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Search results 1 to 100 out of 121 for Large1

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Category: Publication
Type Details Score
Publication    
First Author: Walimbe AS
Year: 2020
Journal: Elife
Title: POMK regulates dystroglycan function via LARGE1-mediated elongation of matriglycan.
Volume: 9
Publication
First Author: Peyrard M
Year: 1999
Journal: Proc Natl Acad Sci U S A
Title: The human LARGE gene from 22q12.3-q13.1 is a new, distinct member of the glycosyltransferase gene family.
Volume: 96
Issue: 2
Pages: 598-603
Publication
First Author: Barresi R
Year: 2004
Journal: Nat Med
Title: LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies.
Volume: 10
Issue: 7
Pages: 696-703
Publication
First Author: Goddeeris MM
Year: 2013
Journal: Nature
Title: LARGE glycans on dystroglycan function as a tunable matrix scaffold to prevent dystrophy.
Volume: 503
Issue: 7474
Pages: 136-40
Publication
First Author: Kanagawa M
Year: 2004
Journal: Cell
Title: Molecular recognition by LARGE is essential for expression of functional dystroglycan.
Volume: 117
Issue: 7
Pages: 953-64
Publication
First Author: Grewal PK
Year: 2001
Journal: Nat Genet
Title: Mutant glycosyltransferase and altered glycosylation of alpha-dystroglycan in the myodystrophy mouse.
Volume: 28
Issue: 2
Pages: 151-4
Publication
First Author: Yonekawa T
Year: 2022
Journal: Sci Adv
Title: Large1 gene transfer in older myd mice with severe muscular dystrophy restores muscle function and greatly improves survival.
Volume: 8
Issue: 21
Pages: eabn0379
Publication
First Author: Inamori K
Year: 2013
Journal: Glycobiology
Title: Xylosyl- and glucuronyltransferase functions of LARGE in α-dystroglycan modification are conserved in LARGE2.
Volume: 23
Issue: 3
Pages: 295-302
Publication
First Author: Ashikov A
Year: 2013
Journal: Glycobiology
Title: LARGE2 generates the same xylose- and glucuronic acid-containing glycan structures as LARGE.
Volume: 23
Issue: 3
Pages: 303-9
Publication
First Author: Inamori K
Year: 2014
Journal: J Biol Chem
Title: Endogenous glucuronyltransferase activity of LARGE or LARGE2 required for functional modification of α-dystroglycan in cells and tissues.
Volume: 289
Issue: 41
Pages: 28138-48
Publication
First Author: Kelly D
Year: 1994
Journal: J Neurosci
Title: Autosomal recessive neuromuscular disorder in a transgenic line of mice.
Volume: 14
Issue: 1
Pages: 198-207
Publication
First Author: Levedakou EN
Year: 2005
Journal: Mol Cell Neurosci
Title: Disruption of the mouse Large gene in the enr and myd mutants results in nerve, muscle, and neuromuscular junction defects.
Volume: 28
Issue: 4
Pages: 757-69
Publication
First Author: Rath EM
Year: 1995
Journal: J Neurosci
Title: Impaired peripheral nerve regeneration in a mutant strain of mice (Enr) with a Schwann cell defect.
Volume: 15
Issue: 11
Pages: 7226-37
Publication
First Author: Lee Y
Year: 2005
Journal: Mol Cell Neurosci
Title: Ocular abnormalities in Large(myd) and Large(vls) mice, spontaneous models for muscle, eye, and brain diseases.
Volume: 30
Issue: 2
Pages: 160-72
Publication
First Author: Mathews KD
Year: 1995
Journal: J Neuropathol Exp Neurol
Title: Phenotypic and pathologic evaluation of the myd mouse. A candidate model for facioscapulohumeral dystrophy.
Volume: 54
Issue: 4
Pages: 601-6
Publication
First Author: Reed PW
Year: 2004
Journal: Muscle Nerve
Title: The sarcolemma in the Large(myd) mouse.
Volume: 30
Issue: 5
Pages: 585-95
Publication  
First Author: Lane PW
Year: 1969
Journal: Mouse News Lett
Title: Froggy (fg) renamed myd - myodystrophy
Volume: 40
Pages: 30
Publication  
First Author: Lane PW
Year: 1974
Journal: Mouse News Lett
Title: fg changed to myd.
Volume: 50
Pages: 43
Publication
First Author: Gumerson JD
Year: 2013
Journal: Hum Mol Genet
Title: Muscle-specific expression of LARGE restores neuromuscular transmission deficits in dystrophic LARGE(myd) mice.
Volume: 22
Issue: 4
Pages: 757-68
Publication
First Author: Rurak J
Year: 2007
Journal: J Neurochem
Title: Distribution of potassium ion and water permeable channels at perivascular glia in brain and retina of the Large(myd) mouse.
Volume: 103
Issue: 5
Pages: 1940-53
Publication
First Author: Kabaeva Z
Year: 2011
Journal: Hum Mol Genet
Title: Sarcolemma instability during mechanical activity in Largemyd cardiac myocytes with loss of dystroglycan extracellular matrix receptor function.
Volume: 20
Issue: 17
Pages: 3346-55
Publication
First Author: Mobley BA
Year: 1985
Journal: Exp Neurol
Title: Ca2+ capacity and uptake rate in skinned fibers of myodystrophic muscle.
Volume: 87
Issue: 1
Pages: 137-46
Publication
First Author: Holzfeind PJ
Year: 2002
Journal: Hum Mol Genet
Title: 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.
Volume: 11
Issue: 21
Pages: 2673-87
Publication
First Author: Herbst R
Year: 2009
Journal: Neuromuscul Disord
Title: Aberrant development of neuromuscular junctions in glycosylation-defective Large(myd) mice.
Volume: 19
Issue: 5
Pages: 366-78
Publication      
First Author: Curtain M
Year: 2010
Journal: MGI Direct Data Submission
Title: A mouse mutation in the Large gene with muscular dystrophy and retinoschisis
Publication
First Author: Hildyard JC
Year: 2016
Journal: PLoS One
Title: Transgenic Rescue of the LARGEmyd Mouse: A LARGE Therapeutic Window?
Volume: 11
Issue: 7
Pages: e0159853
Publication
First Author: Litwack ED
Year: 2006
Journal: Brain Res
Title: Absence of the basilar pons in mice lacking a functional Large glycosyltransferase gene suggests a defect in pontine neuron migration.
Volume: 1117
Issue: 1
Pages: 12-7
Publication
First Author: Nakagawa N
Year: 2013
Journal: Glycobiology
Title: HNK-1 sulfotransferase-dependent sulfation regulating laminin-binding glycans occurs in the post-phosphoryl moiety on α-dystroglycan.
Volume: 23
Issue: 9
Pages: 1066-74
Publication  
First Author: Grewal PK
Year: 2003
Journal: Hum Mol Genet
Title: Glycosylation defects: a new mechanism for muscular dystrophy?
Volume: 12 Spec No 2
Pages: R259-64
Publication
First Author: Burnett D
Year: 2002
Journal: J Clin Pathol
Title: Clinical pathology accreditation: standards for the medical laboratory.
Volume: 55
Issue: 10
Pages: 729-33
Publication  
First Author: Lane PW
Year: 1975
Journal: Mouse News Lett
Title: Myodystropy (myd).
Volume: 53
Pages: 34
Publication
First Author: Grewal PK
Year: 2002
Journal: Biochim Biophys Acta
Title: Mutation of Large, which encodes a putative glycosyltransferase, in an animal model of muscular dystrophy.
Volume: 1573
Issue: 3
Pages: 216-24
Publication
First Author: Peachey NS
Year: 2012
Journal: Doc Ophthalmol
Title: Response properties of slow PIII in the Large (vls) mutant.
Volume: 125
Issue: 3
Pages: 203-9
Publication
First Author: Lane PW
Year: 1976
Journal: J Hered
Title: Myodystrophy, a new myopathy on chromosome 8 of the mouse.
Volume: 67
Issue: 3
Pages: 135-8
Publication
First Author: Awano H
Year: 2015
Journal: Am J Pathol
Title: Restoration of Functional Glycosylation of α-Dystroglycan in FKRP Mutant Mice Is Associated with Muscle Regeneration.
Volume: 185
Issue: 7
Pages: 2025-37
Publication
First Author: Ribeiro AF Jr
Year: 2019
Journal: Sci Rep
Title: Muscle satellite cells and impaired late stage regeneration in different murine models for muscular dystrophies.
Volume: 9
Issue: 1
Pages: 11842
Publication
First Author: Nutting DF
Year: 1980
Journal: J Hered
Title: The calcium content of various tissues from myodystrophic and dystrophic mice.
Volume: 71
Issue: 1
Pages: 15-18
Publication
First Author: Martins PC
Year: 2013
Journal: Dis Model Mech
Title: Dmdmdx/Largemyd: a new mouse model of neuromuscular diseases useful for studying physiopathological mechanisms and testing therapies.
Volume: 6
Issue: 5
Pages: 1167-74
Publication
First Author: Martins-Bach AB
Year: 2015
Journal: PLoS One
Title: 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.
Volume: 10
Issue: 2
Pages: e0117835
Publication
First Author: Neymark MA
Year: 1980
Journal: Muscle Nerve
Title: Characterization of ATPase in sarcoplasmic reticulum from two strains of dystrophic mice.
Volume: 3
Issue: 4
Pages: 316-25
Publication  
First Author: Mathews KD
Year: 1995
Journal: Muscle Nerve Suppl
Title: Mouse myodystrophy (myd) mutation: refined mapping in an interval flanked by homology with distal human 4q.
Volume: 2
Pages: S98-102
Publication
First Author: Rayburn HB
Year: 1978
Journal: Brain Res
Title: Naked axons in myodystrophic mice.
Volume: 146
Issue: 2
Pages: 380-4
Publication
First Author: Vannoy CH
Year: 2014
Journal: Hum Gene Ther Methods
Title: Adeno-associated virus-mediated overexpression of LARGE rescues α-dystroglycan function in dystrophic mice with mutations in the fukutin-related protein.
Volume: 25
Issue: 3
Pages: 187-96
Publication
First Author: Yoshida-Moriguchi T
Year: 2010
Journal: Science
Title: O-mannosyl phosphorylation of alpha-dystroglycan is required for laminin binding.
Volume: 327
Issue: 5961
Pages: 88-92
Publication
First Author: Kanagawa M
Year: 2009
Journal: Hum Mol Genet
Title: Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy.
Volume: 18
Issue: 4
Pages: 621-31
Publication
First Author: Booler HS
Year: 2016
Journal: Brain Pathol
Title: Degree of Cajal-Retzius Cell Mislocalization Correlates with the Severity of Structural Brain Defects in Mouse Models of Dystroglycanopathy.
Volume: 26
Issue: 4
Pages: 465-78
Publication
First Author: Kanagawa M
Year: 2014
Journal: PLoS One
Title: Contribution of dysferlin deficiency to skeletal muscle pathology in asymptomatic and severe dystroglycanopathy models: generation of a new model for Fukuyama congenital muscular dystrophy.
Volume: 9
Issue: 9
Pages: e106721
Publication  
First Author: Ohtsuka Y
Year: 2015
Journal: Sci Rep
Title: Fukutin is prerequisite to ameliorate muscular dystrophic phenotype by myofiber-selective LARGE expression.
Volume: 5
Pages: 8316
Publication
First Author: Michele DE
Year: 2002
Journal: Nature
Title: Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies.
Volume: 418
Issue: 6896
Pages: 417-22
Publication
First Author: Zhang Z
Year: 2011
Journal: PLoS One
Title: LARGE expression augments the glycosylation of glycoproteins in addition to α-dystroglycan conferring laminin binding.
Volume: 6
Issue: 4
Pages: e19080
Publication
First Author: Brockington M
Year: 2010
Journal: PLoS One
Title: Transgenic overexpression of LARGE induces α-dystroglycan hyperglycosylation in skeletal and cardiac muscle.
Volume: 5
Issue: 12
Pages: e14434
Publication
First Author: Whitmore C
Year: 2014
Journal: Hum Mol Genet
Title: The transgenic expression of LARGE exacerbates the muscle phenotype of dystroglycanopathy mice.
Volume: 23
Issue: 7
Pages: 1842-55
Publication
First Author: Ou-Yang MH
Year: 2015
Journal: Neurobiol Aging
Title: N-terminal region of myelin basic protein reduces fibrillar amyloid-β deposition in Tg-5xFAD mice.
Volume: 36
Issue: 2
Pages: 801-11
Publication
First Author: Patnaik SK
Year: 2005
Journal: J Biol Chem
Title: Mouse large can modify complex N- and mucin O-glycans on alpha-dystroglycan to induce laminin binding.
Volume: 280
Issue: 21
Pages: 20851-9
Publication
First Author: Orian JM
Year: 1994
Journal: J Neurosci Res
Title: Insertional mutagenesis inducing hypomyelination in transgenic mice.
Volume: 39
Issue: 5
Pages: 604-12
Publication    
First Author: Willer T
Year: 2014
Journal: Elife
Title: The glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated α-dystroglycan functional glycosylation.
Volume: 3
Publication
First Author: Michele DE
Year: 2009
Journal: Circ Res
Title: Dystroglycan matrix receptor function in cardiac myocytes is important for limiting activity-induced myocardial damage.
Volume: 105
Issue: 10
Pages: 984-93
Publication
First Author: Mozhui K
Year: 2007
Journal: Behav Genet
Title: Genetic and structural analysis of the basolateral amygdala complex in BXD recombinant inbred mice.
Volume: 37
Issue: 1
Pages: 223-43
Publication
First Author: Seo BA
Year: 2018
Journal: Proc Natl Acad Sci U S A
Title: LARGE, an intellectual disability-associated protein, regulates AMPA-type glutamate receptor trafficking and memory.
Volume: 115
Issue: 27
Pages: 7111-7116
Publication
First Author: Han R
Year: 2009
Journal: Proc Natl Acad Sci U S A
Title: Basal lamina strengthens cell membrane integrity via the laminin G domain-binding motif of alpha-dystroglycan.
Volume: 106
Issue: 31
Pages: 12573-9
Publication
First Author: Morioka S
Year: 2020
Journal: PLoS Genet
Title: Congenital hearing impairment associated with peripheral cochlear nerve dysmyelination in glycosylation-deficient muscular dystrophy.
Volume: 16
Issue: 5
Pages: e1008826
Publication
First Author: Kanagawa M
Year: 2005
Journal: FEBS Lett
Title: Disruption of perlecan binding and matrix assembly by post-translational or genetic disruption of dystroglycan function.
Volume: 579
Issue: 21
Pages: 4792-6
Publication
First Author: Stalnaker SH
Year: 2011
Journal: J Biol Chem
Title: Glycomic analyses of mouse models of congenital muscular dystrophy.
Volume: 286
Issue: 24
Pages: 21180-90
Publication
First Author: Li J
Year: 2011
Journal: Neurosci Lett
Title: Breaches of the pial basement membrane are associated with defective dentate gyrus development in mouse models of congenital muscular dystrophies.
Volume: 505
Issue: 1
Pages: 19-24
Publication
First Author: Hu H
Year: 2011
Journal: Neurosci Lett
Title: Pikachurin interaction with dystroglycan is diminished by defective O-mannosyl glycosylation in congenital muscular dystrophy models and rescued by LARGE overexpression.
Volume: 489
Issue: 1
Pages: 10-5
Publication
First Author: Grewal PK
Year: 1997
Journal: Mamm Genome
Title: The mouse homolog of FRG1, a candidate gene for FSHD, maps proximal to the myodystrophy mutation on chromosome 8.
Volume: 8
Issue: 6
Pages: 394-8
Publication
First Author: Bartsch JW
Year: 1998
Journal: Genomics
Title: 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.
Volume: 49
Issue: 1
Pages: 129-32
Publication
First Author: Beedle AM
Year: 2007
Journal: J Biol Chem
Title: Fukutin-related protein associates with the sarcolemmal dystrophin-glycoprotein complex.
Volume: 282
Issue: 23
Pages: 16713-7
Publication
First Author: Marshall JL
Year: 2012
Journal: J Cell Biol
Title: Sarcospan-dependent Akt activation is required for utrophin expression and muscle regeneration.
Volume: 197
Issue: 7
Pages: 1009-27
Publication  
First Author: Rios JJ
Year: 2021
Journal: Dis Model Mech
Title: Saturation mutagenesis defines novel mouse models of severe spine deformity.
Volume: 14
Issue: 6
Publication  
First Author: Dwyer CA
Year: 2012
Journal: Neuroscience
Title: RPTPζ/phosphacan is abnormally glycosylated in a model of muscle-eye-brain disease lacking functional POMGnT1.
Volume: 220
Pages: 47-61
Publication
First Author: Pribiag H
Year: 2014
Journal: Proc Natl Acad Sci U S A
Title: Dystroglycan mediates homeostatic synaptic plasticity at GABAergic synapses.
Volume: 111
Issue: 18
Pages: 6810-5
Publication
First Author: Qu Q
Year: 2006
Journal: Eur J Neurosci
Title: Defects in tangential neuronal migration of pontine nuclei neurons in the Largemyd mouse are associated with stalled migration in the ventrolateral hindbrain.
Volume: 23
Issue: 11
Pages: 2877-86
Publication
First Author: Groh S
Year: 2009
Journal: J Biol Chem
Title: Sarcoglycan complex: implications for metabolic defects in muscular dystrophies.
Volume: 284
Issue: 29
Pages: 19178-82
Publication
First Author: Kuga A
Year: 2012
Journal: J Biol Chem
Title: Absence of post-phosphoryl modification in dystroglycanopathy mouse models and wild-type tissues expressing non-laminin binding form of α-dystroglycan.
Volume: 287
Issue: 12
Pages: 9560-7
Publication
First Author: Court FA
Year: 2009
Journal: J Neurosci
Title: A laminin-2, dystroglycan, utrophin axis is required for compartmentalization and elongation of myelin segments.
Volume: 29
Issue: 12
Pages: 3908-19
Publication
First Author: Saito F
Year: 2014
Journal: Hum Mol Genet
Title: Overexpression of LARGE suppresses muscle regeneration via down-regulation of insulin-like growth factor 1 and aggravates muscular dystrophy in mice.
Volume: 23
Issue: 17
Pages: 4543-58
Publication
First Author: Mills KA
Year: 1995
Journal: Mamm Genome
Title: Genetic mapping near the myd locus on mouse chromosome 8.
Volume: 6
Issue: 4
Pages: 278-80
Publication
First Author: Okazaki N
Year: 2003
Journal: DNA Res
Title: Prediction of the coding sequences of mouse homologues of KIAA gene: II. The complete nucleotide sequences of 400 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries.
Volume: 10
Issue: 1
Pages: 35-48
Publication
First Author: Sudo A
Year: 2018
Journal: Hum Mol Genet
Title: Temporal requirement of dystroglycan glycosylation during brain development and rescue of severe cortical dysplasia via gene delivery in the fetal stage.
Volume: 27
Issue: 7
Pages: 1174-1185
Publication  
First Author: Yagi H
Year: 2013
Journal: Sci Rep
Title: AGO61-dependent GlcNAc modification primes the formation of functional glycans on α-dystroglycan.
Volume: 3
Pages: 3288
Publication  
First Author: Lowe JB
Year: 2003
Journal: Annu Rev Biochem
Title: A genetic approach to Mammalian glycan function.
Volume: 72
Pages: 643-91
Publication
First Author: Kurrasch DM
Year: 2007
Journal: J Neurosci
Title: The neonatal ventromedial hypothalamus transcriptome reveals novel markers with spatially distinct patterning.
Volume: 27
Issue: 50
Pages: 13624-34
Publication      
First Author: Elliott R
Year: 2000
Journal: Personal Communication
Title: Chromosome Locations Based on RH mapping
Publication      
First Author: Shanghai Model Organisms Center
Year: 2017
Journal: MGI Direct Data Submission
Title: Information obtained from the Shanghai Model Organisms Center (SMOC), Shanghai, China
Publication  
First Author: Collin GB
Year: 2020
Journal: Cells
Title: Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss.
Volume: 9
Issue: 4
Publication        
First Author: International Committee on Standardized Genetic Nomenclature for Mice
Year: 1993
Title: Nomenclature rule change to delete hyphens and parentheses from mouse locus symbols
Publication
First Author: Blackshaw S
Year: 2004
Journal: PLoS Biol
Title: Genomic analysis of mouse retinal development.
Volume: 2
Issue: 9
Pages: E247
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Mouse Synonym Curation
Publication
First Author: Friedel RH
Year: 2007
Journal: Brief Funct Genomic Proteomic
Title: EUCOMM--the European conditional mouse mutagenesis program.
Volume: 6
Issue: 3
Pages: 180-5
Publication  
First Author: Bedogni F
Year: 2021
Journal: Front Mol Neurosci
Title: Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development.
Volume: 14
Pages: 686034
Publication
First Author: Thompson CL
Year: 2014
Journal: Neuron
Title: A high-resolution spatiotemporal atlas of gene expression of the developing mouse brain.
Volume: 83
Issue: 2
Pages: 309-323
Publication
First Author: Magdaleno S
Year: 2006
Journal: PLoS Biol
Title: BGEM: an in situ hybridization database of gene expression in the embryonic and adult mouse nervous system.
Volume: 4
Issue: 4
Pages: e86
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2003
Title: MGI Sequence Curation Reference
Publication
First Author: Carninci P
Year: 2005
Journal: Science
Title: The transcriptional landscape of the mammalian genome.
Volume: 309
Issue: 5740
Pages: 1559-63
Publication        
First Author: MGD Nomenclature Committee
Year: 1995
Title: Nomenclature Committee Use
Publication
First Author: Zambrowicz BP
Year: 2003
Journal: Proc Natl Acad Sci U S A
Title: Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention.
Volume: 100
Issue: 24
Pages: 14109-14
Publication      
First Author: Mouse Genome Informatics (MGI) and National Center for Biotechnology Information (NCBI)
Year: 2008
Journal: Database Download
Title: Mouse Gene Trap Data Load from dbGSS
Publication        
First Author: GemPharmatech
Year: 2020
Title: GemPharmatech Website.
Publication        
First Author: AgBase, BHF-UCL, Parkinson's UK-UCL, dictyBase, HGNC, Roslin Institute, FlyBase and UniProtKB curators
Year: 2011
Title: Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity