Citations for
1LGMD2K, POMT1
Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.
Bello L, Melacini P, Pezzani R, D'Amico A, Piva L, Leonardi E, Torella A, Soraru G, Palmieri A, Smaniotto G, Gavassini BF, Vianello A, Nigro V, Bertini E, Angelini C, Tosatto SC, Pegoraro E.
Eur J Hum Genet 20(12):1234-9. doi: 10.1038/ejhg.2012.71. Epub 2012 May 2. 2012
2LGMD2K, POMT1
Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.
Bello L, Melacini P, Pezzani R, D'Amico A, Piva L, Leonardi E, Torella A, Soraru G, Palmieri A, Smaniotto G, Gavassini BF, Vianello A, Nigro V, Bertini E, Angelini C, Tosatto SC, Pegoraro E.
Eur J Hum Genet 20(12):1234-9. doi: 10.1038/ejhg.2012.71. Epub 2012 May 2. 2012
3POMGNT1, POMT1, POMT2
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 411(4):721-5. Epub 2011 Jul 18. 2011
4POMT1, POMT2
Akasaka-Manya K, Manya H, Hayashi M, Endo T.
Akasaka-Manya K, Manya H, Hayashi M, Endo T.
Biochem Biophys Res Commun. 411(4):721-5. 2011
5POMT1, POMT2
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 147(3):337-44. Epub 2009 Oct 29. 2010
6POMGNT1, POMT1, POMT2
POMGnT1, POMT1, and POMT2 mutations in congenital muscular dystrophies.
Endo T, Manya H, Seta N, Guicheney P.
Methods Enzymol 479:343-52. 2010
7POMT1, WLKWS1
POMT1-associated walker-warburg syndrome: a disorder of dendritic development of neocortical neurons.
Judas M, Sedmak G, Rados M, Sarnavka V, Fumić K, Willer T, Gross C, Hehr U, Strahl S, Cuk M, Barić I.
Neuropediatrics 40(1):6-14. Epub 2009 Jul 28. 2009
8FCMD, FKTN, LARGE, POMG, POMGNT1, POMT1, POMT2, WLKWS1, WLKWS2, WLKWS3, WLKWS4
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.
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.
Ann Neurol 64(5):573-82. 2008
9FCMD, FKTN, LARGE, POMG, POMGNT1, POMT1, POMT2, WLKWS1, WLKWS2, WLKWS3, WLKWS4
Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.
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.
Hum Mutat 29(11):E231-41. 2008
10FCMD, FKRP, FKTN, LARGE, POMG, POMGNT1, POMT1, POMT2, WLKWS1, WLKWS2, WLKWS3, WLKWS4
Muscular dystrophies due to defective glycosylation of dystroglycan.
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.
Acta Myol 26(3):129-35. Review. 2007
11LGMD2K, WLKWS1, POMT1
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.
Hum Mutat 27(5):453-9. 2006
12FKRP, FKTN, ITGA7, ITGA7D, LAMA2, MDC1A, MDC1B, POMGNT1, POMT1, RSMD1, SEPN1, WLKWS1, WLKWS4
Case 35-2006 -- A Newborn Boy with Hypotonia.
Brown RH Jr, Grant PE, Pierson CR.
N Engl J Med 355(20):2132-2142. No abstract available. 2006
13POMT1, WLKWS1
Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.
Currier SC, Lee CK, Chang BS, Bodell AL, Pai GS, Job L, Lagae LG, Al-Gazali LI, Eyaid WM, Enns G, Dobyns WB, Walsh CA.
Am J Med Genet A 133(1):53-7. 2005
14WLKWS1, POMT1, FKTN, FCMD
Glyc-O-genetics of Walker-Warburg syndrome.
van Reeuwijk J, Brunner HG, van Bokhoven H.
Clin Genet 67(4):281-9. 2005
15POMT1
Targeted disruption of the Walker-Warburg syndrome gene Pomt1 in mouse results in embryonic lethality.
Willer T, Prados B, Falcon-Perez JM, Renner-Muller 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 101(39):14126-31. Epub 2004 Sep 21. 2004
16POMT1, POMT2
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 101(2):500-5. Epub 2003 Dec 29. 2004
17POMT1, POMT2, WLKWS1
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 325(1):75-9. 2004
18WLKWS1, POMT1
Extracellular matrix and nuclear abnormalities in skeletal muscle of a patient with Walker-Warburg syndrome caused by POMT1 mutation.
Sabatelli P, Columbaro M, Mura I, Capanni C, Lattanzi G, Maraldi NM, Beltran-Valero de Barnabe D, van Bokoven H, Squarzoni S, Merlini L.
Biochim Biophys Acta 1638(1):57-62. 2003
19POMT1, WLKWS1
Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome.
Beltran-Valero De Bernabe 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.
Am J Hum Genet 71(5):1033-43. 2002
20POMT1
Identification of a human homolog of the drosophila rotated abdomen gene (POMT1) encoding a putative protein O-mannosyl-transferase, and assignment to human chromosome 9q34.1.
Jurado LA, et al.
Genomics 58(2):171-80. 1999