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Volumn 89, Issue 3, 2008, Pages 728-731

Branched chain α-keto acid dehydrogenase, E1-β subunit gene is associated with premature ovarian failure

Author keywords

[No Author keywords available]

Indexed keywords

2 OXOISOVALERATE DEHYDROGENASE (LIPOAMIDE);

EID: 40249105987     PISSN: 00150282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.fertnstert.2007.03.063     Document Type: Article
Times cited : (4)

References (46)
  • 1
    • 0038326860 scopus 로고    scopus 로고
    • Mechanisms of premature ovarian failure
    • N. Santoro Mechanisms of premature ovarian failure Ann Endocrinol 64 2003 87 92
    • (2003) Ann Endocrinol , vol.64 , pp. 87-92
    • Santoro, N.1
  • 4
    • 0035006882 scopus 로고    scopus 로고
    • Perspective: the ovarian follicle-a perspective in 2001
    • J.S. Richards Perspective: the ovarian follicle-a perspective in 2001 Endocrinology 142 2001 2184 2193
    • (2001) Endocrinology , vol.142 , pp. 2184-2193
    • Richards, J.S.1
  • 6
    • 0028113616 scopus 로고
    • Inhibin, activin, follistatin, and transforming growth factor beta (TGF-beta): presence in the ovary and possible role in the regulation of folliculogenesis in primates
    • A. Gougeon Inhibin, activin, follistatin, and transforming growth factor beta (TGF-beta): presence in the ovary and possible role in the regulation of folliculogenesis in primates Contracept Fertil Sex 22 1994 571 576
    • (1994) Contracept Fertil Sex , vol.22 , pp. 571-576
    • Gougeon, A.1
  • 7
    • 0027505961 scopus 로고
    • An update on the roles of inhibin, activin, and follistatin as local regulators of folliculogenesis
    • J.K. Findlay An update on the roles of inhibin, activin, and follistatin as local regulators of folliculogenesis Biol Reprod 48 1993 15 23
    • (1993) Biol Reprod , vol.48 , pp. 15-23
    • Findlay, J.K.1
  • 8
    • 0029118115 scopus 로고
    • Mutation in the follicle-stimulating hormone receptor gene cause hereditary hypergonadotropic ovarian failure
    • K. Aittomaki J.L. Lucena P. Pakarinen J. Perheentupa Mutation in the follicle-stimulating hormone receptor gene cause hereditary hypergonadotropic ovarian failure Cell 82 1995 959 968
    • (1995) Cell , vol.82 , pp. 959-968
    • Aittomaki, K.1    Lucena, J.L.2    Pakarinen, P.3    Perheentupa, J.4
  • 10
    • 0030025051 scopus 로고    scopus 로고
    • Brief report: testicular and ovarian resistance to luteinizing hormone caused by inactivating mutations of the luteinizing hormone-receptor gene
    • A.C. Latronico J. Anasti I.J. Arnhold R. Rapaport B.B. Mendonca W. Bloise Brief report: testicular and ovarian resistance to luteinizing hormone caused by inactivating mutations of the luteinizing hormone-receptor gene N Engl J Med 334 1996 507 512
    • (1996) N Engl J Med , vol.334 , pp. 507-512
    • Latronico, A.C.1    Anasti, J.2    Arnhold, I.J.3    Rapaport, R.4    Mendonca, B.B.5    Bloise, W.6
  • 11
    • 0027324274 scopus 로고
    • Primary amenorrhoea and infertility due to a mutation in the beta-subunit of follicle-stimulating hormone
    • C.H. Matthews S. Borgato P. Beck-Peccoz M. Adams Y. Tone G. Gambino Primary amenorrhoea and infertility due to a mutation in the beta-subunit of follicle-stimulating hormone Nat Genet 5 1993 83 86
    • (1993) Nat Genet , vol.5 , pp. 83-86
    • Matthews, C.H.1    Borgato, S.2    Beck-Peccoz, P.3    Adams, M.4    Tone, Y.5    Gambino, G.6
  • 12
    • 0032893792 scopus 로고    scopus 로고
    • Increased prevalence of luteinizing hormone beta-subunit variant in patients with premature ovarian failure
    • K. Takahashi T. Ozaki M. Okada H. Kurioka H. Kanasaki K. Miyazaki Increased prevalence of luteinizing hormone beta-subunit variant in patients with premature ovarian failure Fertil Steril 71 1999 96 101
    • (1999) Fertil Steril , vol.71 , pp. 96-101
    • Takahashi, K.1    Ozaki, T.2    Okada, M.3    Kurioka, H.4    Kanasaki, H.5    Miyazaki, K.6
  • 13
    • 0032800694 scopus 로고    scopus 로고
    • Mutation screening and isoform prevalence of the follicle stimulating hormone receptor gene in women with premature ovarian failure, resistant ovary syndrome and polycystic ovary syndrome
    • G.S. Conway E. Conway C. Walker W. Hoppner J. Gromoll M. Simoni Mutation screening and isoform prevalence of the follicle stimulating hormone receptor gene in women with premature ovarian failure, resistant ovary syndrome and polycystic ovary syndrome Clin Endocrinol (Oxf) 51 1999 97 99
    • (1999) Clin Endocrinol (Oxf) , vol.51 , pp. 97-99
    • Conway, G.S.1    Conway, E.2    Walker, C.3    Hoppner, W.4    Gromoll, J.5    Simoni, M.6
  • 15
    • 3543026858 scopus 로고    scopus 로고
    • G769A variation of inhibin alpha-gene in Korean women with premature ovarian failure
    • H.J. Jeong S.W. Cho H.A. Kim S.H. Lee J.G. Cho D.H. Choi G769A variation of inhibin alpha-gene in Korean women with premature ovarian failure Yonsei Med J 45 2004 479 482
    • (2004) Yonsei Med J , vol.45 , pp. 479-482
    • Jeong, H.J.1    Cho, S.W.2    Kim, H.A.3    Lee, S.H.4    Cho, J.G.5    Choi, D.H.6
  • 16
    • 0037456729 scopus 로고    scopus 로고
    • Medicine and the racial divide
    • E.G. Phimister Medicine and the racial divide N Engl J Med 348 2003 1081 1082
    • (2003) N Engl J Med , vol.348 , pp. 1081-1082
    • Phimister, E.G.1
  • 17
    • 0037456772 scopus 로고    scopus 로고
    • The importance of race and ethnic background in biomedical research and clinical practice
    • E.G. Burchard E. Ziv N. Coyle S.L. Gomez H. Tang A.J. Karter The importance of race and ethnic background in biomedical research and clinical practice N Engl J Med 348 2003 1170 1175
    • (2003) N Engl J Med , vol.348 , pp. 1170-1175
    • Burchard, E.G.1    Ziv, E.2    Coyle, N.3    Gomez, S.L.4    Tang, H.5    Karter, A.J.6
  • 20
    • 0030688004 scopus 로고    scopus 로고
    • Variation on a theme: cataloging human DNA sequence variation
    • F.S. Collins M.S. Guyer A. Charkravarti Variation on a theme: cataloging human DNA sequence variation Science 278 1997 1580 1581
    • (1997) Science , vol.278 , pp. 1580-1581
    • Collins, F.S.1    Guyer, M.S.2    Charkravarti, A.3
  • 21
    • 13144306071 scopus 로고    scopus 로고
    • Genome-wide association studies for common disease and complex traits
    • J.N. Hirschhorn M.J. Daly Genome-wide association studies for common disease and complex traits Nat Rev Genet 6 2005 95 108
    • (2005) Nat Rev Genet , vol.6 , pp. 95-108
    • Hirschhorn, J.N.1    Daly, M.J.2
  • 23
    • 0029150074 scopus 로고
    • A comparison of linkage disequilibrium measures for fine-scale mapping
    • B. Devlin N. Risch A comparison of linkage disequilibrium measures for fine-scale mapping Genomics 29 1995 311 322
    • (1995) Genomics , vol.29 , pp. 311-322
    • Devlin, B.1    Risch, N.2
  • 24
    • 0034653468 scopus 로고    scopus 로고
    • Crystal structure of human branched-chain alpha-ketoacid dehydrogenase and the molecular basis of multienzyme complex deficiency in maple syrup urine disease
    • A. AEvarsson J.L. Chuang R.M. Wynn S. Turley D.T. Chuang W.G. Hol Crystal structure of human branched-chain alpha-ketoacid dehydrogenase and the molecular basis of multienzyme complex deficiency in maple syrup urine disease Structure 8 2000 277 291
    • (2000) Structure , vol.8 , pp. 277-291
    • AEvarsson, A.1    Chuang, J.L.2    Wynn, R.M.3    Turley, S.4    Chuang, D.T.5    Hol, W.G.6
  • 25
    • 2442728373 scopus 로고
    • Purification and characterization of branched chain a-keto acid dehydrogenase complex of bovine kidney
    • F.H. Pettit S.J. Yeaman L.J. Reed Purification and characterization of branched chain a-keto acid dehydrogenase complex of bovine kidney Proc Natl Acad Sci USA 75 1978 4881 4885
    • (1978) Proc Natl Acad Sci USA , vol.75 , pp. 4881-4885
    • Pettit, F.H.1    Yeaman, S.J.2    Reed, L.J.3
  • 26
    • 0018355912 scopus 로고
    • Purification and characterization of branched chain alpha-ketoacid dehydrogenase from bovine liver mitochondria
    • D.J. Danner S.K. Lemmon J.C. Besharse L.J. Elsas 2nd Purification and characterization of branched chain alpha-ketoacid dehydrogenase from bovine liver mitochondria J Biol Chem 254 1979 5522 5526
    • (1979) J Biol Chem , vol.254 , pp. 5522-5526
    • Danner, D.J.1    Lemmon, S.K.2    Besharse, J.C.3    Elsas, L.J.4
  • 27
    • 0021110282 scopus 로고
    • Identification of specific subunits of highly purified bovine liver branched-chain ketoacid dehydrogenase
    • S.C. Heffelfinger E.T. Sewell D.J. Danner Identification of specific subunits of highly purified bovine liver branched-chain ketoacid dehydrogenase Biochemistry 22 1983 5519 5522
    • (1983) Biochemistry , vol.22 , pp. 5519-5522
    • Heffelfinger, S.C.1    Sewell, E.T.2    Danner, D.J.3
  • 28
    • 0002977005 scopus 로고    scopus 로고
    • Maple syrup urine disease (branched-chain ketoaciduria)
    • D.T. Chuang V.E. Shih Maple syrup urine disease (branched-chain ketoaciduria) C.R. Scriver A.L. Beaudet W.S. Sly D. Valle The metabolic and molecular bases of inherited disease 8th ed. 2001 McGraw-Hill New York 1971 2005
    • (2001) , pp. 1971-2005
    • Chuang, D.T.1    Shih, V.E.2
  • 29
    • 0025911244 scopus 로고
    • Maple syrup urine disease. Complete defect of the E1 beta subunit of the branched chain alpha-ketoacid dehydrogenase complex due to a deletion of an 11-bp repeat sequence which encodes a mitochondrial targeting leader peptide in a family with the disease
    • Y. Nobukuni H. Mitsubuchi I. Akaboshi Y. Indo F. Endo I. Matsuda Maple syrup urine disease. Complete defect of the E1 beta subunit of the branched chain alpha-ketoacid dehydrogenase complex due to a deletion of an 11-bp repeat sequence which encodes a mitochondrial targeting leader peptide in a family with the disease J Clin Invest 87 1991 1862 1866
    • (1991) J Clin Invest , vol.87 , pp. 1862-1866
    • Nobukuni, Y.1    Mitsubuchi, H.2    Akaboshi, I.3    Indo, Y.4    Endo, F.5    Matsuda, I.6
  • 32
    • 0033028968 scopus 로고    scopus 로고
    • Management of acute metabolic decompensation in maple syrup urine disease: a multi-center study
    • M. Yoshino K. Aoki H. Akeda K. Hashimoto T. Ikeda F. Inoue Management of acute metabolic decompensation in maple syrup urine disease: a multi-center study Pediatr Int 41 1999 132 137
    • (1999) Pediatr Int , vol.41 , pp. 132-137
    • Yoshino, M.1    Aoki, K.2    Akeda, H.3    Hashimoto, K.4    Ikeda, T.5    Inoue, F.6
  • 33
    • 0015526241 scopus 로고
    • Brain serotonin content: physiological regulation by plasma neutral amino acids
    • J.D. Fernstrom R.J. Wurtman Brain serotonin content: physiological regulation by plasma neutral amino acids Science 178 1972 414 416
    • (1972) Science , vol.178 , pp. 414-416
    • Fernstrom, J.D.1    Wurtman, R.J.2
  • 34
    • 0029890289 scopus 로고    scopus 로고
    • Decrease in plasma phenylalanine and tyrosine after phenylalanine-tyrosine free amino acid solutions in man
    • E.A. Moja V. Lucini F. Benedetti A. Lucca Decrease in plasma phenylalanine and tyrosine after phenylalanine-tyrosine free amino acid solutions in man Life Sci 58 1996 2389 2395
    • (1996) Life Sci , vol.58 , pp. 2389-2395
    • Moja, E.A.1    Lucini, V.2    Benedetti, F.3    Lucca, A.4
  • 35
    • 0029784178 scopus 로고    scopus 로고
    • The use of dietary manipulation to deplete plasma tyrosine and phenylalanine in healthy subjects
    • B.D. Sheehan P. Tharyan S.F.B. McTavish G.M. Campling P.J. Cowen The use of dietary manipulation to deplete plasma tyrosine and phenylalanine in healthy subjects J Psychopharmacol 10 1996 231 234
    • (1996) J Psychopharmacol , vol.10 , pp. 231-234
    • Sheehan, B.D.1    Tharyan, P.2    McTavish, S.F.B.3    Campling, G.M.4    Cowen, P.J.5
  • 36
    • 0021697177 scopus 로고
    • Increase in stage 4 sleep after ingestion of a tryptophan-free diet in humans
    • E.A. Moja E. Antinoro M. Cesa-Bianchi G.L. Gessa Increase in stage 4 sleep after ingestion of a tryptophan-free diet in humans Pharmacol Res Commun 16 1984 909 914
    • (1984) Pharmacol Res Commun , vol.16 , pp. 909-914
    • Moja, E.A.1    Antinoro, E.2    Cesa-Bianchi, M.3    Gessa, G.L.4
  • 39
    • 0032899762 scopus 로고    scopus 로고
    • Effect of a tyrosine-free amino acid mixture on regional brain catecholamine synthesis and release
    • S.F. McTavish P.J. Cowen T. Sharp Effect of a tyrosine-free amino acid mixture on regional brain catecholamine synthesis and release Psychopharmacology (Berl) 141 1999 182 188
    • (1999) Psychopharmacology (Berl) , vol.141 , pp. 182-188
    • McTavish, S.F.1    Cowen, P.J.2    Sharp, T.3
  • 40
    • 0034912210 scopus 로고    scopus 로고
    • Neural signals that regulate GnRH neurones directly during the oestrous cycle
    • M.J. Smith L. Jennes Neural signals that regulate GnRH neurones directly during the oestrous cycle Reproduction 122 2001 1 10
    • (2001) Reproduction , vol.122 , pp. 1-10
    • Smith, M.J.1    Jennes, L.2
  • 41
    • 0018848036 scopus 로고
    • The neuroendocrine control of the menstrual cycle
    • E. Knobil The neuroendocrine control of the menstrual cycle Recent Prog Horm Res 36 1980 53 88
    • (1980) Recent Prog Horm Res , vol.36 , pp. 53-88
    • Knobil, E.1
  • 42
    • 0022974211 scopus 로고
    • Measurement of messenger ribonucleic acid for luteinizing hormone beta-subunit, alpha-subunit, growth hormone, and prolactin after hypothalamic pituitary disconnection in ovariectomized ewes
    • D.L. Hamernik M.E. Crowder J.H. Nilson T.M. Nett Measurement of messenger ribonucleic acid for luteinizing hormone beta-subunit, alpha-subunit, growth hormone, and prolactin after hypothalamic pituitary disconnection in ovariectomized ewes Endocrinology 119 1986 2704 2710
    • (1986) Endocrinology , vol.119 , pp. 2704-2710
    • Hamernik, D.L.1    Crowder, M.E.2    Nilson, J.H.3    Nett, T.M.4
  • 43
    • 0024347630 scopus 로고
    • The frequency of gonadotropin-releasing hormone stimulation differentially regulates gonadotropin subunit messenger ribonucleic acid expression
    • A.C. Dalkin D.J. Haisenleder G.A. Ortolano T.R. Ellis J.C. Marshall The frequency of gonadotropin-releasing hormone stimulation differentially regulates gonadotropin subunit messenger ribonucleic acid expression Endocrinology 125 1989 917 924
    • (1989) Endocrinology , vol.125 , pp. 917-924
    • Dalkin, A.C.1    Haisenleder, D.J.2    Ortolano, G.A.3    Ellis, T.R.4    Marshall, J.C.5
  • 44
    • 0036720942 scopus 로고    scopus 로고
    • GnRH pulse frequency modulation of gonadotropin subunit gene transcription in normal gonadotropes. Assessment by primary transcript assay provides evidence for roles of GnRH and follistatin
    • L.L. Burger A.C. Dalkin K.W. Aylor D.J. Haisenleder J.C. Marshall GnRH pulse frequency modulation of gonadotropin subunit gene transcription in normal gonadotropes. Assessment by primary transcript assay provides evidence for roles of GnRH and follistatin Endocrinology 143 2002 3243 3249
    • (2002) Endocrinology , vol.143 , pp. 3243-3249
    • Burger, L.L.1    Dalkin, A.C.2    Aylor, K.W.3    Haisenleder, D.J.4    Marshall, J.C.5
  • 45
    • 0028470451 scopus 로고
    • Mechanisms associated with corpus luteum development
    • M.F. Smith E.W. McIntush G.W. Smith Mechanisms associated with corpus luteum development J Anim Sci 72 1994 1857 1872
    • (1994) J Anim Sci , vol.72 , pp. 1857-1872
    • Smith, M.F.1    McIntush, E.W.2    Smith, G.W.3
  • 46
    • 0035116675 scopus 로고    scopus 로고
    • Differences in hormonal characteristics of conceptive versus nonconceptive menstrual cycles
    • H. Li S.T. Nakajima J. Chen H.E. Todd J.W. Overstreet B.L. Lasley Differences in hormonal characteristics of conceptive versus nonconceptive menstrual cycles Fertil Steril 75 2001 549 553
    • (2001) Fertil Steril , vol.75 , pp. 549-553
    • Li, H.1    Nakajima, S.T.2    Chen, J.3    Todd, H.E.4    Overstreet, J.W.5    Lasley, B.L.6


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