Large1

Summary

Gene Symbol: Large1
Description: LARGE xylosyl- and glucuronyltransferase 1
Alias: BPFD#36, Gyltl1a, Large, Mbp-1, Mbp1, enr, froggy, myd, LARGE xylosyl- and glucuronyltransferase 1, glycosyltransferase-like protein LARGE1, acetylglucosaminyltransferase-like 1A, like-glycosyltransferase, myodystrophy
Species: mouse
Products:     Large1

Top Publications

  1. Lane P, Beamer T, Myers D. Myodystrophy, a new myopathy on chromosome 8 of the mouse. J Hered. 1976;67:135-8 pubmed
    ..b>Myodystrophy is located on chromosome 8; it is linked to Os with about 6 percent and to Eso with about 37 percent ..
  2. Kuga A, Kanagawa M, Sudo A, Chan Y, Tajiri M, Manya H, et al. Absence of post-phosphoryl modification in dystroglycanopathy mouse models and wild-type tissues expressing non-laminin binding form of ?-dystroglycan. J Biol Chem. 2012;287:9560-7 pubmed publisher
    ..In this study, we use several dystroglycanopathy mouse models to demonstrate that, in addition to fukutin and LARGE, FKRP (fukutin-related protein) is also involved in the post-phosphoryl modification of O-mannose on ?-DG...
  3. Inamori K, Yoshida Moriguchi T, Hara Y, Anderson M, Yu L, Campbell K. Dystroglycan function requires xylosyl- and glucuronyltransferase activities of LARGE. Science. 2012;335:93-6 pubmed publisher
    Posttranslational modification of alpha-dystroglycan (?-DG) by the like-acetylglucosaminyltransferase (LARGE) is required for it to function as an extracellular matrix (ECM) receptor...
  4. Yoshida Moriguchi T, Yu L, Stalnaker S, Davis S, Kunz S, Madson M, et al. O-mannosyl phosphorylation of alpha-dystroglycan is required for laminin binding. Science. 2010;327:88-92 pubmed publisher
    ..that patients with muscle-eye-brain disease and Fukuyama congenital muscular dystrophy, as well as mice with myodystrophy, commonly have defects in a postphosphoryl modification of this phosphorylated O-linked mannose, and that this ..
  5. Han R, Kanagawa M, Yoshida Moriguchi T, Rader E, Ng R, Michele D, et al. Basal lamina strengthens cell membrane integrity via the laminin G domain-binding motif of alpha-dystroglycan. Proc Natl Acad Sci U S A. 2009;106:12573-9 pubmed publisher
    ..These phenotypes of dystroglycan-null muscles are recapitulated by Large(myd) muscles, which have an intact dystrophin-glycoprotein complex and lack only the laminin globular domain-..
  6. Herbst R, Iskratsch T, Unger E, Bittner R. Aberrant development of neuromuscular junctions in glycosylation-defective Large(myd) mice. Neuromuscul Disord. 2009;19:366-78 pubmed publisher
    Mice deficient in the glycosyltransferase Large are characterized by severe muscle and central nervous system abnormalities...
  7. Kanagawa M, Nishimoto A, Chiyonobu T, Takeda S, Miyagoe Suzuki Y, Wang F, et al. Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy. Hum Mol Genet. 2009;18:621-31 pubmed publisher
    ..In contrast, intact alpha-dystroglycan is undetectable in the dystrophic Large(myd) mouse, and laminin-binding activity is markedly reduced...
  8. Kanagawa M, Michele D, Satz J, Barresi R, Kusano H, Sasaki T, et al. Disruption of perlecan binding and matrix assembly by post-translational or genetic disruption of dystroglycan function. FEBS Lett. 2005;579:4792-6 pubmed
    Dystroglycan is a cell-surface matrix receptor that requires LARGE-dependent glycosylation for laminin binding...
  9. Patnaik S, Stanley P. Mouse large can modify complex N- and mucin O-glycans on alpha-dystroglycan to induce laminin binding. J Biol Chem. 2005;280:20851-9 pubmed
    The human LARGE gene encodes a protein with two putative glycosyltransferase domains and is required for the generation of functional alpha-dystroglycan (alpha-DG)...

More Information

Publications67

  1. Barresi R, Michele D, Kanagawa M, Harper H, Dovico S, Satz J, et al. LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies. Nat Med. 2004;10:696-703 pubmed
    ..We have investigated changes in the processing and function of alpha-DG resulting from genetic manipulation of LARGE, the putative glycosyltransferase mutated both in Large(myd) mice and in humans with congenital muscular dystrophy ..
  2. Michele D, Barresi R, Kanagawa M, Saito F, Cohn R, Satz J, et al. Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies. Nature. 2002;418:417-22 pubmed
    ..functional disruption of alpha-dystroglycan is recapitulated in the muscle and central nervous system of mutant myodystrophy (myd) mice...
  3. Peyrard M, Seroussi E, Sandberg Nordqvist A, Xie Y, Han F, Fransson I, et al. The human LARGE gene from 22q12.3-q13.1 is a new, distinct member of the glycosyltransferase gene family. Proc Natl Acad Sci U S A. 1999;96:598-603 pubmed
    ..We characterized a new member of the N-acetylglucosaminyltransferase gene family, the LARGE gene. It occupies >664 kilobases and is one of the largest human genes...
  4. Grewal P, Holzfeind P, Bittner R, Hewitt J. Mutant glycosyltransferase and altered glycosylation of alpha-dystroglycan in the myodystrophy mouse. Nat Genet. 2001;28:151-4 pubmed
    ..The mouse myodystrophy (myd) mutation produces an autosomal recessive, neuromuscular phenotype...
  5. Holzfeind P, Grewal P, Reitsamer H, Kechvar J, Lassmann H, Hoeger H, et al. Skeletal, cardiac and tongue muscle pathology, defective retinal transmission, and neuronal migration defects in the Large(myd) mouse defines a natural model for glycosylation-deficient muscle - eye - brain disorders. Hum Mol Genet. 2002;11:2673-87 pubmed
    ..a deletion in the Large gene, encoding a putative glycosyltransferase, is the molecular defect underlying the myodystrophy (previously myd; now Large(myd)) mouse...
  6. Grewal P, Hewitt J. Mutation of Large, which encodes a putative glycosyltransferase, in an animal model of muscular dystrophy. Biochim Biophys Acta. 2002;1573:216-24 pubmed
    The myodystrophy (myd) mutation arose spontaneously and has an autosomal recessive mode of inheritance. Homozygous mutant mice display a severe, progressive muscular dystrophy...
  7. Kabaeva Z, Meekhof K, Michele D. Sarcolemma instability during mechanical activity in Largemyd cardiac myocytes with loss of dystroglycan extracellular matrix receptor function. Hum Mol Genet. 2011;20:3346-55 pubmed publisher
    ..b>Large(myd) mice have a null mutation in a gene encoding the glycosyltransferase LARGE that results in abnormal ..
  8. Kanagawa M, Saito F, Kunz S, Yoshida Moriguchi T, Barresi R, Kobayashi Y, et al. Molecular recognition by LARGE is essential for expression of functional dystroglycan. Cell. 2004;117:953-64 pubmed
    ..Posttranslational modification of alpha-dystroglycan by glycosyltransferase, LARGE, occurs within the mucin-like domain, but the N-terminal domain interacts with LARGE, defining an intracellular ..
  9. Lee Y, Kameya S, Cox G, Hsu J, Hicks W, Maddatu T, et al. Ocular abnormalities in Large(myd) and Large(vls) mice, spontaneous models for muscle, eye, and brain diseases. Mol Cell Neurosci. 2005;30:160-72 pubmed
    Here we demonstrate previously unreported ocular defects in mice homozygous for a new allele of the Large gene, veils, and for Large(myd) mice...
  10. Martins P, Ayub Guerrieri D, Martins Bach A, Onofre Oliveira P, Malheiros J, Tannús A, et al. Dmdmdx/Largemyd: a new mouse model of neuromuscular diseases useful for studying physiopathological mechanisms and testing therapies. Dis Model Mech. 2013;6:1167-74 pubmed publisher
    ..The mouse model for congenital myodystrophy type 1D, Large(myd), harbors a mutation in the glycosyltransferase Large gene and displays a severe phenotype...
  11. Grewal P, McLaughlan J, Moore C, Browning C, Hewitt J. Characterization of the LARGE family of putative glycosyltransferases associated with dystroglycanopathies. Glycobiology. 2005;15:912-23 pubmed
    ..We suggest that vertebrate LARGE orthologs be referred to as LARGE1. RT-PCR, dot-blot, and northern analysis indicated that LARGE2 has a more restricted tissue-expression profile ..
  12. Willer T, Inamori K, Venzke D, Harvey C, Morgensen G, Hara Y, et al. The glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated α-dystroglycan functional glycosylation. elife. 2014;3: pubmed publisher
    ..acid β1,4-xylose disaccharide synthesized by B4GAT1 acts as an acceptor primer that can be elongated by LARGE with the ligand-binding heteropolysaccharide...
  13. Ou Yang M, Xu F, Liao M, Davis J, Robinson J, Van Nostrand W. N-terminal region of myelin basic protein reduces fibrillar amyloid-β deposition in Tg-5xFAD mice. Neurobiol Aging. 2015;36:801-11 pubmed publisher
    ..fibril formation, and this inhibitory activity was localized to the N-terminal residues 1-64, a fragment designated MBP1. Here, we show that the modest neuronal expression of a fusion protein of the biologically active MBP1 fragment and ..
  14. Mills K, Mathews K, Scherpbier Heddema T, Schelper R, Schmalzel R, Bailey H, et al. Genetic mapping near the myd locus on mouse chromosome 8. Mamm Genome. 1995;6:278-80 pubmed
    b>Myodystrophy (myd), an autosomal recessive mutation of the mouse characterized by progressive weakness and dystrophic muscle histology, maps to the central portion of Chromosome (Chr) 8 (Lane et al. J. Hered 67, 135, 1976)...
  15. Inamori K, Hara Y, Willer T, Anderson M, Zhu Z, Yoshida Moriguchi T, et al. Xylosyl- and glucuronyltransferase functions of LARGE in ?-dystroglycan modification are conserved in LARGE2. Glycobiology. 2013;23:295-302 pubmed publisher
    b>LARGE-dependent modification enables ?-dystroglycan (?-DG) to bind to its extracellular matrix ligands...
  16. Marshall J, Holmberg J, Chou E, Ocampo A, Oh J, Lee J, et al. Sarcospan-dependent Akt activation is required for utrophin expression and muscle regeneration. J Cell Biol. 2012;197:1009-27 pubmed publisher
    ..Our experiments reveal functions of utrophin in regeneration and new pathways that regulate utrophin expression at the cell surface. ..
  17. Li J, Yu M, Feng G, Hu H, Li X. Breaches of the pial basement membrane are associated with defective dentate gyrus development in mouse models of congenital muscular dystrophies. Neurosci Lett. 2011;505:19-24 pubmed publisher
    ..There are good mouse models for these CMDs that include POMGnT1 knockout, POMT2 knockout and Large(myd) mice with all exhibiting defects in dentate gyrus...
  18. Mobley B. Ca2+ capacity and uptake rate in skinned fibers of myodystrophic muscle. Exp Neurol. 1985;87:137-46 pubmed
  19. Hu Y, Li Z, Wu X, Lu Q. Large induces functional glycans in an O-mannosylation dependent manner and targets GlcNAc terminals on alpha-dystroglycan. PLoS ONE. 2011;6:e16866 pubmed publisher
    ..The fact that transient overexpression of LARGE, a putative glycosyltransferase, up-regulates the functional glycans on ?-DG to mediate its ligand binding implied ..
  20. Brockington M, Torelli S, Sharp P, Liu K, Cirak S, Brown S, et al. Transgenic overexpression of LARGE induces α-dystroglycan hyperglycosylation in skeletal and cardiac muscle. PLoS ONE. 2010;5:e14434 pubmed publisher
    b>LARGE is one of seven putative or demonstrated glycosyltransferase enzymes defective in a common group of muscular dystrophies with reduced glycosylation of α-dystroglycan...
  21. Bartsch J, Mukai H, Takahashi N, Ronsiek M, Fuchs S, Jockusch H, et al. The protein kinase N (PKN) gene PRKCL1/Prkcl1 maps to human chromosome 19p12-p13.1 and mouse chromosome 8 with close linkage to the myodystrophy (myd) mutation. Genomics. 1998;49:129-32 pubmed
    ..This region of mouse Chr 8 shows a scrambled syntenic conservation to human chromosomes 4q, 8p, and 19p. As the mouse mutation myodystrophy myd has been mapped to the same region, Prkcl1 is a candidate gene for myd.
  22. Bazelon D. Institutionalization, deinstitutionalization and the adversary process. Columbia Law Rev. 1975;75:897-912 pubmed
  23. Dwyer C, Baker E, Hu H, Matthews R. RPTP?/phosphacan is abnormally glycosylated in a model of muscle-eye-brain disease lacking functional POMGnT1. Neuroscience. 2012;220:47-61 pubmed publisher
  24. Whitmore C, Fernandez Fuente M, Booler H, Parr C, Kavishwar M, Ashraf A, et al. The transgenic expression of LARGE exacerbates the muscle phenotype of dystroglycanopathy mice. Hum Mol Genet. 2014;23:1842-55 pubmed publisher
    ..Like-acetylglucosaminyltransferase (LARGE) is a bifunctional glycosyltransferase previously shown to hyperglycosylate α-DG...
  25. Inamori K, Willer T, Hara Y, Venzke D, Anderson M, Clarke N, et al. Endogenous glucuronyltransferase activity of LARGE or LARGE2 required for functional modification of ?-dystroglycan in cells and tissues. J Biol Chem. 2014;289:28138-48 pubmed publisher
    Mutations in the LARGE gene have been identified in congenital muscular dystrophy (CMD) patients with brain abnormalities...
  26. Awano H, Blaeser A, Keramaris E, Xu L, Tucker J, Wu B, et al. Restoration of Functional Glycosylation of α-Dystroglycan in FKRP Mutant Mice Is Associated with Muscle Regeneration. Am J Pathol. 2015;185:2025-37 pubmed publisher
    ..is associated with muscle regeneration and dependent on the expression of both like-glycosyltransferase (LARGE) and partially functional FKRP...
  27. Rath E, Kelly D, Bouldin T, Popko B. Impaired peripheral nerve regeneration in a mutant strain of mice (Enr) with a Schwann cell defect. J Neurosci. 1995;15:7226-37 pubmed
    ..remain in Enr/Enr animals as evidenced by the relatively frequent ultrastructural finding of unmyelinated large diameter axons in the regenerating nerves...
  28. Court F, Hewitt J, Davies K, Patton B, Uncini A, Wrabetz L, et al. A laminin-2, dystroglycan, utrophin axis is required for compartmentalization and elongation of myelin segments. J Neurosci. 2009;29:3908-19 pubmed publisher
    ..Other cell types may exploit dystroglycan complexes in similar fashions to create barriers and compartments. ..
  29. Beedle A, Nienaber P, Campbell K. Fukutin-related protein associates with the sarcolemmal dystrophin-glycoprotein complex. J Biol Chem. 2007;282:16713-7 pubmed
    ..These data offer the first evidence of an FKRP complex in muscle and suggest that FKRP may influence the glycosylation status of dystroglycan from within the sarcolemmal dystrophin-glycoprotein complex. ..
  30. Qu Q, Crandall J, Luo T, McCaffery P, Smith F. Defects in tangential neuronal migration of pontine nuclei neurons in the Largemyd mouse are associated with stalled migration in the ventrolateral hindbrain. Eur J Neurosci. 2006;23:2877-86 pubmed
    The LARGE gene encodes a putative glycosyltransferase that is required for normal glycosylation of dystroglycan, and defects in LARGE can cause abnormal neuronal migration in congenital muscular dystrophy (CMD)...
  31. Groh S, Zong H, Goddeeris M, Lebakken C, Venzke D, Pessin J, et al. Sarcoglycan complex: implications for metabolic defects in muscular dystrophies. J Biol Chem. 2009;284:19178-82 pubmed publisher
  32. Grewal P, van Deutekom J, Mills K, Lemmers R, Mathews K, Frants R, et al. The mouse homolog of FRG1, a candidate gene for FSHD, maps proximal to the myodystrophy mutation on chromosome 8. Mamm Genome. 1997;8:394-8 pubmed
    ..Human Chr 4q35 exhibits synteny homology with the region of mouse Chr 8 containing the gene for the myodystrophy mutation (myd), a possible mouse homolog of FSHD...
  33. Mathews K, Mills K, Bailey H, Schelper R, Murray J. Mouse myodystrophy (myd) mutation: refined mapping in an interval flanked by homology with distal human 4q. Muscle Nerve Suppl. 1995;2:S98-102 pubmed
    b>Myodystrophy (myd) is an autosomal-recessive mouse mutation with dystrophic skeletal muscle...
  34. Burnett D, Blair C, Haeney M, Jeffcoate S, Scott K, Williams D. Clinical pathology accreditation: standards for the medical laboratory. J Clin Pathol. 2002;55:729-33 pubmed
    ..CPA plans to introduce these standards in the UK in 2003 following extensive consultation with professional bodies, piloting in selected laboratories, and training of assessors. ..
  35. Kanagawa M, Lu Z, Ito C, Matsuda C, Miyake K, Toda T. Contribution of dysferlin deficiency to skeletal muscle pathology in asymptomatic and severe dystroglycanopathy models: generation of a new model for Fukuyama congenital muscular dystrophy. PLoS ONE. 2014;9:e106721 pubmed publisher
    ..we have crossed dysferlin-deficient dysferlin(sjl/sjl) mice to the fukutin-knock-in fukutin(Hp/-) and Large-deficient Largemyd/myd mice, which are phenotypically distinct models of dystroglycanopathy...
  36. Pribiag H, Peng H, Shah W, Stellwagen D, Carbonetto S. Dystroglycan mediates homeostatic synaptic plasticity at GABAergic synapses. Proc Natl Acad Sci U S A. 2014;111:6810-5 pubmed publisher
    ..homeostatic scaling up of inhibitory synaptic strength, as does knockdown of like-acetylglucosaminyltransferase (LARGE)--a glycosyltransferase critical for DG function...
  37. Saito F, Kanagawa M, Ikeda M, Hagiwara H, Masaki T, Ohkuma H, et al. Overexpression of LARGE suppresses muscle regeneration via down-regulation of insulin-like growth factor 1 and aggravates muscular dystrophy in mice. Hum Mol Genet. 2014;23:4543-58 pubmed publisher
    ..Recent studies have shown that like-acetylglucosaminyltransferase (LARGE) strongly enhances the laminin-binding activity of ?-DG...
  38. Reed P, Mathews K, Mills K, Bloch R. The sarcolemma in the Large(myd) mouse. Muscle Nerve. 2004;30:585-95 pubmed
    In the Large(myd) mouse, dystroglycan is incompletely glycosylated and thus cannot bind its extracellular ligands, causing a muscular dystrophy that is usually lethal in early adulthood...
  39. Orian J, Mitchell A, Marshman W, Webb G, Ayers M, Grail D, et al. Insertional mutagenesis inducing hypomyelination in transgenic mice. J Neurosci Res. 1994;39:604-12 pubmed
    ..The 2-50 mice represent a unique model which will be ideal for investigating the molecular basis of myelin assembly and for developing gene therapy to promote remyelination in conditions such as MS. ..
  40. Rayburn H, Peterson A. Naked axons in myodystrophic mice. Brain Res. 1978;146:380-4 pubmed
  41. Kelly D, Chancellor K, Milatovich A, Francke U, Suzuki K, Popko B. Autosomal recessive neuromuscular disorder in a transgenic line of mice. J Neurosci. 1994;14:198-207 pubmed
    ..of these animals resemble those that occur in the spontaneous mouse mutants dystrophia muscularis and myodystrophy. Nevertheless, the chromosomal position of the transgene integration site, which was mapped by fluorescent in ..
  42. Zhang Z, Zhang P, Hu H. LARGE expression augments the glycosylation of glycoproteins in addition to ?-dystroglycan conferring laminin binding. PLoS ONE. 2011;6:e19080 pubmed publisher
    ..Among the identified genes, LARGE is of particular interest because its overexpression rescues glycosylation defects of ?-DG in mutations of not ..
  43. Litwack E, Lee Y, Mallott J. Absence of the basilar pons in mice lacking a functional Large glycosyltransferase gene suggests a defect in pontine neuron migration. Brain Res. 2006;1117:12-7 pubmed
    ..In veils (Large(vls)) mice, which carry a loss-of-function mutation in the Large glycosyltransferase gene, the basilar pons is ..
  44. Rurak J, Noel G, Lui L, Joshi B, Moukhles H. Distribution of potassium ion and water permeable channels at perivascular glia in brain and retina of the Large(myd) mouse. J Neurochem. 2007;103:1940-53 pubmed
    ..ECM ligand-binding to glycosylated sites on alpha-DG in the polarized distribution of these channels, we used the Large(myd) mouse, an animal model for dystroglycanopathies. We found that Kir4...
  45. Stalnaker S, Aoki K, Lim J, Porterfield M, Liu M, Satz J, et al. Glycomic analyses of mouse models of congenital muscular dystrophy. J Biol Chem. 2011;286:21180-90 pubmed publisher
    ..released from proteins of three different knock-out mouse models associated with O-mannosylation (POMGnT1, LARGE (Myd), and DAG1(-/-))...
  46. Hildyard J, Lacey E, Booler H, Hopkinson M, Wells D, Brown S. Transgenic Rescue of the LARGEmyd Mouse: A LARGE Therapeutic Window?. PLoS ONE. 2016;11:e0159853 pubmed publisher
    b>LARGE is a glycosyltransferase involved in glycosylation of ?-dystroglycan (?-DG)...
  47. Neymark M, Kopacz S, Lee C. Characterization of ATPase in sarcoplasmic reticulum from two strains of dystrophic mice. Muscle Nerve. 1980;3:316-25 pubmed
    ..in sarcoplasmic reticulum (SR) membranes prepared from two animal models of muscular dystrophy, myodystrophic (myd/myd) and strain 129 dystrophic (129 dy/dy) mice...
  48. Martins Bach A, Malheiros J, Matot B, Martins P, Almeida C, Caldeira W, et al. Quantitative T2 combined with texture analysis of nuclear magnetic resonance images identify different degrees of muscle involvement in three mouse models of muscle dystrophy: mdx, Largemyd and mdx/Largemyd. PLoS ONE. 2015;10:e0117835 pubmed publisher
    ..These new findings provide important noninvasive tools in the evaluation of the efficacy of new therapies, and most importantly, can be directly applied in human translational research. ..
  49. Michele D, Kabaeva Z, Davis S, Weiss R, Campbell K. Dystroglycan matrix receptor function in cardiac myocytes is important for limiting activity-induced myocardial damage. Circ Res. 2009;105:984-93 pubmed publisher
    ..The specific loss of dystroglycan function in cardiac myocytes causes the accumulation of large, clustered patches of myocytes with membrane damage, which increase in number in response to exercise-induced ..
  50. Hu H, Li J, Zhang Z, Yu M. Pikachurin interaction with dystroglycan is diminished by defective O-mannosyl glycosylation in congenital muscular dystrophy models and rescued by LARGE overexpression. Neurosci Lett. 2011;489:10-5 pubmed publisher
    ..plexiform layer of two mouse models, protein O-mannose N-acetylglucosaminyl transferase 1 (POMGnT1) knockout and Large(myd) mice. Overexpressing LARGE restored this interaction in POMGnT1 knockout cells...
  51. Grewal P, Hewitt J. Glycosylation defects: a new mechanism for muscular dystrophy?. Hum Mol Genet. 2003;12 Spec No 2:R259-64 pubmed
    ..Finally, the causative gene in the myodystrophy (myd) mouse is a putative bifunctional glycosyltransferase (Large)...
  52. Gumerson J, Davis C, Kabaeva Z, Hayes J, Brooks S, Michele D. Muscle-specific expression of LARGE restores neuromuscular transmission deficits in dystrophic LARGE(myd) mice. Hum Mol Genet. 2013;22:757-68 pubmed publisher
    ..Dystroglycan glycosylation is defective in LARGE(myd) (myd) mice as a result of a mutation in like-acetylglucosaminyltransferase (LARGE), a glycosyltransferase ..
  53. Ashikov A, Buettner F, Tiemann B, Gerardy Schahn R, Bakker H. LARGE2 generates the same xylose- and glucuronic acid-containing glycan structures as LARGE. Glycobiology. 2013;23:303-9 pubmed publisher
    b>LARGE (like-glycosyltransferase) and LARGE2 (glycosyltransferase-like 1B (GYLTL1B)) are homologous Golgi glycosyltransferases possessing two catalytic domains with homology to members of glycosyltransferase families GT8 and GT49...
  54. Levedakou E, Chen X, Soliven B, Popko B. Disruption of the mouse Large gene in the enr and myd mutants results in nerve, muscle, and neuromuscular junction defects. Mol Cell Neurosci. 2005;28:757-69 pubmed
    ..insertion manifests impaired peripheral nerve regeneration due to defects in Schwann cells and resembles the myodystrophy (Large(myd)) phenotype...
  55. Zhang P, Hu H. Differential glycosylation of ?-dystroglycan and proteins other than ?-dystroglycan by like-glycosyltransferase. Glycobiology. 2012;22:235-47 pubmed publisher
    Genetic defects in like-glycosyltransferase (LARGE) cause congenital muscular dystrophy with central nervous system manifestations...
  56. Mozhui K, Hamre K, Holmes A, Lu L, Williams R. Genetic and structural analysis of the basolateral amygdala complex in BXD recombinant inbred mice. Behav Genet. 2007;37:223-43 pubmed
    ..A quantitative trait locus (QTL) for the BLAc size is located on chromosome (Chr) 8 near the Large gene. This locus may also influence volume of other regions including hippocampus and cerebellum...
  57. Yagi H, Nakagawa N, Saito T, Kiyonari H, Abe T, Toda T, et al. AGO61-dependent GlcNAc modification primes the formation of functional glycans on ?-dystroglycan. Sci Rep. 2013;3:3288 pubmed publisher
    ..These findings provide a key missing link for understanding how the physiologically critical glycan motif is displayed on ?-DG and provides new insights on the pathological mechanisms of dystroglycanopathy. ..
  58. Mathews K, Rapisarda D, Bailey H, Murray J, Schelper R, Smith R. Phenotypic and pathologic evaluation of the myd mouse. A candidate model for facioscapulohumeral dystrophy. J Neuropathol Exp Neurol. 1995;54:601-6 pubmed
    ..Distal 4q has homology with a region of mouse chromosome 8 to which a mouse mutant, myodystrophy (myd), has been mapped...