Large

Summary

Gene Symbol: Large
Description: like-glycosyltransferase
Alias: BPFD#36, Gyltl1a, Mbp-1, Mbp1, enr, fg, froggy, mKIAA0609, myd, OTTMUSP00000039267, acetylglucosaminyltransferase-like 1A, glycosyltransferase-like protein LARGE1, myodystrophy
Species: mouse

Publications

  1. Naked axons in myodystrophic mice
    H B Rayburn
    Brain Res 146:380-4
  2. Mutation of Large, which encodes a putative glycosyltransferase, in an animal model of muscular dystrophy
    Prabhjit K Grewal
    Institute of Genetics, Queen s Medical Centre, The University of Nottingham, UK
    Biochim Biophys Acta 1573:216-24
  3. Glycosylation defects: a new mechanism for muscular dystrophy?
    Prabhjit K Grewal
    Institute of Genetics, Queen s Medical Centre, University of Nottingham, Nottingham, UK
    Hum Mol Genet 12:R259-64
  4. LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies
    Rita Barresi
    Howard Hughes Medical Institute, Department of Physiology and Biophysics, Roy J and Lucille A Carver College of Medicine, University of Iowa, Iowa City, Iowa 52242, USA
    Nat Med 10:696-703
  5. The sarcolemma in the Large(myd) mouse
    Patrick W Reed
    Department of Physiology, University of Maryland School of Medicine, 660 West Redwood Street, Baltimore, Maryland 21201, USA
    Muscle Nerve 30:585-95
  6. Mouse large can modify complex N- and mucin O-glycans on alpha-dystroglycan to induce laminin binding
    Santosh K Patnaik
    Department of Cell Biology, Albert Einstein College of Medicine, New York, New York 10461, USA
    J Biol Chem 280:20851-9
  7. Disruption of the mouse Large gene in the enr and myd mutants results in nerve, muscle, and neuromuscular junction defects
    Eleni N Levedakou
    Jack Miller Center for Peripheral Neuropathy, Department of Neurology, MC 2030, The University of Chicago, 5841 South Maryland Avenue, Chicago, IL 60637, USA
    Mol Cell Neurosci 28:757-69
  8. Characterization of the LARGE family of putative glycosyltransferases associated with dystroglycanopathies
    Prabhjit K Grewal
    Institute of Genetics, Queen s Medical Centre, University of Nottingham, Nottingham NG7 2UH, UK
    Glycobiology 15:912-23
  9. Disruption of perlecan binding and matrix assembly by post-translational or genetic disruption of dystroglycan function
    Motoi Kanagawa
    Department of Physiology and Biophysics, Howard Hughes Medical Institute, Roy J and Lucille A Carver College of Medicine, The University of Iowa, 400 Eckstein Medical Building, Iowa City, IA 52242, USA
    FEBS Lett 579:4792-6
  10. Ocular abnormalities in Large(myd) and Large(vls) mice, spontaneous models for muscle, eye, and brain diseases
    Yongsuk Lee
    The Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA
    Mol Cell Neurosci 30:160-72

Scientific Experts

  • D Burnett
  • J W Bartsch
  • Yongsuk Lee
  • Motoi Kanagawa
  • Prabhjit K Grewal
  • Kevin P Campbell
  • Jane E Hewitt
  • Rita Barresi
  • Daniel E Michele
  • Jakob S Satz
  • Felipe A Court
  • P K Grewal
  • Jennifer Rurak
  • Aaron M Beedle
  • Khyobeni Mozhui
  • K D Mathews
  • Qiang Qu
  • Santosh K Patnaik
  • Eleni N Levedakou
  • Yongsuk Lee
  • Patrick W Reed
  • Katherine D Mathews
  • Ichizo Nishino
  • Steven A Moore
  • Ronald D Cohn
  • Paul J Holzfeind
  • K A Mills
  • Tatsushi Toda
  • Kay Davies
  • Akemi Nishimoto
  • Satoshi Takeda
  • Tomohiro Chiyonobu
  • Jun ichi Miyazaki
  • Fan Wang
  • Youichi Tajima
  • Yuko Miyagoe Suzuki
  • Nobuhiro Fujikake
  • M Laura Feltri
  • Masaji Tachikawa
  • Lawrence Wrabetz
  • Bruce L Patton
  • Zhongpeng Lu
  • Mariko Taniguchi
  • Kazuhiro Kobayashi
  • Antonino Uncini
  • Tamao Endo
  • Yoshitaka Nagai
  • Fumi Tashiro
  • M Peyrard
  • J E Hewitt
  • Bharat Joshi
  • Hakima Moukhles
  • Geoffroy Noel
  • Leona Lui
  • Patricia M Nienaber
  • Andrew Holmes
  • Kristin M Hamre
  • Robert W Williams
  • Lu Lu
  • James E Crandall
  • Tuanlian Luo
  • Peter J McCaffery
  • Frances I Smith
  • Betty Soliven
  • Claudia A Browning
  • Takako Sasaki
  • Patsy M Nishina
  • Rupert Timpl
  • Pamela Stanley
  • Shuhei Kameya
  • Jennifer M McLaughlan
  • Terry P Maddatu
  • Hajime Kusano
  • Jennifer Hsu
  • Brian Popko
  • R L Schelper
  • Christopher J Moore
  • Xiang-Jun Chen
  • H L Bailey
  • J C Murray
  • Xiang Jun Chen
  • Michael D Henry
  • Gregory A Cox
  • Neal S Peachey
  • Richard S Smith
  • Wanda Hicks
  • Harry Schachter
  • Hollie A Harper
  • Jan P Dumanski
  • Sherri A Dovico

Detail Information

Publications34

  1. Naked axons in myodystrophic mice
    H B Rayburn
    Brain Res 146:380-4
  2. Mutation of Large, which encodes a putative glycosyltransferase, in an animal model of muscular dystrophy
    Prabhjit K Grewal
    Institute of Genetics, Queen s Medical Centre, The University of Nottingham, UK
    Biochim Biophys Acta 1573:216-24
    The myodystrophy (myd) mutation arose spontaneously and has an autosomal recessive mode of inheritance. Homozygous mutant mice display a severe, progressive muscular dystrophy...
  3. Glycosylation defects: a new mechanism for muscular dystrophy?
    Prabhjit K Grewal
    Institute of Genetics, Queen s Medical Centre, University of Nottingham, Nottingham, UK
    Hum Mol Genet 12:R259-64
    ..Finally, the causative gene in the myodystrophy (myd) mouse is a putative bifunctional glycosyltransferase (Large)...
  4. LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies
    Rita Barresi
    Howard Hughes Medical Institute, Department of Physiology and Biophysics, Roy J and Lucille A Carver College of Medicine, University of Iowa, Iowa City, Iowa 52242, USA
    Nat Med 10:696-703
    ..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 ..
  5. The sarcolemma in the Large(myd) mouse
    Patrick W Reed
    Department of Physiology, University of Maryland School of Medicine, 660 West Redwood Street, Baltimore, Maryland 21201, USA
    Muscle Nerve 30:585-95
    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...
  6. Mouse large can modify complex N- and mucin O-glycans on alpha-dystroglycan to induce laminin binding
    Santosh K Patnaik
    Department of Cell Biology, Albert Einstein College of Medicine, New York, New York 10461, USA
    J Biol Chem 280:20851-9
    The human LARGE gene encodes a protein with two putative glycosyltransferase domains and is required for the generation of functional alpha-dystroglycan (alpha-DG)...
  7. Disruption of the mouse Large gene in the enr and myd mutants results in nerve, muscle, and neuromuscular junction defects
    Eleni N Levedakou
    Jack Miller Center for Peripheral Neuropathy, Department of Neurology, MC 2030, The University of Chicago, 5841 South Maryland Avenue, Chicago, IL 60637, USA
    Mol Cell Neurosci 28:757-69
    ..insertion manifests impaired peripheral nerve regeneration due to defects in Schwann cells and resembles the myodystrophy (Large(myd)) phenotype...
  8. Characterization of the LARGE family of putative glycosyltransferases associated with dystroglycanopathies
    Prabhjit K Grewal
    Institute of Genetics, Queen s Medical Centre, University of Nottingham, Nottingham NG7 2UH, UK
    Glycobiology 15:912-23
    The Large(myd) mouse has a loss-of-function mutation in the putative glycosyltransferase gene Large. Mutations in the human homolog (LARGE) have been described in a form of congenital muscular dystrophy (MDC1D)...
  9. Disruption of perlecan binding and matrix assembly by post-translational or genetic disruption of dystroglycan function
    Motoi Kanagawa
    Department of Physiology and Biophysics, Howard Hughes Medical Institute, Roy J and Lucille A Carver College of Medicine, The University of Iowa, 400 Eckstein Medical Building, Iowa City, IA 52242, USA
    FEBS Lett 579:4792-6
    Dystroglycan is a cell-surface matrix receptor that requires LARGE-dependent glycosylation for laminin binding...
  10. Ocular abnormalities in Large(myd) and Large(vls) mice, spontaneous models for muscle, eye, and brain diseases
    Yongsuk Lee
    The Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA
    Mol Cell Neurosci 30:160-72
    Here we demonstrate previously unreported ocular defects in mice homozygous for a new allele of the Large gene, veils, and for Large(myd) mice...
  11. Defects in tangential neuronal migration of pontine nuclei neurons in the Largemyd mouse are associated with stalled migration in the ventrolateral hindbrain
    Qiang Qu
    University of Massachusetts Medical School, Shriver Center, 200 Trapelo Road, Waltham, MA 02452, USA
    Eur J Neurosci 23:2877-86
    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)...
  12. Absence of the basilar pons in mice lacking a functional Large glycosyltransferase gene suggests a defect in pontine neuron migration
    E David Litwack
    Department of Anatomy and Neurobiology, University of Maryland School of Medicine, 20 Penn Street, HSF2 S251, Baltimore, MD 21201, USA
    Brain Res 1117:12-7
    ..In veils (Large(vls)) mice, which carry a loss-of-function mutation in the Large glycosyltransferase gene, the basilar pons is ..
  13. Genetic and structural analysis of the basolateral amygdala complex in BXD recombinant inbred mice
    Khyobeni Mozhui
    Department of Anatomy and Neurobiology, University of Tennessee Health Science Center, 855 Monroe Avenue, Memphis, TN 38163, USA
    Behav Genet 37:223-43
    ..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...
  14. Fukutin-related protein associates with the sarcolemmal dystrophin-glycoprotein complex
    Aaron M Beedle
    Howard Hughes Medical Institute HHMI, Departments of Molecular Physiology, University of Iowa Carver College of Medicine, Iowa City, Iowa 52242, USA
    J Biol Chem 282:16713-7
    ..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...
  15. Distribution of potassium ion and water permeable channels at perivascular glia in brain and retina of the Large(myd) mouse
    Jennifer Rurak
    Department of Cellular and Physiological Sciences, University of British Columbia, Vancouver, British Columbia, Canada
    J Neurochem 103:1940-53
    ..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...
  16. Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy
    Motoi Kanagawa
    Division of Clinical Genetics, Department of Medical Genetics, Osaka University Graduate School of Medicine, Suita, Osaka, Japan
    Hum Mol Genet 18:621-31
    ..In contrast, intact alpha-dystroglycan is undetectable in the dystrophic Large(myd) mouse, and laminin-binding activity is markedly reduced...
  17. Clinical pathology accreditation: standards for the medical laboratory
    D Burnett
    Lindens Lodge, Bradford Place, Penarth CF64 1LA, UK
    J Clin Pathol 55:729-33
    ..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...
  18. 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
    Paul J Holzfeind
    Neuromuscular Research Department, Institute of Anatomy, University of Vienna Medical School, 1090 Vienna, Austria
    Hum Mol Genet 11:2673-87
    ..a deletion in the Large gene, encoding a putative glycosyltransferase, is the molecular defect underlying the myodystrophy (previously myd; now Large(myd)) mouse...
  19. Myodystrophy, a new myopathy on chromosome 8 of the mouse
    P W Lane
    J Hered 67:135-8
    ..b>Myodystrophy is located on chromosome 8; it is linked to Os with about 6 percent and to Eso with about 37 percent ..
  20. Institutionalization, deinstitutionalization and the adversary process
    D L Bazelon
    Columbia Law Rev 75:897-912
  21. Ca2+ capacity and uptake rate in skinned fibers of myodystrophic muscle
    B A Mobley
    Exp Neurol 87:137-46
    ....
  22. Characterization of ATPase in sarcoplasmic reticulum from two strains of dystrophic mice
    M A Neymark
    Muscle Nerve 3:316-25
    ..in sarcoplasmic reticulum (SR) membranes prepared from two animal models of muscular dystrophy, myodystrophic (myd/myd) and strain 129 dystrophic (129 dy/dy) mice...
  23. Impaired peripheral nerve regeneration in a mutant strain of mice (Enr) with a Schwann cell defect
    E M Rath
    Brain and Development Research Center, University of North Carolina, Chapel Hill 27599 7250, USA
    J Neurosci 15:7226-37
    ..remain in Enr/Enr animals as evidenced by the relatively frequent ultrastructural finding of unmyelinated large diameter axons in the regenerating nerves...
  24. Autosomal recessive neuromuscular disorder in a transgenic line of mice
    D Kelly
    Brain and Development Research Center, University of North Carolina, Chapel Hill 27599
    J Neurosci 14:198-207
    ..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 ..
  25. Insertional mutagenesis inducing hypomyelination in transgenic mice
    J M Orian
    Neuroscience Research Laboratories, Royal Melbourne Hospital, University of Melbourne, Parkville, Victoria, Australia
    J Neurosci Res 39:604-12
    ..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...
  26. Phenotypic and pathologic evaluation of the myd mouse. A candidate model for facioscapulohumeral dystrophy
    K D Mathews
    University of Iowa College of Medicine, Department of Pediatrics, Iowa City, USA
    J Neuropathol Exp Neurol 54:601-6
    ..Distal 4q has homology with a region of mouse chromosome 8 to which a mouse mutant, myodystrophy (myd), has been mapped...
  27. Genetic mapping near the myd locus on mouse chromosome 8
    K A Mills
    Department of Pediatrics, University of Iowa, Iowa City 52242, USA
    Mamm Genome 6:278-80
    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)...
  28. Mouse myodystrophy (myd) mutation: refined mapping in an interval flanked by homology with distal human 4q
    K D Mathews
    University of Iowa College of Medicine, Department of Pediatrics, Iowa City, USA
    Muscle Nerve 2:S98-102
    b>Myodystrophy (myd) is an autosomal-recessive mouse mutation with dystrophic skeletal muscle...
  29. The mouse homolog of FRG1, a candidate gene for FSHD, maps proximal to the myodystrophy mutation on chromosome 8
    P K Grewal
    School of Biological Sciences, The University of Manchester, 3 239 Stopford Building, Oxford Road, Manchester, M13 9PT, UK
    Mamm Genome 8:394-8
    ..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...
  30. 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
    J W Bartsch
    Developmental Biology Unit, University of Bielefeld, Germany
    Genomics 49:129-32
    ..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.
  31. The human LARGE gene from 22q12.3-q13.1 is a new, distinct member of the glycosyltransferase gene family
    M Peyrard
    Department of Molecular Medicine, Karolinska Hospital, S 171 76 Stockholm, Sweden
    Proc Natl Acad Sci U S A 96:598-603
    ..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...
  32. Mutant glycosyltransferase and altered glycosylation of alpha-dystroglycan in the myodystrophy mouse
    P K Grewal
    Institute of Genetics, Queen s Medical Centre, University of Nottingham, Nottingham NG7 2UH, UK
    Nat Genet 28:151-4
    ..The mouse myodystrophy (myd) mutation produces an autosomal recessive, neuromuscular phenotype...
  33. Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies
    Daniel E Michele
    Howard Hughes Medical Institute, Department of Physiology and Biophysics, University of Iowa, Iowa City, Iowa 52242 1101, USA
    Nature 418:417-22
    ..functional disruption of alpha-dystroglycan is recapitulated in the muscle and central nervous system of mutant myodystrophy (myd) mice...
  34. A laminin-2, dystroglycan, utrophin axis is required for compartmentalization and elongation of myelin segments
    Felipe A Court
    San Raffaele Scientific Institute, Department of Genetics and Cell Biology, 20132 Milan, Italy
    J Neurosci 29:3908-19
    ..Other cell types may exploit dystroglycan complexes in similar fashions to create barriers and compartments...