| 1 | GYLTL1B, LARGE
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| Loss of LARGE2 disrupts functional glycosylation of α-dystroglycan in prostate cancer.
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| Esser AK, Miller MR, Huang Q, Meier MM, Beltran-Valero de Bernabé D, Stipp CS, Campbell KP, Lynch CF, Smith BJ, Cohen MB, Henry MD.
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| J Biol Chem 288(4):2132-42. doi: 10.1074/jbc.M112.432807. Epub 2012 Dec 6.
2013
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| 2 | GYLTL1B, LARGE
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| Xylosyl- and glucuronyltransferase functions of LARGE in α-dystroglycan modification are conserved in LARGE2.
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| Inamori K, Hara Y, Willer T, Anderson ME, Zhu Z, Yoshida-Moriguchi T, Campbell KP.
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| Glycobiology 23(3):295-302. doi: 10.1093/glycob/cws152. Epub 2012 Nov 2.
2013
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| 3 | DAG1, LARGE
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| Dystroglycan function requires xylosyl- and glucuronyltransferase activities of LARGE.
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| Inamori K, Yoshida-Moriguchi T, Hara Y, Anderson ME, Yu L, Campbell KP.
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| Science 335(6064):93-6. doi: 10.1126/science.1214115.
2012
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| 4 | LARGE
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| Differential glycosylation of {alpha}-dystroglycan and proteins other than {alpha}-dystroglycan by LARGE.
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| Zhang P, Hu H.
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| Glycobiology lycobiology. 2011 Sep 19. [Epub ahead of print]
2011
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| 5 | LARGE, MDC1D
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| Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene.
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| Clarke NF, Maugenre S, Vandebrouck A, Urtizberea JA, Willer T, Peat RA, Gray F, Bouchet C, Manya H, Vuillaumier-Barrot S, Endo T, Chouery E, Campbell KP, Mégarbané A, Guicheney P.
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| Eur J Hum Genet 19(4):452-7. Epub 2011 Jan 19.
2011
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| 6 | LARGE
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| Transgenic overexpression of LARGE induces α-dystroglycan hyperglycosylation in skeletal and cardiac muscle.
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| Brockington M, Torelli S, Sharp PS, Liu K, Cirak S, Brown SC, Wells DJ, Muntoni F.
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| PLoS One 5(12):e14434.
2010
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| 7 | DAG1, LARGE
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| Loss of alpha-dystroglycan laminin binding in epithelium-derived cancers is caused by silencing of LARGE.
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| de Bernabé DB, Inamori K, Yoshida-Moriguchi T, Weydert CJ, Harper HA, Willer T, Henry MD, Campbell KP.
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| J Biol Chem 284(17):11279-84. Epub 2009 Feb 24. 2009
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| 8 | 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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| 9 | 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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| 10 | LARGE, WLKWS3
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| Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.
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| van Reeuwijk J, Grewal PK, Salih MA, Beltran-Valero de Bernabe D, McLaughlan JM, Michielse CB, Herrmann R, Hewitt JE, Steinbrecher A, Seidahmed MZ, Shaheed MM, Abomelha A, Brunner HG, van Bokhoven H, Voit T.
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| Hum Genet 121(6):685-90. Epub 2007 Apr 14. 2007
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| 11 | 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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| 12 | LARGE, MDC1D, GYLTL1B
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| Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy.
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| Brockington M, Torelli S, Prandini P, Boito C, Dolatshad NF, Longman C, Brown SC, Muntoni F.
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| Hum Mol Genet 14(5):657-65. Epub 2005 Jan 20. 2005
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| 13 | GYLTL1B, LARGE
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| LARGE2 facilitates the maturation of alpha-dystroglycan more effectively than LARGE.
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| Fujimura K, Sawaki H, Sakai T, Hiruma T, Nakanishi N, Sato T, Ohkura T, Narimatsu H.
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| Biochem Biophys Res Commun 329(3):1162-71. 2005
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| 14 | LARGE, DAG1
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| Molecular recognition by LARGE is essential for expression of functional dystroglycan.
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| Kanagawa M, Saito F, Kunz S, Yoshida-Moriguchi T, Barresi R, Kobayashi YM, Muschler J, Dumanski JP, Michele DE, Oldstone MB, Campbell KP.
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| Cell 117(7):953-64. 2004
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| 15 | LARGE, MDC1D
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| LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies.
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| Barresi R, Michele DE, Kanagawa M, Harper HA, Dovico SA, Satz JS, Moore SA, Zhang W, Schachter H, Dumanski JP, Cohn RD, Nishino I, Campbell KP.
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| Nat Med 10(7):696-703. Epub 2004 Jun 06. 2004
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| 16 | LARGE, MDC1D
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| Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan.
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| Longman C, Brockington M, Torelli S, Jimenez-Mallebrera C, Kennedy C, Khalil N, Feng L, Saran RK, Voit T, Merlini L, Sewry CA, Brown SC, Muntoni F.
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| Hum Mol Genet 12(21):2853-2861. Epub 2003 Sep 09. 2003
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| 17 | LARGE
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| The human LARGE gene from 22q12.3-q13.1 is a new, distinct member of the glycosyltransferase gene family.
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| Peyrard M, et al.
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| Proc Natl Acad Sci U S A 96 : 598-603. 1999
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