Similar articles for PMID: 15522202

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1

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. Akasaka-Manya K, et al. Biochem Biophys Res Commun. 2004 Dec 3;325(1):75-9. doi: 10.1016/j.bbrc.2004.10.001. Biochem Biophys Res Commun. 2004. PMID: 15522202

2

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. van Reeuwijk J, et al. J Med Genet. 2005 Dec;42(12):907-12. doi: 10.1136/jmg.2005.031963. Epub 2005 May 13. J Med Genet. 2005. PMID: 15894594 Free PMC article.

3

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. Lommel M, et al. Glycobiology. 2008 Aug;18(8):615-25. doi: 10.1093/glycob/cwn042. Epub 2008 May 19. Glycobiology. 2008. PMID: 18490429

4

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. Manya H, et al. Proc Natl Acad Sci U S A. 2004 Jan 13;101(2):500-5. doi: 10.1073/pnas.0307228101. Epub 2003 Dec 29. Proc Natl Acad Sci U S A. 2004. PMID: 14699049 Free PMC article.

5

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. Willer T, et al. Proc Natl Acad Sci U S A. 2004 Sep 28;101(39):14126-31. doi: 10.1073/pnas.0405899101. Epub 2004 Sep 21. Proc Natl Acad Sci U S A. 2004. PMID: 15383666 Free PMC article.

6

Glyc-O-genetics of Walker-Warburg syndrome.

van Reeuwijk J, Brunner HG, van Bokhoven H. van Reeuwijk J, et al. Clin Genet. 2005 Apr;67(4):281-9. doi: 10.1111/j.1399-0004.2004.00368.x. Clin Genet. 2005. PMID: 15733261 Review.

7

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. Lommel M, et al. Neurology. 2010 Jan 12;74(2):157-64. doi: 10.1212/WNL.0b013e3181c919d6. Neurology. 2010. PMID: 20065251

8

The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.

van Reeuwijk J, Maugenre S, van den Elzen C, Verrips A, Bertini E, Muntoni F, Merlini L, Scheffer H, Brunner HG, Guicheney P, van Bokhoven H. van Reeuwijk J, et al. Hum Mutat. 2006 May;27(5):453-9. doi: 10.1002/humu.20313. Hum Mutat. 2006. PMID: 16575835

9

Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.

Beltrán-Valero de Bernabé D, Currier S, Steinbrecher A, Celli J, van Beusekom E, van der Zwaag B, Kayserili H, Merlini L, Chitayat D, Dobyns WB, Cormand B, Lehesjoki AE, Cruces J, Voit T, Walsh CA, van Bokhoven H, Brunner HG. Beltrán-Valero de Bernabé D, et al. Am J Hum Genet. 2002 Nov;71(5):1033-43. doi: 10.1086/342975. Epub 2002 Oct 4. Am J Hum Genet. 2002. PMID: 12369018 Free PMC article.

10

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. Manya H, et al. J Biochem. 2010 Mar;147(3):337-44. doi: 10.1093/jb/mvp170. Epub 2009 Oct 29. J Biochem. 2010. PMID: 19880378

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