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Home All issues Volume 26 / No 6-7 (Juin–Juillet 2010) Med Sci (Paris), 26 6-7 (2010) 627-635 References
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Issue
Med Sci (Paris)
Volume 26, Number 6-7, Juin–Juillet 2010
Page(s) 627 - 635
Section M/S revues
DOI https://doi.org/10.1051/medsci/2010266-7627
Published online 15 June 2010
  1. Ellgaard L, Helenius A. Quality control in the endoplasmic reticulum. Nature Rev Mol Cell Biol 2003 ; 4 : 181-91. [Google Scholar]
  2. Anelli T, Sitia R. Protein quality control in the early secretory pathway. EMBOJ 2008 ; 27 : 315-27. [Google Scholar]
  3. Arrigo AP. Chaperons moléculaires et repliement des protéines. MedSci (Paris) 2005 ; 21 : 619-25. [Google Scholar]
  4. Tsai B, Ye Y, Rapoport TA. Retro-translocation of proteins from the endoplasmic reticulum into the cytosol. Nature Rev Mol Cell Biol 2002 ; 3 : 246-55. [Google Scholar]
  5. Cohen FE, Kelly JW. Therapeutic approaches to protein-misfolfding diseases. Nature 2003 ; 426 : 905-9. [Google Scholar]
  6. Chaudhuri TK, Paul S. Protein-misfolding diseases and chaperone-based therapeutic approaches. FEBSJ 2006 ; 273 : 1331-49. [Google Scholar]
  7. Conn PM, Ulloa-Aguirre A, Ito J, Janovick JA. G protein-coupled receptors trafficking in health and disease : lessons learned to prepare for therapeutic mutant rescue in vivo. Pharmacol Rev 2007 ; 59 : 225-50. [Google Scholar]
  8. Sato S, Ward CL, Krouse ME, et al. Glycerol reverses the misfolding phenotype of the most common cystic fibrosis mutation. J Biol Chem 1996 ; 271 : 635-8. [Google Scholar]
  9. Oueslati M, Hermosilla R, Schönenberger E, et al. Rescue of a nephrogenic diabetes insipiduscausing vasopressin V2 receptor mutant by cell-penetrating peptides. J Biol Chem 2007 ; 282 : 20676-85. [Google Scholar]
  10. Loo TW, Clarke DM. Correction of defective protein kinesis of human P-glycoprotein mutants by substrates and modulators. J Biol Chem 1997 ; 272 : 709-12. [Google Scholar]
  11. Morello JP, Salahpour A, Laperrière A, et al. Pharmacological chaperones rescue cell-surface expression and function of misfolded V2 vasopressin receptor mutants. J Clin Invest 2000 ; 105 : 887-95. [Google Scholar]
  12. Bernier V, Morello JP, Zarruk A, et al. Pharmacologic chaperones as a potential treatment for Xlinked nephrogenic diabetes insipidus. J Am Soc Nephrol 2006 ; 17 : 232-43. [Google Scholar]
  13. Jean-Alphonse F, Perkovska S, Frantz MC, et al. Biased agonist pharmacochaperones of the AVP V2 receptor may treat congenital nephrogenic diabetes insipidus. J Am Soc Nephrol 2009 ; 20 : 2190-203. [Google Scholar]
  14. Robben JH, Sze M, Knoers NV, Deen PM. Functional rescue of vasopressin V2 receptor mutants in MDCK cells by pharmacochaperones: relevance to therapy of nephrogenic diabetes insipidus. Am J Physiol Renal Physiol 2007 ; 292 : F253-60. [Google Scholar]
  15. Conn PM, Janovick JA. Drug development and the cellular quality control system. Trends Pharmacol Sci 2009 ; 30 : 228-33. [Google Scholar]
  16. Li T, Sandberg MA, Pawlyk BS, et al. Effect of vitamine A supplementation on rhodopsin mutants T17M and P347S in transgenic mice and in cell cultures. Proc Natl Acad Sci USA 1998 ; 95 : 11933-8. [Google Scholar]
  17. Petäjä-Repo UE, Hogue M, Bhalla S, et al. Ligands act as pharmacological chaperones and increase the efficiency of δ opioid receptor maturation. EMBO J 2002 ; 21 : 1628-37. [Google Scholar]
  18. Janovick JA, Maya-Nunez G, Ulloa-Aguirre A, et al. Increased plasma membrane expression of human follicle-stimulating hormone receptor by a small molecule thienopyr(im)idine. Mol Cell Endocrinol 2009 ; 298 : 84-8. [Google Scholar]
  19. Riordan JR. The cystic fibrosis transmembrane conductance regulator. Annu Rev Physiol 1993 ; 55 : 609-30. [Google Scholar]
  20. Kerem B, Rommens JM, Buchanan JA, et al. Identification of the cystic fibrosis gene : genetic analysis. Science 1989 ; 245 : 1073-80. [Google Scholar]
  21. Germain DP. La maladie de Fabry : de la découverte des lysosomes à l’avènement de la thérapeutique. Med Sci (Paris) 2005 ; 21 : 5-7. [Google Scholar]
  22. Fan JQ, Ishii S, Asano N, Suzuki Y. Accelerated transport and maturation of lysosomal alphagalactosidase A in Fabry lymphoblasts by an enzyme inhibitor. Nat Med 1999 ; 5 : 112-5. [Google Scholar]
  23. Grabowski GA. Gaucher disease: enzymology, genetics and treatment. Adv Hum Genet 1993 ; 21 : 377-441. [Google Scholar]
  24. Sawkar AR, Cheng WC, Beutler E, et al. Chemical chaperones increase the cellular activity of N370S beta-glucosidase: a therapeutic strategy for Gaucher disease. Proc Natl Acad Sci USA 2002 ; 99 : 15428-33. [Google Scholar]
  25. Mendes HF, Van der Spuy J, Chapple JP, Cheetham ME. Mechanisms of cell death in rhodopsin retinitis pigmentosa : implications for therapy. Trends Mol Med 2005 ; 11 : 177-85. [Google Scholar]
  26. Morello JP, Bichet DG. Nephrogenic diabetes insipidus. Annu Rev Physiol 2001 ; 63 : 607-30. [Google Scholar]
  27. Carrell RW, Lomas DA, Sidhar S, Foreman R. alpha1-antitrypsin deficiency: a conformational disease. Chest 1996 ; 110 : 243S-47S. [Google Scholar]
  28. Foster BA, Coffey HA, Morin MJ, Rastinejad F. Pharmacological rescue of mutant p53 conformation and function. Science 1999 ; 286 : 2507-10. [Google Scholar]
  29. Toledo F, Bluteau O, Simeonova I. Réactivation de p53 dans les tumeurs : une stratégie antitumorale prometteuse. Med Sci (Paris) 2007 ; 23 : 565-7. [Google Scholar]
  30. Lam CW, Xie J, To KF, et al. A frequent activated smoothened mutation in sporadic basal cell carcinomas. Oncogene 1999 ; 18 : 833-6. [Google Scholar]
  31. Partridge CJ, Beech DJ, Sivaprasadarao A. Identification and pharmacological correction of a membrane trafficking defect associated with a mutation in the sulfonylurea receptor causing familial hyperinsulinism. J Biol Chem 2001 ; 276 : 35947-52. [Google Scholar]
  32. Pratt EB, Yan FF, Gay JW, et al. Sulfonylurea receptor 1 mutations that cause opposite insulin secretion defects with chemical chaperone exposure. J Biol Chem 2009 ; 284 : 7951-9. [Google Scholar]
  33. Kim BE, Smith K, Meagher CK, Petrisd MJ. A conditional mutation affecting localization of the Menkes disease copper ATPase ; suppression by copper supplementation. J Biol Chem 2002 ; 277 : 44079-84. [Google Scholar]
  34. Liu X, Garriga P, Khorana HG. Structure and function in rhodopsin : correct folding and misfolding in two point mutants in the intradiscal domain of rhodopsin identified in retinitis pigmentosa. Proc Natl Acad Sci USA 1996 ; 93 : 4554-9. [Google Scholar]
  35. Fuchs S, Amiel J, Claudel S, et al. Functional characterization of three mutations of the endothelin B receptor gene in patients with Hirshsprung’s disease: evidence for selective loss of Gi coupling. Mol Med 2001 ; 7 : 115-24. [Google Scholar]
  36. Lubrano-Berthelier C, Dubern B, Lacorte JM, et al. Melanocortin 4 receptor mutations in a large cohort of severely obese adults : : prevalence, functional classification, genotype-phenotype relationship, and lack of association with binge eating. J Clin EndocrinolMetab 2006 ; 91 : 1811-8. [Google Scholar]
  37. Clark AJL, Metherell LA, Cheetham ME, Huebner A. Inherited ACTH insensitivity illuminates the mechanisms of ACTH action. Trends Endocrinol Metab 2005 ; 16 : 451-7. [Google Scholar]
  38. Samson M, Libert F, Doranz BJ, et al. Resistance to HIV-1 infection in caucasian individuals bearing mutant alleles of the CCR-5 chemokine receptor gene. Nature 1996 ; 382 : 722-5. [Google Scholar]
  39. Tfelt-Hansen J, Brown EM. The clacium-sensing receptor in normal physiology and athophysiology: a review. Crit Rev Clin Lab Sci 2007 ; 42 : 35-70. [Google Scholar]
  40. Biebermann H, Schoneberg T, Krude H, et al. Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism. J Clin Endocrinol Metab 1997 ; 82 : 3471-80. [Google Scholar]
  41. Themmen APN, Martens JWM, Brunner HG. Activating and inactivating mutations in LH receptors. Mol Cell Endocrinol 1998 ; 145 : 137-42. [Google Scholar]
  42. Aittomäki KJ, Lucena LD, Pakarinen P, et al. Mutation in the folliclestimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell 1995 ; 82 : 959-68. [Google Scholar]
  43. Beaumont KA, Newton RA, Smit DJ, et al. Altered cell surface expression of human MCR1 variant receptor alleles associated with red hair and skin cancer risk. Hum Mol Genet 2005 ; 14 : : 2145-54. [Google Scholar]
  44. Noorwez SM, Malhotra R, McDowell JH, et al. Retinoids assist the cellular folding of the autosomal dominant retinitis pigmentosa opsin mutant P23H. J Biol Chem 2004 ; 279 : 16278-84. [Google Scholar]
  45. Lees AJ, Hardy J, Revesz T. Parkinson’s disease. Lancet 2009 ; 373 : 2055-66. [Google Scholar]
  46. Sacchetini JC, Kelly JW. Therapeutic strategies for human amyloid diseases. Nat Rev Drug Discov 2002 ; 1 : 267-75. [Google Scholar]
  47. Kobayashi H, Ogawa K, Yao R, et al. Functional rescue of beta-adrenoceptor dimerization and trafficking by pharmacological chaperones. Traffic 2009 ; 10 : 1019-33. [Google Scholar]
  48. Stanton BZ, Peng LF. Small molecule modulators of the Sonic Hedgehog signalling pathway. Mol Biosyst 2010 ; 6 : 44-54. [Google Scholar]
  49. Pey AL, Ying M, Cremades N, et al. Identification of pharmacological chaperones as potential therapeutic agents to treat phenylketonuria. J Clin Invest 2008 ; 118 : 2858-67. [Google Scholar]
  50. Asano N, Ishii S, Kizu H, et al. In vitro inhibition and intracellular enhancement of lysosomal alpha-galactosidase A activity in Fabry lymphoblasts by 1-deoxygalactonojirimycin an dits derivatives. Eur J Biochem 2000 ; 267 : 4179-86. [Google Scholar]
  51. Loo TW, Bartlett MC, Wang Y, Clarke DM. Rescue of deltaF508 and other misprocessed CFTR mutants by a novel quinazoline compound. Mol Pharmacol 2005 ; 2 : 407-13. [Google Scholar]
  52. Korth C, May BC, Cohen FE, Prusiner SB. Acridine and phenothiazine derivatives as pharmacotherapeutics for prion disease. Proc Natl Acad Sci USA 2001 ; 98 : 9836-41. [Google Scholar]
  53. Sigurdsson EM, Permanne B, Soto C, et al. In vivo reversal of amyloid-beta lesions in rat brain. J Neuropathol Exp Neurol 2000 ; 59 : 11-7. [Google Scholar]
  54. Heiser V, Scherzinger E, Boeddrich A, et al. Inhibition of huntingtin fibrillogenesis by specific antibodies and small molecules: implications for huntington’s disease therapy. Proc Natl Acad Sci USA 2000 ; 97 : 6739-44. [Google Scholar]

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