| 1 | POMGNT1, POMT1, POMT2
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| Different roles of the two components of human protein O-mannosyltransferase, POMT1 and POMT2.
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| Akasaka-Manya K, Manya H, Hayashi M, Endo T.
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| Biochem Biophys Res Commun 411(4):721-5. Epub 2011 Jul 18. 2011
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| 2 | POMT1, POMT2
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| Akasaka-Manya K, Manya H, Hayashi M, Endo T.
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| Akasaka-Manya K, Manya H, Hayashi M, Endo T.
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| Biochem Biophys Res Commun. 411(4):721-5. 2011
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| 3 | POMT1, POMT2
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| Role of N-glycans in maintaining the activity of protein O-mannosyltransferases POMT1 and POMT2.
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| Manya H, Akasaka-Manya K, Nakajima A, Kawakita M, Endo T.
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| J Biochem 147(3):337-44. Epub 2009 Oct 29.
2010
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| 4 | POMGNT1, POMT1, POMT2
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| POMGnT1, POMT1, and POMT2 mutations in congenital muscular dystrophies.
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| Endo T, Manya H, Seta N, Guicheney P.
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| Methods Enzymol 479:343-52.
2010
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| 5 | POMT2, WLKWS2
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| POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation.
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| 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.
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| Eur J Med Genet 52(4):201-6. Epub 2008 Dec 27.PMID: 19138766 2009
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| 6 | LGMD2N, MDDGB3, MDDGC3, POMGNT1, POMT2
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| Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.
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| Mercuri E, Messina S, Bruno C, Mora M, Pegoraro E, Comi GP, D'Amico A, Aiello C, Biancheri R, Berardinelli A, Boffi P, Cassandrini D, Laverda A, Moggio M, Morandi L, Moroni I, Pane M, Pezzani R, Pichiecchio A, Pini A, Minetti C, Mongini T, Mottarelli E, Ricci E, Ruggieri A, Saredi S, Scuderi C, Tessa A, Toscano A, Tortorella G, Trevisan CP, Uggetti C, Vasco G, Santorelli FM, Bertini E.
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| Neurology 72(21):1802-9. Epub 2009 Mar 18.PMID: 19299310 2009
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| 7 | FCMD, FKTN, LARGE, POMG, POMGNT1, POMT1, POMT2, WLKWS1, WLKWS2, WLKWS3, WLKWS4
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| Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.
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| Clement E, Mercuri E, Godfrey C, Smith J, Robb S, Kinali M, Straub V, Bushby K, Manzur A, Talim B, Cowan F, Quinlivan R, Klein A, Longman C, McWilliam R, Topaloglu H, Mein R, Abbs S, North K, Barkovich AJ, Rutherford M, Muntoni F.
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| Ann Neurol 64(5):573-82. 2008
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| 8 | FCMD, FKTN, LARGE, POMG, POMGNT1, POMT1, POMT2, WLKWS1, WLKWS2, WLKWS3, WLKWS4
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| Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.
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| Manzini MC, Gleason D, Chang BS, Hill RS, Barry BJ, Partlow JN, Poduri A, Currier S, Galvin-Parton P, Shapiro LR, Schmidt K, Davis JG, Basel-Vanagaite L, Seidahmed MZ, Salih MA, Dobyns WB, Walsh CA.
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| Hum Mutat 29(11):E231-41. 2008
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| 9 | POMT2, LGMD2N
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| POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes.
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| Biancheri R, Falace A, Tessa A, Pedemonte M, Scapolan S, Cassandrini D, Aiello C, Rossi A, Broda P, Zara F, Santorelli FM, Minetti C, Bruno C.
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| Biochem Biophys Res Commun 363(4):1033-7. Epub 2007 Sep 25. 2007
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| 10 | FCMD, FKRP, FKTN, LARGE, POMG, POMGNT1, POMT1, POMT2, WLKWS1, WLKWS2, WLKWS3, WLKWS4
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| Muscular dystrophies due to defective glycosylation of dystroglycan.
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| Muntoni F, Brockington M, Godfrey C, Ackroyd M, Robb S, Manzur A, Kinali M, Mercuri E, Kaluarachchi M, Feng L, Jimenez-Mallebrera C, Clement E, Torelli S, Sewry CA, Brown SC.
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| Acta Myol 26(3):129-35. Review. 2007
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| 11 | POMT2, WLKWS2
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| New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation.
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| Yanagisawa A, Bouchet C, Van den Bergh PY, Cuisset JM, Viollet L, Leturcq F, Romero NB, Quijano-Roy S, Fardeau M, Seta N, Guicheney P.
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| Neurology 69(12):1254-60. Epub 2007 Jul 18.PMID: 17634419 2007
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| 12 | LGMD2N, POMT2
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| POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes.
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| Biancheri R, Falace A, Tessa A, Pedemonte M, Scapolan S, Cassandrini D, Aiello C, Rossi A, Broda P, Zara F, Santorelli FM, Minetti C, Bruno C.
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| Biochem Biophys Res Commun 363(4):1033-7. Epub 2007 Sep 25.PMID: 17923109 2007
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| 13 | WLKWS2, POMT2
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| POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.
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| van Reeuwijk J, Janssen M, van den Elzen C, Beltran-Valero de Bernabe 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.
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| J Med Genet 42(12):907-12. Epub 2005 May 13. 2005
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| 14 | POMT1, POMT2
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| Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity.
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| Manya H, Chiba A, Yoshida A, Wang X, Chiba Y, Jigami Y, Margolis RU, Endo T.
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| Proc Natl Acad Sci U S A 101(2):500-5. Epub 2003 Dec 29. 2004
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| 15 | POMT1, POMT2, WLKWS1
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| Mutations of the POMT1 gene found in patients with Walker-Warburg syndrome lead to a defect of protein O-mannosylation.
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| Akasaka-Manya K, Manya H, Endo T.
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| Biochem Biophys Res Commun 325(1):75-9. 2004
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| 16 | ARVD1, ANGEL1, VASH1, POMT2, TGFB3
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| Arrhythmogenic right ventricular cardiomyopathy type 1 (ARVD1): confirmation of locus assignment and mutation screening of four candidate genes.
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| Rampazzo A, Beffagna G, Nava A, Occhi G, Bauce B, Noiato M, Basso C, Frigo G, Thiene G, Towbin J, Danieli GA.
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| Eur J Hum Genet 11(1):69-76. 2003
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| 17 | POMT2
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| Characterization of POMT2, a novel member of the PMT protein O-mannosyltransferase family specifically localized to the acrosome of mammalian spermatids.
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| Willer T, Amselgruber W, Deutzmann R, Strahl S.
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| Glycobiology 12(11):771-83. 2002
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