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Liu, D. LARGE1 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/4374 (accessed on 29 September 2026).
Liu D. LARGE1 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/4374. Accessed September 29, 2026.
Liu, Dean. "LARGE1 Gene" Encyclopedia, https://encyclopedia.pub/entry/4374 (accessed September 29, 2026).
Liu, D. (2020, December 23). LARGE1 Gene. In Encyclopedia. https://encyclopedia.pub/entry/4374
Liu, Dean. "LARGE1 Gene." Encyclopedia. Web. 23 December, 2020.
LARGE1 Gene
Edit

LARGE xylosyl- and glucuronyltransferase 1

genes

References

  1. Inamori K, Willer T, Hara Y, Venzke D, Anderson ME, Clarke NF, Guicheney P,Bönnemann CG, Moore SA, Campbell KP. Endogenous glucuronyltransferase activity ofLARGE or LARGE2 required for functional modification of α-dystroglycan in cellsand tissues. J Biol Chem. 2014 Oct 10;289(41):28138-48. doi:10.1074/jbc.M114.597831.
  2. Inamori K, Yoshida-Moriguchi T, Hara Y, Anderson ME, Yu L, Campbell KP.Dystroglycan function requires xylosyl- and glucuronyltransferase activities ofLARGE. Science. 2012 Jan 6;335(6064):93-6. doi: 10.1126/science.1214115.
  3. Longman C, Brockington M, Torelli S, Jimenez-Mallebrera C, Kennedy C, KhalilN, Feng L, Saran RK, Voit T, Merlini L, Sewry CA, Brown SC, Muntoni F. Mutations in the human LARGE gene cause MDC1D, a novel form of congenital musculardystrophy with severe mental retardation and abnormal glycosylation ofalpha-dystroglycan. Hum Mol Genet. 2003 Nov 1;12(21):2853-61.
  4. van Reeuwijk J, Grewal PK, Salih MA, Beltrán-Valero de Bernabé D, McLaughlanJM, Michielse CB, Herrmann R, Hewitt JE, Steinbrecher A, Seidahmed MZ, ShaheedMM, Abomelha A, Brunner HG, van Bokhoven H, Voit T. Intragenic deletion in theLARGE gene causes Walker-Warburg syndrome. Hum Genet. 2007 Jul;121(6):685-90.
  5. Vuillaumier-Barrot S, Bouchet-Seraphin C, Chelbi M, Eude-Caye A, Charluteau E,Besson C, Quentin S, Devisme L, Le Bizec C, Landrieu P, Goldenberg A, Maincent K,Loget P, Boute O, Gilbert-Dussardier B, Encha-Razavi F, Gonzales M, Grandchamp B,Seta N. Intragenic rearrangements in LARGE and POMGNT1 genes in severedystroglycanopathies. Neuromuscul Disord. 2011 Nov;21(11):782-90. doi:10.1016/j.nmd.2011.06.001.
  6. Yoshida-Moriguchi T, Campbell KP. Matriglycan: a novel polysaccharide thatlinks dystroglycan to the basement membrane. Glycobiology. 2015 Jul;25(7):702-13.doi: 10.1093/glycob/cwv021.
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Update Date: 23 Dec 2020
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