Gobin S - Search Results

1

Demonstration of N- and C-terminal domain intramolecular interactions in rat liver carnitine palmitoyltransferase 1 that determine its degree of malonyl-CoA sensitivity.

Faye A, Borthwick K, Esnous C, Price NT, Gobin S, Jackson VN, Zammit VA, Girard J, Prip-Buus C. Faye A, et al. Among authors: gobin s. Biochem J. 2005 Apr 1;387(Pt 1):67-76. doi: 10.1042/BJ20041533. Biochem J. 2005. PMID: 15498023 Free PMC article.

2

Functional and structural basis of carnitine palmitoyltransferase 1A deficiency.

Gobin S, Thuillier L, Jogl G, Faye A, Tong L, Chi M, Bonnefont JP, Girard J, Prip-Buus C. Gobin S, et al. J Biol Chem. 2003 Dec 12;278(50):50428-34. doi: 10.1074/jbc.M310130200. Epub 2003 Sep 29. J Biol Chem. 2003. PMID: 14517221 Free article.

3

Organization of the human liver carnitine palmitoyltransferase 1 gene ( CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia.

Gobin S, Bonnefont JP, Prip-Buus C, Mugnier C, Ferrec M, Demaugre F, Saudubray JM, Rostane H, Djouadi F, Wilcox W, Cederbaum S, Haas R, Nyhan WL, Green A, Gray G, Girard J, Thuillier L. Gobin S, et al. Hum Genet. 2002 Aug;111(2):179-89. doi: 10.1007/s00439-002-0752-0. Epub 2002 Jul 16. Hum Genet. 2002. PMID: 12189492

4

Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects.

Bonnefont JP, Djouadi F, Prip-Buus C, Gobin S, Munnich A, Bastin J. Bonnefont JP, et al. Among authors: gobin s. Mol Aspects Med. 2004 Oct-Dec;25(5-6):495-520. doi: 10.1016/j.mam.2004.06.004. Mol Aspects Med. 2004. PMID: 15363638 Review.

5

Molecular and enzymatic characterization of a unique carnitine palmitoyltransferase 1A mutation in the Hutterite community.

Prip-Buus C, Thuillier L, Abadi N, Prasad C, Dilling L, Klasing J, Demaugre F, Greenberg CR, Haworth JC, Droin V, Kadhom N, Gobin S, Kamoun P, Girard J, Bonnefont JP. Prip-Buus C, et al. Among authors: gobin s. Mol Genet Metab. 2001 May;73(1):46-54. doi: 10.1006/mgme.2001.3176. Mol Genet Metab. 2001. PMID: 11350182

6

Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency.

Thuillier L, Rostane H, Droin V, Demaugre F, Brivet M, Kadhom N, Prip-Buus C, Gobin S, Saudubray JM, Bonnefont JP. Thuillier L, et al. Among authors: gobin s. Hum Mutat. 2003 May;21(5):493-501. doi: 10.1002/humu.10201. Hum Mutat. 2003. PMID: 12673791

7

Potential of fibrates in the treatment of fatty acid oxidation disorders: revival of classical drugs?

Djouadi F, Aubey F, Schlemmer D, Gobin S, Laforet P, Wanders RJ, Strauss AW, Bonnefont JP, Bastin J. Djouadi F, et al. Among authors: gobin s. J Inherit Metab Dis. 2006 Apr-Jun;29(2-3):341-2. doi: 10.1007/s10545-006-0266-3. J Inherit Metab Dis. 2006. PMID: 16763897

8

Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition.

Rio M, Malan V, Boissel S, Toutain A, Royer G, Gobin S, Morichon-Delvallez N, Turleau C, Bonnefont JP, Munnich A, Vekemans M, Colleaux L. Rio M, et al. Among authors: gobin s. Eur J Hum Genet. 2010 Mar;18(3):285-90. doi: 10.1038/ejhg.2009.159. Epub 2009 Oct 21. Eur J Hum Genet. 2010. PMID: 19844254 Free PMC article.

9

Renal involvement in lysinuric protein intolerance: contribution of pathology to assessment of heterogeneity of renal lesions.

Estève E, Krug P, Hummel A, Arnoux JB, Boyer O, Brassier A, de Lonlay P, Vuiblet V, Gobin S, Salomon R, Piètrement C, Bonnefont JP, Servais A, Galmiche L. Estève E, et al. Among authors: gobin s. Hum Pathol. 2017 Apr;62:160-169. doi: 10.1016/j.humpath.2016.12.021. Epub 2017 Jan 11. Hum Pathol. 2017. PMID: 28087478

10

Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy.

Barth M, Ottolenghi C, Hubert L, Chrétien D, Serre V, Gobin S, Romano S, Vassault A, Sefiani A, Ricquier D, Boddaert N, Brivet M, de Keyzer Y, Munnich A, Duran M, Rabier D, Valayannopoulos V, de Lonlay P. Barth M, et al. Among authors: gobin s. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S443-53. doi: 10.1007/s10545-010-9227-y. Epub 2010 Oct 27. J Inherit Metab Dis. 2010. PMID: 20978941

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