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Items: 1 to 20 of 80

1.

Pharmacological chaperones increase the cell-surface expression of intracellularly retained mutants of the melanocortin 4 receptor with unique rescuing efficacy profiles.

Ward NA, Hirst S, Williams J, Findlay JB.

Biochem Soc Trans. 2012 Aug;40(4):717-20. doi: 10.1042/BST20110764. Review.

PMID:
22817722
2.

Obesity-linked variants of melanocortin-4 receptor are misfolded in the endoplasmic reticulum and can be rescued to the cell surface by a chemical chaperone.

Granell S, Mohammad S, Ramanagoudr-Bhojappa R, Baldini G.

Mol Endocrinol. 2010 Sep;24(9):1805-21. doi: 10.1210/me.2010-0071. Epub 2010 Jul 14.

3.

Pharmacological chaperones restore function to MC4R mutants responsible for severe early-onset obesity.

René P, Le Gouill C, Pogozheva ID, Lee G, Mosberg HI, Farooqi IS, Valenzano KJ, Bouvier M.

J Pharmacol Exp Ther. 2010 Dec;335(3):520-32. doi: 10.1124/jpet.110.172098. Epub 2010 Sep 8.

4.

The cytosolic chaperone Hsc70 promotes traffic to the cell surface of intracellular retained melanocortin-4 receptor mutants.

Meimaridou E, Gooljar SB, Ramnarace N, Anthonypillai L, Clark AJ, Chapple JP.

Mol Endocrinol. 2011 Sep;25(9):1650-60. doi: 10.1210/me.2011-1020. Epub 2011 Jun 30.

PMID:
21719532
5.

Ipsen 5i is a Novel Potent Pharmacoperone for Intracellularly Retained Melanocortin-4 Receptor Mutants.

Tao YX, Huang H.

Front Endocrinol (Lausanne). 2014 Aug 4;5:131. doi: 10.3389/fendo.2014.00131. eCollection 2014.

6.

Mutations in melanocortin-4 receptor and human obesity.

Tao YX.

Prog Mol Biol Transl Sci. 2009;88:173-204. doi: 10.1016/S1877-1173(09)88006-X. Epub 2009 Oct 7. Review.

PMID:
20374728
7.

Functional characterization and pharmacological rescue of melanocortin-4 receptor mutations identified from obese patients.

Fan ZC, Tao YX.

J Cell Mol Med. 2009 Sep;13(9B):3268-82. doi: 10.1111/j.1582-4934.2009.00726.x. Epub 2009 Feb 27.

8.

A novel melanocortin-4 receptor mutation MC4R-P272L associated with severe obesity has increased propensity to be ubiquitinated in the ER in the face of correct folding.

Granell S, Serra-Juhé C, Martos-Moreno GÁ, Díaz F, Pérez-Jurado LA, Baldini G, Argente J.

PLoS One. 2012;7(12):e50894. doi: 10.1371/journal.pone.0050894. Epub 2012 Dec 12.

9.

A small molecule agonist THIQ as a novel pharmacoperone for intracellularly retained melanocortin-4 receptor mutants.

Huang H, Tao YX.

Int J Biol Sci. 2014 Jul 20;10(8):817-24. doi: 10.7150/ijbs.9625. eCollection 2014.

10.

Rescue of melanocortin 4 receptor (MC4R) nonsense mutations by aminoglycoside-mediated read-through.

Brumm H, Mühlhaus J, Bolze F, Scherag S, Hinney A, Hebebrand J, Wiegand S, Klingenspor M, Grüters A, Krude H, Biebermann H.

Obesity (Silver Spring). 2012 May;20(5):1074-81. doi: 10.1038/oby.2011.202. Epub 2011 Jul 7.

11.

Point mutations in the melanocortin-4 receptor cause variable obesity in mice.

Meehan TP, Tabeta K, Du X, Woodward LS, Firozi K, Beutler B, Justice MJ.

Mamm Genome. 2006 Dec;17(12):1162-71. Epub 2006 Dec 1.

PMID:
17143585
12.

Rescue of defective MC4R cell-surface expression and signaling by a novel pharmacoperone Ipsen 17.

Wang XH, Wang HM, Zhao BL, Yu P, Fan ZC.

J Mol Endocrinol. 2014 Aug;53(1):17-29. doi: 10.1530/JME-14-0005. Epub 2014 Apr 29.

13.

Functional analysis of melanocortin-4-receptor mutants identified in severely obese subjects living in Southern Italy.

Alfieri A, Pasanisi F, Salzano S, Esposito L, Martone D, Tafuri D, Daniele A, Contaldo F, Sacchetti L, Zagari A, Buono P.

Gene. 2010 Jun 1;457(1-2):35-41. doi: 10.1016/j.gene.2010.03.001. Epub 2010 Mar 7.

PMID:
20214954
14.

Functional characterization of melanocortin-4 receptor mutations associated with childhood obesity.

Tao YX, Segaloff DL.

Endocrinology. 2003 Oct;144(10):4544-51. Epub 2003 Jun 19.

PMID:
12959994
15.

Intracellular retention of human melanocortin-4 receptor: a molecular mechanism underlying early-onset obesity in F261S pedigree of Chinese.

Fang QC, Jia WP, Cai SB, Shao XY, Zhang R, Wang CR, Bao YQ, Xiang KS.

Biomed Environ Sci. 2008 Aug;21(4):280-5. doi: 10.1016/S0895-3988(08)60042-2.

PMID:
18837289
16.

Novel pharmacological MC4R agonists can efficiently activate mutated MC4R from obese patient with impaired endogenous agonist response.

Roubert P, Dubern B, Plas P, Lubrano-Berthelier C, Alihi R, Auger F, Deoliveira DB, Dong JZ, Basdevant A, Thurieau C, Clément K.

J Endocrinol. 2010 Nov;207(2):177-83. doi: 10.1677/JOE-09-0336. Epub 2010 Aug 9.

17.
18.

A novel non-synonymous mutation in the melanocortin-4 receptor gene (MC4R) in a 2-year-old Austrian girl with extreme obesity.

Rettenbacher E, Tarnow P, Brumm H, Prayer D, Wermter AK, Hebebrand J, Biebermann H, Hinney A, Widhalm K.

Exp Clin Endocrinol Diabetes. 2007 Jan;115(1):7-12.

PMID:
17286227
19.
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