| 1 | POMGNT1, RP76
|
| Homozygosity Mapping and Whole-Genome Sequencing Links a Missense Mutation in POMGNT1 to Autosomal Recessive Retinitis Pigmentosa.
|
| Wang NH, Chen SJ, Yang CF, Chen HW, Chuang HP, Lu YH, Chen CH, Wu JY, Niu DM, Chen YT.
|
| Invest Ophthalmol Vis Sci 57(8):3601-9. doi: 10.1167/iovs.16-19463.
2016
|
| 2 | POMGNT1, RP76
|
| Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa.
|
| Xu M, Yamada T, Sun Z, Eblimit A, Lopez I, Wang F, Manya H, Xu S, Zhao L, Li Y, Kimchi A, Sharon D, Sui R, Endo T, Koenekoop RK, Chen R.
|
| Hum Mol Genet 25(8):1479-88. doi: 10.1093/hmg/ddw022. Epub 2016 Jan 28.
2016
|
| 3 | DAG1, POMGNT1
|
| Carbohydrate-binding domain of the POMGnT1 stem region modulates O-mannosylation sites of α-dystroglycan.
|
| Kuwabara N, Manya H, Yamada T, Tateno H, Kanagawa M, Kobayashi K, Akasaka-Manya K, Hirose Y, Mizuno M, Ikeguchi M, Toda T, Hirabayashi J, Senda T, Endo T, Kato R.
|
| Proc Natl Acad Sci U S A 113(33):9280-5. doi: 10.1073/pnas.1525545113. Epub 2016 Aug 4.
2016
|
| 4 | POMGNT1
|
| POMGNT1 Is Glycosylated by Mucin-Type O-Glycans.
|
| Xin X, Akasaka-Manya K, Manya H, Furukawa J, Kuwahara N, Okada K, Tsumoto H, Higashi N, Kato R, Shinohara Y, Irimura T, Endo T.
|
| Biol Pharm Bull 38(9):1389-94. doi: 10.1248/bpb.b15-00415.
2015
|
| 5 | POMGNT1
|
| Role of glycosyltransferase PomGnT1 in glioblastoma progression.
|
| Lan J, Guo P, Lin Y, Mao Q, Guo L, Ge J, Li X, Jiang J, Lin X, Qiu Y.
|
| Neuro Oncol 17(2):211-22. doi: 10.1093/neuonc/nou151. Epub 2014 Aug 1.
2015
|
| 6 | GOLPH3, POMGNT1
|
| Golgi phosphoprotein 3 mediates the Golgi localization and function of protein O-linked mannose β-1,2-Nacetlyglucosaminyltransferase 1.
|
| Pereira NA, Pu HX, Goh H, Song Z.
|
| J Biol Chem Biol Chem. 2014 Apr 14. [Epub ahead of print]
2014
|
| 7 | POMGNT1
|
| Biochemical and biophysical changes underlie the mechanisms of basement membrane disruptions in a mouse model of dystroglycanopathy.
|
| Zhang P, Yang Y, Candiello J, Thorn TL, Gray N, Halfter WM, Hu H.
|
| Matrix Biol 32(3-4):196-207. doi: 10.1016/j.matbio.2013.02.002. Epub 2013 Feb 27.
2013
|
| 8 | MDDGC3, POMGNT1
|
| Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O.
|
| Raducu M, Baets J, Fano O, Van Coster R, Cruces J.
|
| Eur J Hum Genet 20(9):945-52. doi: 10.1038/ejhg.2012.40. Epub 2012 Mar 14.
2012
|
| 9 | POMGNT1, WLKWS4
|
| Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease.
|
| Saredi S, Ardissone A, Ruggieri A, Mottarelli E, Farina L, Rinaldi R, Silvestri E, Gandioli C, D'Arrigo S, Salerno F, Morandi L, Grammatico P, Pantaleoni C, Moroni I, Mora M.
|
| J Neurol Sci 318(1-2):45-50. doi: 10.1016/j.jns.2012.04.008. Epub 2012 May 2.
2012
|
| 10 | MDDGC3, POMGNT1
|
| Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O.
|
| Raducu M, Baets J, Fano O, Van Coster R, Cruces J.
|
| Eur J Hum Genet 20(9):945-52. doi: 10.1038/ejhg.2012.40.
2012
|
| 11 | POMGNT1, 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
|
| 12 | POMGNT1
|
| Effects of length and amino acid sequence of O-mannosyl peptides on substrate specificity of protein O-linked mannose β1,2-N-acetylglucosaminyltransferase 1 (POMGnT1).
|
| Akasaka-Manya K, Manya H, Mizuno M, Inazu T, Endo T.
|
| Biochem Biophys Res Commun 410(3):632-6. Epub 2011 Jun 13.
2011
|
| 13 | POMGNT1, WLKWS4
|
| Reactive gliosis of astrocytes and Müller glial cells in retina of POMGnT1-deficient mice.
|
| Takahashi H, Kanesaki H, Igarashi T, Kameya S, Yamaki K, Mizota A, Kudo A, Miyagoe-Suzuki Y, Takeda S, Takahashi H.
|
| Mol Cell Neurosci 47(2):119-30. Epub 2011 Apr 8.
2011
|
| 14 | POMGNT1, WLKWS4
|
| Biochemical correlation of activity of the α-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease.
|
| Voglmeir J, Kaloo S, Laurent N, Meloni MM, Bohlmann L, Wilson IB, Flitsch SL.
|
| Biochem J 436(2):447-55.
2011
|
| 15 | POMGNT1, 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
|
| 16 | DUP1P34, POMGNT1
|
| A 649 kb microduplication in 1p34.1, including POMGNT1, in a patient with microcephaly, coloboma and laryngomalacia; and a review of the literature.
|
| Hanemaaijer N, Dijkhuizen T, Haadsma M, Boeve M, Boon M, Hordijk R, Kok K, Sikkema-Raddatz B, van Ravenswaaij-Arts CM.
|
| Eur J Med Genet 52(2-3):116-9. 2009
|
| 17 | DUP1P34, POMGNT1
|
| A 649 kb microduplication in 1p34.1, including POMGNT1, in a patient with microcephaly, coloboma and laryngomalacia; and a review of the literature.
|
| Hanemaaijer N, Dijkhuizen T, Haadsma M, Boeve M, Boon M, Hordijk R, Kok K, Sikkema-Raddatz B, van Ravenswaaij-Arts CM.
|
| Eur J Med Genet 52(2-3):116-9.
2009
|
| 18 | LGMD2N, MDDGB3, MDDGC3, POMGNT1, POMT2
|
| Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.
|
| 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.
|
| Neurology 72(21):1802-9. Epub 2009 Mar 18.PMID: 19299310 2009
|
| 19 | POMGNT1, GRACILE
|
| Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy.
|
| Oliveira J, Soares-Silva I, Fokkema I, Gon¨alves A, Cabral A, Diogo L, Gal‡n L, Guimar‹es A, Fineza I, den Dunnen JT, Santos R.
|
| J Hum Genet 53(6):565-72. Epub 2008 Mar 11. 2008
|
| 20 | FCMD, 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
|
| 21 | FCMD, 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
|
| 22 | MDDGB3, MDDGC3, POMGNT1
|
| 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
|
| 23 | MDDGB3, MDDGC3, POMGNT1
|
| Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant.
|
| Clement EM, Godfrey C, Tan J, Brockington M, Torelli S, Feng L, Brown SC, Jimenez-Mallebrera C, Sewry CA, Longman C, Mein R, Abbs S, Vajsar J, Schachter H, Muntoni F.
|
| Arch Neurol 65(1):137-41.
2008
|
| 24 | FCMD, 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
|
| 25 | FKTN, POMGNT1
|
| Molecular interaction between fukutin and POMGnT1 in the glycosylation pathway of alpha-dystroglycan.
|
| Xiong H, Kobayashi K, Tachikawa M, Manya H, Takeda S, Chiyonobu T, Fujikake N, Wang F, Nishimoto A, Morris GE, Nagai Y, Kanagawa M, Endo T, Toda T.
|
| Biochem Biophys Res Commun 350(4):935-41. Epub 2006 Oct 2.
2006
|
| 26 | FKRP, 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
|
| 27 | POMGNT1, WLKWS4
|
| POMGnT1 gene alterations in a family with neurological abnormalities.
|
| Vervoort VS, Holden KR, Ukadike KC, Collins JS, Saul RA, Srivastava AK.
|
| Ann Neurol 56(1):143-8. 2004
|
| 28 | POMGNT1, WLKWS4
|
| Structure-function analysis of human protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase 1, POMGnT1.
|
| Akasaka-Manya K, Manya H, Kobayashi K, Toda T, Endo T.
|
| Biochem Biophys Res Commun 320(1):39-44. 2004
|
| 29 | POMGNT1, WLKWS4
|
| Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease.
|
| Taniguchi K, Kobayashi K, Saito K, Yamanouchi H, Ohnuma A, Hayashi YK, Manya H, Jin DK, Lee M, Parano E, Falsaperla R, Pavone P, Van Coster R, Talim B, Steinbrecher A, Straub V, Nishino I, Topaloglu H, Voit T, Endo T, Toda T.
|
| Hum Mol Genet 12(5):527-34. 2003
|
| 30 | POMGNT1, WLKWS4
|
| Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease.
|
| Manya H, Sakai K, Kobayashi K, Taniguchi K, Kawakita M, Toda T, Endo T.
|
| Biochem Biophys Res Commun 306(1):93-7. 2003
|
| 31 | POMGNT1, WLKWS4
|
| Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies.
|
| Michele DE, Barresi R, Kanagawa M, Saito F, Cohn RD, Satz JS, Dollar J, Nishino I, Kelley RI, Somer H, Straub V, Mathews KD, Moore SA, Campbell KP.
|
| Nature 418(6896):417-22. 2002
|
| 32 | DAG1, POMGNT1, WLKWS4
|
| Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy.
|
| Moore SA, Saito F, Chen J, Michele DE, Henry MD, Messing A, Cohn RD, Ross-Barta SE, Westra S, Williamson RA, Hoshi T, Campbell KP.
|
| Nature 418(6896):422-5. 2002
|
| 33 | POMGNT1
|
| Cloning and expression of a novel UDP-GlcNAc:alpha-D-mannoside beta1,2-N-acetylglucosaminyltransferase homologous to UDP-GlcNAc:alpha-3-D-mannoside beta1,2-N-acetylglucosaminyltransferase I.
|
| Zhang W, Betel D, Schachter H.
|
| Biochem J 361(Pt 1):153-62. 2002
|
| 34 | POMGNT1
|
| Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.
|
| Yoshida A, Kobayashi K, Manya H, Taniguchi K, Kano H, Mizuno M, Inazu T, Mitsuhashi H, Takahashi S, Takeuchi M, Herrmann R, Straub V, Talim B, Voit T, Topaloglu H, Toda T, Endo T.
|
| Dev Cell 1(5):717-24. 2001
|