease and diabetes Biochim Biophys Acta 1791 2009 563 572
    • (2009) Biochim Biophys Acta , vol.1791 , pp. 563-572
    • Tang, C.1    Oram, J.F.2
  • 5
    • 0031956778 scopus 로고    scopus 로고
    • Familial HDL deficiency characterized by hypercatabolism of mature apoA-I but not proapoA-I
    • R. Batal, M. Tremblay, and L. Krimbou Familial HDL deficiency characterized by hypercatabolism of mature apoA-I but not proapoA-I Arterioscler Thromb Vasc Biol 18 1998 655 664
    • (1998) Arterioscler Thromb Vasc Biol , vol.18 , pp. 655-664
    • Batal, R.1    Tremblay, M.2    Krimbou, L.3
  • 6
    • 33750127491 scopus 로고    scopus 로고
    • Variations on a gene: Rare and common variants in ABCA1 and their impact on HDL cholesterol levels and atherosclerosis
    • L.R. Brunham, R.R. Singaraja, and M.R. Hayden Variations on a gene: rare and common variants in ABCA1 and their impact on HDL cholesterol levels and atherosclerosis Ann Rev Nutr 26 2006 105 129
    • (2006) Ann Rev Nutr , vol.26 , pp. 105-129
    • Brunham, L.R.1    Singaraja, R.R.2    Hayden, M.R.3
  • 8
    • 0021271659 scopus 로고
    • Clinical, biochemical, and genetic features in familial disorders of high density lipoprotein deficiency
    • E.J. Schaefer Clinical, biochemical, and genetic features in familial disorders of high density lipoprotein deficiency Arteriosclerosis 4 1984 303 322
    • (1984) Arteriosclerosis , vol.4 , pp. 303-322
    • Schaefer, E.J.1
  • 10
    • 60549087753 scopus 로고    scopus 로고
    • Multiple splice defects in ABCA1 cause low HDL-C in a family with hypoalphalipoproteinemia and premature coronary disease
    • 8;10:1
    • J. Rhyne, M.M. Mantaring, D.F. Gardner, and M. Miller Multiple splice defects in ABCA1 cause low HDL-C in a family with hypoalphalipoproteinemia and premature coronary disease BMC Med Genet 2009 8;10:1
    • (2009) BMC Med Genet
    • Rhyne, J.1    Mantaring, M.M.2    Gardner, D.F.3    Miller, M.4
  • 11
    • 77649184745 scopus 로고    scopus 로고
    • Multiple abnormally spliced ABCA1 mRNAs caused by a novel splice site mutation of ABCA1 gene in a patient with Tangier disease
    • L. Bocchi, L. Pisciotta, and T. Fasano Multiple abnormally spliced ABCA1 mRNAs caused by a novel splice site mutation of ABCA1 gene in a patient with Tangier disease Clin Chim Acta 411 2010 524 530
    • (2010) Clin Chim Acta , vol.411 , pp. 524-530
    • Bocchi, L.1    Pisciotta, L.2    Fasano, T.3
  • 12
    • 0034284918 scopus 로고    scopus 로고
    • Regulation of absorption and ABC1-mediated efflux of cholesterol by RXR heterodimers
    • J.J. Repa, S.D. Turley, and J.A. Lobaccaro Regulation of absorption and ABC1-mediated efflux of cholesterol by RXR heterodimers Science 289 2000 1524 1529
    • (2000) Science , vol.289 , pp. 1524-1529
    • Repa, J.J.1    Turley, S.D.2    Lobaccaro, J.A.3
  • 13
    • 46449116071 scopus 로고    scopus 로고
    • Coronary artery calcification compared with carotid intima-media thickness in the prediction of cardiovascular disease incidence: The Multi-Ethnic Study of Atherosclerosis (MESA)
    • A.R. Folsom, R.A. Kronmal, and R.C. Detrano Coronary artery calcification compared with carotid intima-media thickness in the prediction of cardiovascular disease incidence: the Multi-Ethnic Study of Atherosclerosis (MESA) Arch Intern Med 168 2008 1333 1339
    • (2008) Arch Intern Med , vol.168 , pp. 1333-1339
    • Folsom, A.R.1    Kronmal, R.A.2    Detrano, R.C.3
  • 14
    • 0037323130 scopus 로고    scopus 로고
    • Diagnosis of hereditary neuropathies in adult patients
    • D. Pareyson Diagnosis of hereditary neuropathies in adult patients J Neurol 250 2003 148 160
    • (2003) J Neurol , vol.250 , pp. 148-160
    • Pareyson, D.1
  • 15
    • 8344241096 scopus 로고    scopus 로고
    • High-density lipoprotein subpopulation profile and coronary heart disease prevalence in male participants of the Framingham Offspring Study
    • B.F. Asztalos, L.A. Cupples, and S. Demissie High-density lipoprotein subpopulation profile and coronary heart disease prevalence in male participants of the Framingham Offspring Study Arterioscler Thromb Vasc Biol 24 2004 2181 2187
    • (2004) Arterioscler Thromb Vasc Biol , vol.24 , pp. 2181-2187
    • Asztalos, B.F.1    Cupples, L.A.2    Demissie, S.3
  • 16
    • 75949151243 scopus 로고
    • The inheritance of high density lipoprotein deficiency (Tangier disease)
    • D.S. Fredrickson The inheritance of high density lipoprotein deficiency (Tangier disease) J Clin Invest 43 1964 228 236
    • (1964) J Clin Invest , vol.43 , pp. 228-236
    • Fredrickson, D.S.1
  • 17
    • 0019455643 scopus 로고
    • Plasma apolipoprotein concentrations in familial apolipoprotein A-I and A-II deficiency (Tangier disease)
    • P. Alaupovic, E.J. Schaefer, W.J. McConathy, J.D. Fesmire, and H.B. Brewer Jr. Plasma apolipoprotein concentrations in familial apolipoprotein A-I and A-II deficiency (Tangier disease) Metabolism 30 1981 805 809
    • (1981) Metabolism , vol.30 , pp. 805-809
    • Alaupovic, P.1    Schaefer, E.J.2    McConathy, W.J.3    Fesmire, J.D.4    Brewer, Jr.H.B.5
  • 18
    • 0034750411 scopus 로고    scopus 로고
    • Cholesterol and apolipoprotein B metabolism in Tangier disease
    • E.J. Schaefer, M.E. Brousseau, and M.R. Diffenderfer Cholesterol and apolipoprotein B metabolism in Tangier disease Atherosclerosis 159 2001 231 236
    • (2001) Atherosclerosis , vol.159 , pp. 231-236
    • Schaefer, E.J.1    Brousseau, M.E.2    Diffenderfer, M.R.3
  • 19
    • 77954957285 scopus 로고    scopus 로고
    • Marked HDL deficiency and premature coronary heart disease
    • E.J. Schaefer, R.D. Santos, and B.F. Asztalos Marked HDL deficiency and premature coronary heart disease Curr Opin Lipidol 21 2010 289 297
    • (2010) Curr Opin Lipidol , vol.21 , pp. 289-297
    • Schaefer, E.J.1    Santos, R.D.2    Asztalos, B.F.3
  • 20
    • 0032813808 scopus 로고    scopus 로고
    • Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency
    • A. Brooks-Wilson, and M. Marcil Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency Nat Genet 22 1999 336 345
    • (1999) Nat Genet , vol.22 , pp. 336-345
    • Brooks-Wilson, A.1    Marcil, M.2
  • 21
    • 4644295495 scopus 로고    scopus 로고
    • Deficiency of ABCA1 impairs apolipoprotein e metabolism in brain
    • V. Hirsch-Reinshagen, S. Zhou, and B.L. Burgess Deficiency of ABCA1 impairs apolipoprotein E metabolism in brain J Biol Chem 279 2004 41197 41207
    • (2004) J Biol Chem , vol.279 , pp. 41197-41207
    • Hirsch-Reinshagen, V.1    Zhou, S.2    Burgess, B.L.3
  • 22
    • 33646164174 scopus 로고    scopus 로고
    • Paranodal pathology in Tangier disease with remitting-relapsing multifocal neuropathy
    • Z. Cai, P.C. Blumbergs, and K. Cash Paranodal pathology in Tangier disease with remitting-relapsing multifocal neuropathy J Clin Neurosci 13 2006 492 497
    • (2006) J Clin Neurosci , vol.13 , pp. 492-497
    • Cai, Z.1    Blumbergs, P.C.2    Cash, K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.