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Items: 1 to 20 of 98

1.

The o-mannosylation pathway: glycosyltransferases and proteins implicated in congenital muscular dystrophy.

Wells L.

J Biol Chem. 2013 Mar 8;288(10):6930-5. doi: 10.1074/jbc.R112.438978. Epub 2013 Jan 17. Review.

2.

Protein glycosylation in disease: new insights into the congenital muscular dystrophies.

Martin-Rendon E, Blake DJ.

Trends Pharmacol Sci. 2003 Apr;24(4):178-83. Review.

PMID:
12707004
3.

O-Mannosylation and human disease.

Dobson CM, Hempel SJ, Stalnaker SH, Stuart R, Wells L.

Cell Mol Life Sci. 2013 Aug;70(16):2849-57. doi: 10.1007/s00018-012-1193-0. Epub 2012 Nov 1. Review.

4.

Glycomic analyses of mouse models of congenital muscular dystrophy.

Stalnaker SH, Aoki K, Lim JM, Porterfield M, Liu M, Satz JS, Buskirk S, Xiong Y, Zhang P, Campbell KP, Hu H, Live D, Tiemeyer M, Wells L.

J Biol Chem. 2011 Jun 17;286(24):21180-90. doi: 10.1074/jbc.M110.203281. Epub 2011 Apr 1.

5.

The role of defective glycosylation in congenital muscular dystrophy.

Schachter H, Vajsar J, Zhang W.

Glycoconj J. 2004;20(5):291-300. Review.

PMID:
15229394
6.

Dissecting the molecular basis of the role of the O-mannosylation pathway in disease: α-dystroglycan and forms of muscular dystrophy.

Live D, Wells L, Boons GJ.

Chembiochem. 2013 Dec 16;14(18):2392-402. doi: 10.1002/cbic.201300417. Epub 2013 Nov 7. Review.

7.

Zebrafish models for human FKRP muscular dystrophies.

Kawahara G, Guyon JR, Nakamura Y, Kunkel LM.

Hum Mol Genet. 2010 Feb 15;19(4):623-33. doi: 10.1093/hmg/ddp528. Epub 2009 Dec 1.

8.
9.

Differential glycosylation of α-dystroglycan and proteins other than α-dystroglycan by like-glycosyltransferase.

Zhang P, Hu H.

Glycobiology. 2012 Feb;22(2):235-47. doi: 10.1093/glycob/cwr131. Epub 2011 Sep 19.

10.

Glycosylation defects in muscular dystrophies.

Haliloğlu G, Topaloğlu H.

Curr Opin Neurol. 2004 Oct;17(5):521-7. Review.

PMID:
15367856
11.

Protein O-mannosylation in metazoan organisms.

Panin VM, Wells L.

Curr Protoc Protein Sci. 2014 Feb 3;75:Unit 12.12.. doi: 10.1002/0471140864.ps1212s75.

12.

A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex.

MacLeod H, Pytel P, Wollmann R, Chelmicka-Schorr E, Silver K, Anderson RB, Waggoner D, McNally EM.

Neuromuscul Disord. 2007 Apr;17(4):285-9. Epub 2007 Mar 1.

PMID:
17336067
13.

LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies.

Barresi R, Michele DE, Kanagawa M, Harper HA, Dovico SA, Satz JS, Moore SA, Zhang W, Schachter H, Dumanski JP, Cohn RD, Nishino I, Campbell KP.

Nat Med. 2004 Jul;10(7):696-703. Epub 2004 Jun 6.

14.
15.

Dystroglycanopathies: coming into focus.

Godfrey C, Foley AR, Clement E, Muntoni F.

Curr Opin Genet Dev. 2011 Jun;21(3):278-85. doi: 10.1016/j.gde.2011.02.001. Epub 2011 Mar 11. Review.

PMID:
21397493
16.

Protein O-mannosylation in animal development and physiology: from human disorders to Drosophila phenotypes.

Nakamura N, Lyalin D, Panin VM.

Semin Cell Dev Biol. 2010 Aug;21(6):622-30. doi: 10.1016/j.semcdb.2010.03.010. Epub 2010 Apr 1. Review.

17.

Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy.

Brockington M, Torelli S, Prandini P, Boito C, Dolatshad NF, Longman C, Brown SC, Muntoni F.

Hum Mol Genet. 2005 Mar 1;14(5):657-65. Epub 2005 Jan 20.

18.

Mammalian O-mannosylation: unsolved questions of structure/function.

Stalnaker SH, Stuart R, Wells L.

Curr Opin Struct Biol. 2011 Oct;21(5):603-9. doi: 10.1016/j.sbi.2011.09.001. Epub 2011 Sep 22. Review.

19.

Glycosylation defects in inherited muscle disease.

Hewitt JE, Grewal PK.

Cell Mol Life Sci. 2003 Feb;60(2):251-8. Review.

PMID:
12678490
20.

Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies.

Lefeber DJ, Schönberger J, Morava E, Guillard M, Huyben KM, Verrijp K, Grafakou O, Evangeliou A, Preijers FW, Manta P, Yildiz J, Grünewald S, Spilioti M, van den Elzen C, Klein D, Hess D, Ashida H, Hofsteenge J, Maeda Y, van den Heuvel L, Lammens M, Lehle L, Wevers RA.

Am J Hum Genet. 2009 Jul;85(1):76-86. doi: 10.1016/j.ajhg.2009.06.006. Epub 2009 Jul 2.

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