메뉴 건너뛰기




Volumn 156, Issue 12, 2015, Pages 4720-4730

Efficient activation of pathogenic Δphe501 mutation in monocarboxylate transporter 8 by chemical and pharmacological chaperones

Author keywords

[No Author keywords available]

Indexed keywords

4 PHENYLBUTYRIC ACID; BENZYLOXYCARBONYLLEUCYLLEUCYLLEUCINAL; CHAPERONE; COMPLEMENTARY DNA; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DIMETHYL SULFOXIDE; GENISTEIN; LIOTHYRONINE; MONOCARBOXYLATE TRANSPORTER 8; MUTANT PROTEIN; TAUROCHOLIC ACID; TRIMETHYLAMINE OXIDE; 4-PHENYLBUTYRIC ACID; ARYLBUTYRIC ACID DERIVATIVE; BENZYLOXYCARBONYLLEUCYL-LEUCYL-LEUCINE ALDEHYDE; CYSTEINE PROTEINASE INHIBITOR; LEUPEPTIN; MONOCARBOXYLATE TRANSPORTER; RADIOACTIVE IODINE; SLC16A2 PROTEIN, HUMAN; THYROXINE;

EID: 84948129770     PISSN: 00137227     EISSN: 19457170     Source Type: Journal    
DOI: 10.1210/en.2015-1393     Document Type: Article
Times cited : (25)

References (46)
  • 1
    • 5644276275 scopus 로고    scopus 로고
    • Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation
    • Friesema EC, Grueters A, Biebermann H, et al. Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation. Lancet. 2004;364:1435-1437.
    • (2004) Lancet , vol.364 , pp. 1435-1437
    • Friesema, E.C.1    Grueters, A.2    Biebermann, H.3
  • 2
    • 0347634343 scopus 로고    scopus 로고
    • A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene
    • Dumitrescu AM, Liao XH, Best TB, Brockmann K, Refetoff S. A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. Am J Hum Genet. 2004;74:168-175.
    • (2004) Am J Hum Genet , vol.74 , pp. 168-175
    • Dumitrescu, A.M.1    Liao, X.H.2    Best, T.B.3    Brockmann, K.4    Refetoff, S.5
  • 3
    • 0000033737 scopus 로고
    • Some examples of the inheritance of mental deficiency: Apparently sex-linked idiocy and microcephaly
    • Allan W, Herndon CN, Dudley FC. Some examples of the inheritance of mental deficiency: apparently sex-linked idiocy and microcephaly. Am J Ment Defic. 1944;48:325-334.
    • (1944) Am J Ment Defic , vol.48 , pp. 325-334
    • Allan, W.1    Herndon, C.N.2    Dudley, F.C.3
  • 4
    • 20544454120 scopus 로고    scopus 로고
    • Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene
    • Schwartz CE, May MM, Carpenter NJ, et al. Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene. Am J Hum Genet. 2005;77:41-53.
    • (2005) Am J Hum Genet , vol.77 , pp. 41-53
    • Schwartz, C.E.1    May, M.M.2    Carpenter, N.J.3
  • 6
    • 77956246269 scopus 로고    scopus 로고
    • Essential molecular determinants for thyroid hormone transport and first structural implications for monocarboxylate transporter 8
    • Kinne A, Kleinau G, Hoefig CS, et al. Essential molecular determinants for thyroid hormone transport and first structural implications for monocarboxylate transporter 8. J Biol Chem. 2010;285: 28054-28063.
    • (2010) J Biol Chem , vol.285 , pp. 28054-28063
    • Kinne, A.1    Kleinau, G.2    Hoefig, C.S.3
  • 7
    • 34347216037 scopus 로고    scopus 로고
    • Functional analysis of monocarboxylate transporter 8 mutations identified in patients with X-linked psychomotor retardation and elevated serum triiodothyronine
    • Jansen J, Friesema EC, Kester MH, et al. Functional analysis of monocarboxylate transporter 8 mutations identified in patients with X-linked psychomotor retardation and elevated serum triiodothyronine. J Clin Endocrinol Metab. 2007;92:2378-2381.
    • (2007) J Clin Endocrinol Metab , vol.92 , pp. 2378-2381
    • Jansen, J.1    Friesema, E.C.2    Kester, M.H.3
  • 8
    • 71649109028 scopus 로고    scopus 로고
    • Surface translocation and tri-iodothyronine uptake of mutant MCT8 proteins are cell type dependent
    • Kinne A, Roth S, Biebermann H, Köhrle J, Grüters A, Schweizer U. Surface translocation and tri-iodothyronine uptake of mutant MCT8 proteins are cell type dependent. J Mol Endocrinol. 2009; 43:263-271.
    • (2009) J Mol Endocrinol , vol.43 , pp. 263-271
    • Kinne, A.1    Roth, S.2    Biebermann, H.3    Köhrle, J.4    Grüters, A.5    Schweizer, U.6
  • 9
    • 77952876422 scopus 로고    scopus 로고
    • Genetics and phenomics of thyroid hormone transport by MCT8
    • Friesema EC, Visser WE, Visser TJ. Genetics and phenomics of thyroid hormone transport by MCT8. Mol Cell Endocrinol. 2010;322: 107-113.
    • (2010) Mol Cell Endocrinol , vol.322 , pp. 107-113
    • Friesema, E.C.1    Visser, W.E.2    Visser, T.J.3
  • 10
    • 84876880669 scopus 로고    scopus 로고
    • Mutations inMCT8 in patients with Allan-Herndon-Dudley-syndrome affecting its cellular distribution
    • Kersseboom S, Kremers GJ, Friesema EC, et al. Mutations inMCT8 in patients with Allan-Herndon-Dudley-syndrome affecting its cellular distribution. Mol Endocrinol. 2013;27:801-813.
    • (2013) Mol Endocrinol , vol.27 , pp. 801-813
    • Kersseboom, S.1    Kremers, G.J.2    Friesema, E.C.3
  • 11
    • 15444378008 scopus 로고    scopus 로고
    • The monocarboxylate transporter 8 linked to human psychomotor retardation is highly expressed in thyroid hormone-sensitive neuron populations
    • Heuer H, Maier MK, Iden S, et al. The monocarboxylate transporter 8 linked to human psychomotor retardation is highly expressed in thyroid hormone-sensitive neuron populations. Endocrinology. 2005;146:1701-1706.
    • (2005) Endocrinology , vol.146 , pp. 1701-1706
    • Heuer, H.1    Maier, M.K.2    Iden, S.3
  • 12
    • 68049138998 scopus 로고    scopus 로고
    • Neuronal 3', 3, 5-triiodothyronine (T3) uptake and behavioral phenotype of mice deficient in Mct8, the neuronal T3 transporter mutated in Allan-Herndon-Dudley syndrome
    • Wirth EK, Roth S, Blechschmidt C, et al. Neuronal 3', 3, 5-triiodothyronine (T3) uptake and behavioral phenotype of mice deficient in Mct8, the neuronal T3 transporter mutated in Allan-Herndon-Dudley syndrome. J Neurosci. 2009;29:9439-9449.
    • (2009) J Neurosci , Issue.29 , pp. 9439-9449
    • Wirth, E.K.1    Roth, S.2    Blechschmidt, C.3
  • 13
    • 78951470785 scopus 로고    scopus 로고
    • Developmental and cell typespecific expression of thyroid hormone transporters in the mouse brain and in primary brain cells
    • Braun D, Kinne A, Brauer AU, et al. Developmental and cell typespecific expression of thyroid hormone transporters in the mouse brain and in primary brain cells. Glia. 2011;59:463-471.
    • (2011) Glia , vol.59 , pp. 463-471
    • Braun, D.1    Kinne, A.2    Brauer, A.U.3
  • 14
    • 23044479645 scopus 로고    scopus 로고
    • Neuroanatomical pathways for thyroid hormone feedback in the human hypothalamus
    • Alkemade A, Friesema EC, Unmehopa UA, et al. Neuroanatomical pathways for thyroid hormone feedback in the human hypothalamus. J Clin Endocrinol Metab. 2005;90:4322-4334.
    • (2005) J Clin Endocrinol Metab , vol.90 , pp. 4322-4334
    • Alkemade, A.1    Friesema, E.C.2    Unmehopa, U.A.3
  • 15
    • 57349180438 scopus 로고    scopus 로고
    • Expression of the thyroid hormone transportersMCT8(SLC16A2) andOATP14(SLCO1C1) at the blood-brain barrier
    • Roberts LM, Woodford K, Zhou M, et al. Expression of the thyroid hormone transportersMCT8(SLC16A2) andOATP14(SLCO1C1) at the blood-brain barrier. Endocrinology. 2008;149:6251-6261.
    • (2008) Endocrinology , vol.149 , pp. 6251-6261
    • Roberts, L.M.1    Woodford, K.2    Zhou, M.3
  • 16
    • 84916637399 scopus 로고    scopus 로고
    • Mutations of the thyroid hormone transporter MCT8 cause prenatal brain damage and persistent hypomyelination
    • Lopez-Espindola D, Morales-Bastos C, Grijota-Martinez C, et al. Mutations of the thyroid hormone transporter MCT8 cause prenatal brain damage and persistent hypomyelination. J Clin Endocrinol Metab. 2014;99:E2799-E2804.
    • (2014) J Clin Endocrinol Metab , vol.99 , pp. E2799-E2804
    • Lopez-Espindola, D.1    Morales-Bastos, C.2    Grijota-Martinez, C.3
  • 17
    • 84899760743 scopus 로고    scopus 로고
    • Transporters MCT8 and OATP1C1 maintain murine brain thyroid hormone homeostasis
    • Mayerl S, Müller J, Bauer R, et al. Transporters MCT8 and OATP1C1 maintain murine brain thyroid hormone homeostasis. J Clin Invest. 2014;124:1987-1999.
    • (2014) J Clin Invest , vol.124 , pp. 1987-1999
    • Mayerl, S.1    Müller, J.2    Bauer, R.3
  • 18
    • 84877584154 scopus 로고
    • Function of thyroid hormone transporters in the central nervous system
    • Schweizer U, Köhrle J. Function of thyroid hormone transporters in the central nervous system. Biochim Biophys Acta. 2013;1830: 3965-3973.
    • (1830) Biochim Biophys Acta , vol.2013 , pp. 3965-3973
    • Schweizer, U.1    Köhrle, J.2
  • 19
    • 58349086340 scopus 로고    scopus 로고
    • Novel pathogenic mechanism suggested by ex vivo analysis of MCT8 (SLC16A2) mutations
    • Visser WE, Jansen J, Friesema EC, et al. Novel pathogenic mechanism suggested by ex vivo analysis of MCT8 (SLC16A2) mutations. Hum Mutat. 2009;30:29-38.
    • (2009) Hum Mutat , vol.30 , pp. 29-38
    • Visser, W.E.1    Jansen, J.2    Friesema, E.C.3
  • 20
    • 84870728589 scopus 로고    scopus 로고
    • Diiodothyropropionic acid (DITPA) in the treatment of MCT8 deficiency
    • Verge CF, Konrad D, Cohen M, et al. Diiodothyropropionic acid (DITPA) in the treatment of MCT8 deficiency. J Clin Endocrinol Metab. 2012;97:4515-4523.
    • (2012) J Clin Endocrinol Metab , vol.97 , pp. 4515-4523
    • Verge, C.F.1    Konrad, D.2    Cohen, M.3
  • 21
    • 84872708609 scopus 로고    scopus 로고
    • Tetrac can replace thyroid hormone during brain development in mouse mutants deficient in the thyroid hormone transporter mct8
    • Horn S, Kersseboom S, Mayerl S, et al. Tetrac can replace thyroid hormone during brain development in mouse mutants deficient in the thyroid hormone transporter mct8. Endocrinology. 2013;154: 968-979.
    • (2013) Endocrinology , vol.154 , pp. 968-979
    • Horn, S.1    Kersseboom, S.2    Mayerl, S.3
  • 22
    • 84914094438 scopus 로고    scopus 로고
    • In vitro and mouse studies supporting therapeutic utility of triiodothyroacetic acid in MCT8 deficiency
    • Kersseboom S, Horn S, Visser WE, et al. In vitro and mouse studies supporting therapeutic utility of triiodothyroacetic acid in MCT8 deficiency. Mol Endocrinol. 2014;28:1961-1970.
    • (2014) Mol Endocrinol , vol.28 , pp. 1961-1970
    • Kersseboom, S.1    Horn, S.2    Visser, W.E.3
  • 23
    • 84907190430 scopus 로고    scopus 로고
    • Placenta passage of the thyroid hormone analog DITPA to male wild-type and Mct8-deficient mice
    • Ferrara AM, Liao XH, Gil-Ibanez P, et al. Placenta passage of the thyroid hormone analog DITPA to male wild-type and Mct8-deficient mice. Endocrinology. 2014;155:4088-4093.
    • (2014) Endocrinology , vol.155 , pp. 4088-4093
    • Ferrara, A.M.1    Liao, X.H.2    Gil-Ibanez, P.3
  • 25
    • 3042540232 scopus 로고    scopus 로고
    • Pharmacological chaperones: Potential treatment for conformational diseases
    • Bernier V, Lagace M, Bichet DG, Bouvier M.Pharmacological chaperones: potential treatment for conformational diseases. Trends Endocrinol Metab. 2004;15:222-228.
    • (2004) Trends Endocrinol Metab , vol.15 , pp. 222-228
    • Bernier, V.1    Lagace, M.2    Bichet, D.G.3    Bouvier, M.4
  • 26
    • 33748069813 scopus 로고    scopus 로고
    • Chemical chaperones reduce ER stress and restore glucose homeostasis in a mouse model of type 2 diabetes
    • Özcan U, Yilmaz E, Özcan L, et al. Chemical chaperones reduce ER stress and restore glucose homeostasis in a mouse model of type 2 diabetes. Science. 2006;313:1137-1140.
    • (2006) Science , vol.313 , pp. 1137-1140
    • Özcan, U.1    Yilmaz, E.2    Özcan, L.3
  • 27
    • 84862234023 scopus 로고    scopus 로고
    • Tafamidis, a potent and selective transthyretin kinetic stabilizer that inhibits the amyloid cascade
    • Bulawa CE, Connelly S, Devit M, et al. Tafamidis, a potent and selective transthyretin kinetic stabilizer that inhibits the amyloid cascade. Proc Natl Acad Sci USA. 2012;109:9629-9634.
    • (2012) Proc Natl Acad Sci USA , vol.109 , pp. 9629-9634
    • Bulawa, C.E.1    Connelly, S.2    Devit, M.3
  • 28
    • 0030154620 scopus 로고    scopus 로고
    • Chemical chaperones correct the mutant phenotype of the delta F508 cystic fibrosis transmembrane conductance regulator protein
    • Brown CR, Hong-Brown LQ, Biwersi J, Verkman AS, Welch WJ. Chemical chaperones correct the mutant phenotype of the delta F508 cystic fibrosis transmembrane conductance regulator protein. Cell Stress Chaperones. 1996;1:117-125.
    • (1996) Cell Stress Chaperones , vol.1 , pp. 117-125
    • Brown, C.R.1    Hong-Brown, L.Q.2    Biwersi, J.3    Verkman, A.S.4    Welch, W.J.5
  • 29
    • 0036896021 scopus 로고    scopus 로고
    • Rescuing protein conformation: Prospects for pharmacological therapy in cystic fibrosis
    • Gelman MS, Kopito RR. Rescuing protein conformation: prospects for pharmacological therapy in cystic fibrosis. J Clin Invest. 2002; 110:1591-1597.
    • (2002) J Clin Invest , vol.110 , pp. 1591-1597
    • Gelman, M.S.1    Kopito, R.R.2
  • 30
    • 0030809817 scopus 로고    scopus 로고
    • In vitro pharmacologic restoration of CFTR-mediated chloride transport with sodium 4-phenylbutyrate in cystic fibrosis epithelial cells containing delta F508- CFTR
    • Rubenstein RC, Egan ME, Zeitlin PL. In vitro pharmacologic restoration of CFTR-mediated chloride transport with sodium 4-phenylbutyrate in cystic fibrosis epithelial cells containing delta F508- CFTR. J Clin Invest. 1997;100:2457-2465.
    • (1997) J Clin Invest , vol.100 , pp. 2457-2465
    • Rubenstein, R.C.1    Egan, M.E.2    Zeitlin, P.L.3
  • 31
    • 0031889082 scopus 로고    scopus 로고
    • A pilot clinical trial of oral sodium 4-phenylbutyrate (Buphenyl) in Δf508-homozygous cystic fibrosis patients: Partial restoration of nasal epithelial CFTR function
    • Rubenstein RC, Zeitlin PL. A pilot clinical trial of oral sodium 4-phenylbutyrate (Buphenyl) in ΔF508-homozygous cystic fibrosis patients: partial restoration of nasal epithelial CFTR function.AmJ Respir Crit Care Med. 1998;157:484-490.
    • (1998) AmJ Respir Crit Care Med , vol.157 , pp. 484-490
    • Rubenstein, R.C.1    Zeitlin, P.L.2
  • 32
    • 80052712639 scopus 로고    scopus 로고
    • Clinical and experimental applications of sodium phenylbutyrate
    • Iannitti T, Palmieri B. Clinical and experimental applications of sodium phenylbutyrate. Drugs R D. 2011;11:227-249.
    • (2011) Drugs R D , vol.11 , pp. 227-249
    • Iannitti, T.1    Palmieri, B.2
  • 33
    • 0034652248 scopus 로고    scopus 로고
    • Chemical chaperones mediate increased secretion of mutant α1-antitrypsin (α1-AT) Z: A potential pharmacological strategy for prevention of liver injury and emphysema in α1-AT deficiency
    • Burrows JA, Willis LK, Perlmutter DH. Chemical chaperones mediate increased secretion of mutant α1-antitrypsin (α1-AT) Z: a potential pharmacological strategy for prevention of liver injury and emphysema in α1-AT deficiency. Proc Natl Acad Sci USA. 2000; 97:1796-1801.
    • (2000) Proc Natl Acad Sci USA , vol.97 , pp. 1796-1801
    • Burrows, J.A.1    Willis, L.K.2    Perlmutter, D.H.3
  • 34
    • 84937035647 scopus 로고    scopus 로고
    • Lumacaftor-ivacaftor in patients with cystic fibrosis homozygous for Phe508del CFTR
    • Wainwright CE, Elborn JS, Ramsey BW, et al. Lumacaftor-ivacaftor in patients with cystic fibrosis homozygous for Phe508del CFTR. N Engl J Med. 2015;373:220-231.
    • (2015) N Engl J Med , vol.373 , pp. 220-231
    • Wainwright, C.E.1    Elborn, J.S.2    Ramsey, B.W.3
  • 35
    • 84879302236 scopus 로고    scopus 로고
    • Histidines in potential substrate recognition sites affect thyroid hormone transport by monocarboxylate transporter 8 (MCT8)
    • Braun D, Lelios I, Krause G, Schweizer U. Histidines in potential substrate recognition sites affect thyroid hormone transport by monocarboxylate transporter 8 (MCT8). Endocrinology. 2013; 154:2553-2561.
    • (2013) Endocrinology , vol.154 , pp. 2553-2561
    • Braun, D.1    Lelios, I.2    Krause, G.3    Schweizer, U.4
  • 37
    • 84893175242 scopus 로고    scopus 로고
    • The role of Arg445 and Asp498 in the human thyroid hormone transporter MCT8
    • Groeneweg S, Friesema EC, Kersseboom S, et al. The role of Arg445 and Asp498 in the human thyroid hormone transporter MCT8. Endocrinology. 2014;155:618-626.
    • (2014) Endocrinology , vol.155 , pp. 618-626
    • Groeneweg, S.1    Friesema, E.C.2    Kersseboom, S.3
  • 38
    • 84938834269 scopus 로고    scopus 로고
    • An improved nonradioactive screening method identifies genistein and xanthohumol as potent inhibitors of iodothyronine deiodinases
    • Renko K, Schache S, Hoefig CS, et al. An improved nonradioactive screening method identifies genistein and xanthohumol as potent inhibitors of iodothyronine deiodinases. Thyroid. 2015;25:962-968.
    • (2015) Thyroid , vol.25 , pp. 962-968
    • Renko, K.1    Schache, S.2    Hoefig, C.S.3
  • 40
    • 80053482206 scopus 로고    scopus 로고
    • Monocarboxylate transporter 8 deficiency: Altered thyroid morphology and persistent high triiodothyronine/thyroxine ratio after thyroidectomy
    • Wirth EK, Sheu SY, Chiu-Ugalde J, et al. Monocarboxylate transporter 8 deficiency: altered thyroid morphology and persistent high triiodothyronine/thyroxine ratio after thyroidectomy. Eur J Endocrinol. 2011;165:555-561.
    • (2011) Eur J Endocrinol , vol.165 , pp. 555-561
    • Wirth, E.K.1    Sheu, S.Y.2    Chiu-Ugalde, J.3
  • 41
    • 45149085203 scopus 로고    scopus 로고
    • Beneficial effects of propylthiouracil plus L-thyroxine treatment in a patient with a mutation in MCT8
    • Wemeau JL, Pigeyre M, Proust-Lemoine E, et al. Beneficial effects of propylthiouracil plus L-thyroxine treatment in a patient with a mutation in MCT8. J Clin Endocrinol Metab. 2008;93:2084-2088.
    • (2008) J Clin Endocrinol Metab , vol.93 , pp. 2084-2088
    • Wemeau, J.L.1    Pigeyre, M.2    Proust-Lemoine, E.3
  • 42
    • 69249115321 scopus 로고    scopus 로고
    • A thyroid hormone analog with reduced dependence on the monocarboxylate transporter 8 for tissue transport
    • Di Cosmo C, Liao XH, Dumitrescu AM, Weiss RE, Refetoff S. A thyroid hormone analog with reduced dependence on the monocarboxylate transporter 8 for tissue transport. Endocrinology. 2009; 150:4450-4458.
    • (2009) Endocrinology , vol.150 , pp. 4450-4458
    • Di Cosmo, C.1    Liao, X.H.2    Dumitrescu, A.M.3    Weiss, R.E.4    Refetoff, S.5
  • 43
    • 0034099743 scopus 로고    scopus 로고
    • Sodium 4-phenylbutyrate downregulates Hsc70: Implications for intracellular trafficking of Δf508- CFTR
    • Rubenstein RC, Zeitlin PL. Sodium 4-phenylbutyrate downregulates Hsc70: implications for intracellular trafficking of ΔF508- CFTR. Am J Physiol Cell Physiol. 2000;278:C259-C267.
    • (2000) Am J Physiol Cell Physiol , vol.278 , pp. C259-C267
    • Rubenstein, R.C.1    Zeitlin, P.L.2
  • 44
    • 84906252868 scopus 로고    scopus 로고
    • Phytochemicals perturb membranes and promiscuously alter protein function
    • Ingolfsson HI, Thakur P, Herold KF, et al. Phytochemicals perturb membranes and promiscuously alter protein function. ACS Chem Biol. 2014;9:1788-1798.
    • (2014) ACS Chem Biol , vol.9 , pp. 1788-1798
    • Ingolfsson, H.I.1    Thakur, P.2    Herold, K.F.3
  • 45
    • 33745601361 scopus 로고    scopus 로고
    • Genistein and other soya isoflavones are potent ligands for transthyretin in serum and cerebrospinal fluid
    • Radovic B, Mentrup B, Köhrle J. Genistein and other soya isoflavones are potent ligands for transthyretin in serum and cerebrospinal fluid. Br J Nutr. 2006;95:1171-1176.
    • (2006) Br J Nutr , vol.95 , pp. 1171-1176
    • Radovic, B.1    Mentrup, B.2    Köhrle, J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.