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Items: 1 to 20 of 128

1.

Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity.

Manya H, Chiba A, Yoshida A, Wang X, Chiba Y, Jigami Y, Margolis RU, Endo T.

Proc Natl Acad Sci U S A. 2004 Jan 13;101(2):500-5. Epub 2003 Dec 29.

2.

POMT2, a key enzyme in Walker-Warburg syndrome: somatic sPOMT2, but not testis-specific tPOMT2, is crucial for mannosyltransferase activity in vivo.

Lommel M, Willer T, Strahl S.

Glycobiology. 2008 Aug;18(8):615-25. doi: 10.1093/glycob/cwn042. Epub 2008 May 19.

PMID:
18490429
3.

Mutations of the POMT1 gene found in patients with Walker-Warburg syndrome lead to a defect of protein O-mannosylation.

Akasaka-Manya K, Manya H, Endo T.

Biochem Biophys Res Commun. 2004 Dec 3;325(1):75-9.

PMID:
15522202
4.

Physical and functional association of human protein O-mannosyltransferases 1 and 2.

Akasaka-Manya K, Manya H, Nakajima A, Kawakita M, Endo T.

J Biol Chem. 2006 Jul 14;281(28):19339-45. Epub 2006 May 12.

5.

Molecular cloning and characterization of rat Pomt1 and Pomt2.

Manya H, Chiba A, Margolis RU, Endo T.

Glycobiology. 2006 Sep;16(9):863-73. Epub 2006 May 16.

PMID:
16704966
6.

Role of N-glycans in maintaining the activity of protein O-mannosyltransferases POMT1 and POMT2.

Manya H, Akasaka-Manya K, Nakajima A, Kawakita M, Endo T.

J Biochem. 2010 Mar;147(3):337-44. doi: 10.1093/jb/mvp170. Epub 2009 Oct 29.

PMID:
19880378
7.

POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.

van Reeuwijk J, Janssen M, van den Elzen C, Beltran-Valero de Bernabé D, Sabatelli P, Merlini L, Boon M, Scheffer H, Brockington M, Muntoni F, Huynen MA, Verrips A, Walsh CA, Barth PG, Brunner HG, van Bokhoven H.

J Med Genet. 2005 Dec;42(12):907-12. Epub 2005 May 13.

8.

The twisted abdomen phenotype of Drosophila POMT1 and POMT2 mutants coincides with their heterophilic protein O-mannosyltransferase activity.

Ichimiya T, Manya H, Ohmae Y, Yoshida H, Takahashi K, Ueda R, Endo T, Nishihara S.

J Biol Chem. 2004 Oct 8;279(41):42638-47. Epub 2004 Jul 22.

9.

Correlation of enzyme activity and clinical phenotype in POMT1-associated dystroglycanopathies.

Lommel M, Cirak S, Willer T, Hermann R, Uyanik G, van Bokhoven H, Körner C, Voit T, Barić I, Hehr U, Strahl S.

Neurology. 2010 Jan 12;74(2):157-64. doi: 10.1212/WNL.0b013e3181c919d6.

PMID:
20065251
10.

O-mannosylation in mammalian cells.

Endo T, Manya H.

Methods Mol Biol. 2006;347:43-56.

PMID:
17072003
11.

Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies.

Manya H, Bouchet C, Yanagisawa A, Vuillaumier-Barrot S, Quijano-Roy S, Suzuki Y, Maugenre S, Richard P, Inazu T, Merlini L, Romero NB, Leturcq F, Bezier I, Topaloglu H, Estournet B, Seta N, Endo T, Guicheney P.

Neuromuscul Disord. 2008 Jan;18(1):45-51. Epub 2007 Sep 14.

PMID:
17869517
12.

Different roles of the two components of human protein O-mannosyltransferase, POMT1 and POMT2.

Akasaka-Manya K, Manya H, Hayashi M, Endo T.

Biochem Biophys Res Commun. 2011 Aug 12;411(4):721-5. doi: 10.1016/j.bbrc.2011.07.012. Epub 2011 Jul 18.

PMID:
21782786
13.

Expression and localization of fukutin, POMGnT1, and POMT1 in the central nervous system: consideration for functions of fukutin.

Yamamoto T, Kato Y, Kawaguchi M, Shibata N, Kobayashi M.

Med Electron Microsc. 2004 Dec;37(4):200-7. Review.

PMID:
15614444
14.

POMT1 is essential for protein O-mannosylation in mammals.

Lommel M, Willer T, Cruces J, Strahl S.

Methods Enzymol. 2010;479:323-42. doi: 10.1016/S0076-6879(10)79018-2.

PMID:
20816174
15.

Targeted disruption of the Walker-Warburg syndrome gene Pomt1 in mouse results in embryonic lethality.

Willer T, Prados B, Falcón-Pérez JM, Renner-Müller I, Przemeck GK, Lommel M, Coloma A, Valero MC, de Angelis MH, Tanner W, Wolf E, Strahl S, Cruces J.

Proc Natl Acad Sci U S A. 2004 Sep 28;101(39):14126-31. Epub 2004 Sep 21.

16.

POMGnT1, POMT1, and POMT2 mutations in congenital muscular dystrophies.

Endo T, Manya H, Seta N, Guicheney P.

Methods Enzymol. 2010;479:343-52. doi: 10.1016/S0076-6879(10)79019-4.

PMID:
20816175
18.
19.
20.

POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation.

Yanagisawa A, Bouchet C, Quijano-Roy S, Vuillaumier-Barrot S, Clarke N, Odent S, Rodriguez D, Romero NB, Osawa M, Endo T, Taratuto AL, Seta N, Guicheney P.

Eur J Med Genet. 2009 Jul-Aug;52(4):201-6. doi: 10.1016/j.ejmg.2008.12.004. Epub 2008 Dec 27.

PMID:
19138766

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