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Search results 101 to 200 out of 205 for Gba1

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Category: Publication
Type Details Score
Publication
First Author: Sun Y
Year: 2005
Journal: J Lipid Res
Title: Gaucher disease mouse models: point mutations at the acid beta-glucosidase locus combined with low-level prosaposin expression lead to disease variants.
Volume: 46
Issue: 10
Pages: 2102-13
Publication
First Author: Yun SP
Year: 2018
Journal: Mol Neurodegener
Title: α-Synuclein accumulation and GBA deficiency due to L444P GBA mutation contributes to MPTP-induced parkinsonism.
Volume: 13
Issue: 1
Pages: 1
Publication
First Author: Shimizu T
Year: 2023
Journal: Immunity
Title: Direct activation of microglia by β-glucosylceramide causes phagocytosis of neurons that exacerbates Gaucher disease.
Volume: 56
Issue: 2
Pages: 307-319.e8
Publication
First Author: Sun Y
Year: 2010
Journal: Hum Mol Genet
Title: Specific saposin C deficiency: CNS impairment and acid beta-glucosidase effects in the mouse.
Volume: 19
Issue: 4
Pages: 634-47
Publication
First Author: Fishbein I
Year: 2014
Journal: Brain
Title: Augmentation of phenotype in a transgenic Parkinson mouse heterozygous for a Gaucher mutation.
Volume: 137
Issue: Pt 12
Pages: 3235-47
Publication
First Author: Migdalska-Richards A
Year: 2016
Journal: Ann Neurol
Title: Ambroxol effects in glucocerebrosidase and α-synuclein transgenic mice.
Volume: 80
Issue: 5
Pages: 766-775
Publication
First Author: Sun Y
Year: 2010
Journal: Hum Mol Genet
Title: Neuronopathic Gaucher disease in the mouse: viable combined selective saposin C deficiency and mutant glucocerebrosidase (V394L) mice with glucosylsphingosine and glucosylceramide accumulation and progressive neurological deficits.
Volume: 19
Issue: 6
Pages: 1088-97
Publication
First Author: Dasgupta N
Year: 2015
Journal: Hum Mol Genet
Title: Neuronopathic Gaucher disease: dysregulated mRNAs and miRNAs in brain pathogenesis and effects of pharmacologic chaperone treatment in a mouse model.
Volume: 24
Issue: 24
Pages: 7031-48
Publication
First Author: Papadopoulos VE
Year: 2018
Journal: Hum Mol Genet
Title: Modulation of β-glucocerebrosidase increases α-synuclein secretion and exosome release in mouse models of Parkinson's disease.
Volume: 27
Issue: 10
Pages: 1696-1710
Publication
First Author: Wu JJ
Year: 2013
Journal: Cell Rep
Title: Increased mammalian lifespan and a segmental and tissue-specific slowing of aging after genetic reduction of mTOR expression.
Volume: 4
Issue: 5
Pages: 913-20
Publication
First Author: Ginns EI
Year: 2014
Journal: Mol Genet Metab
Title: Neuroinflammation and α-synuclein accumulation in response to glucocerebrosidase deficiency are accompanied by synaptic dysfunction.
Volume: 111
Issue: 2
Pages: 152-62
Publication
First Author: Sun Y
Year: 2003
Journal: J Biol Chem
Title: Saposin C is required for normal resistance of acid beta-glucosidase to proteolytic degradation.
Volume: 278
Issue: 34
Pages: 31918-23
Publication
First Author: Minta JO
Year: 1996
Journal: Mol Immunol
Title: cDNA cloning, sequencing and chromosomal assignment of the gene for mouse complement factor I (C3b/C4b inactivator): identification of a species specific divergent segment in factor I.
Volume: 33
Issue: 1
Pages: 101-12
Publication
First Author: Osman N
Year: 1992
Journal: J Immunol
Title: Structure and mapping of the gene encoding mouse high affinity Fc gamma RI and chromosomal location of the human Fc gamma RI gene.
Volume: 148
Issue: 5
Pages: 1570-5
Publication
First Author: Bornstein P
Year: 1995
Journal: Proc Natl Acad Sci U S A
Title: Metaxin, a gene contiguous to both thrombospondin 3 and glucocerebrosidase, is required for embryonic development in the mouse: implications for Gaucher disease.
Volume: 92
Issue: 10
Pages: 4547-51
Publication
First Author: Göbel V
Year: 1992
Journal: Cell Growth Differ
Title: NSCL-2: a basic domain helix-loop-helix gene expressed in early neurogenesis.
Volume: 3
Issue: 3
Pages: 143-8
Publication
First Author: Vos HL
Year: 1995
Journal: Mamm Genome
Title: A tightly organized, conserved gene cluster on mouse chromosome 3 (E3-F1).
Volume: 6
Issue: 11
Pages: 820-2
Publication
First Author: Kingsmore SF
Year: 1994
Journal: Nat Genet
Title: Glycine receptor beta-subunit gene mutation in spastic mouse associated with LINE-1 element insertion.
Volume: 7
Issue: 2
Pages: 136-41
Publication
First Author: Reczek D
Year: 2007
Journal: Cell
Title: LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase.
Volume: 131
Issue: 4
Pages: 770-83
Publication
First Author: Cho SM
Year: 2019
Journal: J Neurochem
Title: Absence of infiltrating peripheral myeloid cells in the brains of mouse models of lysosomal storage disorders.
Volume: 148
Issue: 5
Pages: 625-638
Publication
First Author: Vitner EB
Year: 2010
Journal: Hum Mol Genet
Title: Altered expression and distribution of cathepsins in neuronopathic forms of Gaucher disease and in other sphingolipidoses.
Volume: 19
Issue: 18
Pages: 3583-90
Publication
First Author: Pentchev PG
Year: 1980
Journal: Biochim Biophys Acta
Title: A lysosomal storage disorder in mice characterized by a dual deficiency of sphingomyelinase and glucocerebrosidase.
Volume: 619
Issue: 3
Pages: 669-79
Publication
First Author: Schmuth M
Year: 2002
Journal: J Invest Dermatol
Title: Role of peroxisome proliferator-activated receptor alpha in epidermal development in utero.
Volume: 119
Issue: 6
Pages: 1298-303
Publication
First Author: Rothaug M
Year: 2014
Journal: Proc Natl Acad Sci U S A
Title: LIMP-2 expression is critical for β-glucocerebrosidase activity and α-synuclein clearance.
Volume: 111
Issue: 43
Pages: 15573-8
Publication
First Author: Liou B
Year: 2016
Journal: Hum Mol Genet
Title: Modulating ryanodine receptors with dantrolene attenuates neuronopathic phenotype in Gaucher disease mice.
Volume: 25
Issue: 23
Pages: 5126-5141
Publication
First Author: Bradbury A
Year: 1991
Journal: Somat Cell Mol Genet
Title: Chromosomal localization of Cd1d genes in the mouse.
Volume: 17
Issue: 1
Pages: 93-6
Publication
First Author: Knapp LT
Year: 1993
Journal: Mamm Genome
Title: Corticotropin-releasing hormone (Crh) maps to mouse chromosome 3.
Volume: 4
Issue: 10
Pages: 615-7
Publication
First Author: Pandey KN
Year: 1994
Journal: Mamm Genome
Title: Genetic mapping of the gene encoding guanylate cyclase-A/atrial natriuretic factor receptor (Npra) to mouse chromosome 3.
Volume: 5
Issue: 8
Pages: 520-2
Publication
First Author: Kumar AG
Year: 1994
Journal: J Immunol
Title: Murine VCAM-1. Molecular cloning, mapping, and analysis of a truncated form.
Volume: 153
Issue: 9
Pages: 4088-98
Publication
First Author: Haller JF
Year: 2014
Journal: J Lipid Res
Title: Endogenous β-glucocerebrosidase activity in Abca12⁻/⁻epidermis elevates ceramide levels after topical lipid application but does not restore barrier function.
Volume: 55
Issue: 3
Pages: 493-503
Publication
First Author: Rodriguez-Garcia MI
Year: 1996
Journal: Genomics
Title: Mouse annexin V chromosomal localization, cDNA sequence conservation, and molecular evolution.
Volume: 31
Issue: 2
Pages: 151-7
Publication
First Author: Maier MM
Year: 2000
Journal: Biochem Biophys Res Commun
Title: Comparative analysis of the human and mouse Hey1 promoter: Hey genes are new Notch target genes.
Volume: 275
Issue: 2
Pages: 652-60
Publication
First Author: Bhalerao J
Year: 1995
Journal: J Biol Chem
Title: Molecular cloning, characterization, and genetic mapping of the cDNA coding for a novel secretory protein of mouse. Demonstration of alternative splicing in skin and cartilage.
Volume: 270
Issue: 27
Pages: 16385-94
Publication
First Author: Moore SK
Year: 1991
Journal: Genomics
Title: Mapping of the mouse 86-kDa heat-shock protein expressed gene (Hsp86-1) on chromosome 12 and related genes on chromosomes 3, 4, 9, and 11.
Volume: 10
Issue: 4
Pages: 1019-29
Publication
First Author: Vitner EB
Year: 2014
Journal: Nat Med
Title: RIPK3 as a potential therapeutic target for Gaucher's disease.
Volume: 20
Issue: 2
Pages: 204-8
Publication
First Author: Kim EY
Year: 2006
Journal: Exp Mol Med
Title: Downregulation of neurotrophic factors in the brain of a mouse model of Gaucher disease; implications for neuronal loss in Gaucher disease.
Volume: 38
Issue: 4
Pages: 348-56
Publication
First Author: Baptista MA
Year: 2013
Journal: Dis Model Mech
Title: A strategy for the generation, characterization and distribution of animal models by The Michael J. Fox Foundation for Parkinson's Research.
Volume: 6
Issue: 6
Pages: 1316-24
Publication
First Author: Bain PA
Year: 1993
Journal: Genomics
Title: The genes encoding gonadal and nongonadal forms of 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4 isomerase are closely linked on mouse chromosome 3.
Volume: 16
Issue: 1
Pages: 219-23
Publication
First Author: Desbois C
Year: 1994
Journal: Mamm Genome
Title: Localization of the osteocalcin gene cluster on mouse chromosome 3.
Volume: 5
Issue: 5
Pages: 321-2
Publication
First Author: Boonen M
Year: 2009
Journal: Mol Biol Cell
Title: Mice lacking mannose 6-phosphate uncovering enzyme activity have a milder phenotype than mice deficient for N-acetylglucosamine-1-phosphotransferase activity.
Volume: 20
Issue: 20
Pages: 4381-9
Publication
First Author: Valdimarsson G
Year: 1993
Journal: Mol Reprod Dev
Title: Coexpression of gap junction proteins in the cumulus-oocyte complex.
Volume: 36
Issue: 1
Pages: 7-15
Publication
First Author: Caetano AR
Year: 1999
Journal: Genome Res
Title: A comparative gene map of the horse (Equus caballus).
Volume: 9
Issue: 12
Pages: 1239-49
Publication
First Author: Oakey RJ
Year: 1992
Journal: Immunogenetics
Title: Chromosomal mapping of the high affinity Fc gamma receptor gene.
Volume: 35
Issue: 4
Pages: 279-82
Publication
First Author: Dower NA
Year: 1992
Journal: Mamm Genome
Title: Organization and chromosomal locations of Rap1a/Krev sequences in the mouse.
Volume: 3
Issue: 3
Pages: 162-7
Publication
First Author: Shao H
Year: 1995
Journal: J Biol Chem
Title: Characterization of B61, the ligand for the Eck receptor protein-tyrosine kinase.
Volume: 270
Issue: 10
Pages: 5636-41
Publication
First Author: Karim SA
Year: 2004
Journal: Genomics
Title: A physical map of the genomic region on mouse chromosome 3 containing the hindshaker (hsh) mutation.
Volume: 83
Issue: 2
Pages: 225-30
Publication
First Author: Klein AD
Year: 2016
Journal: Cell Rep
Title: Identification of Modifier Genes in a Mouse Model of Gaucher Disease.
Volume: 16
Issue: 10
Pages: 2546-2553
Publication
First Author: Kozak CA
Year: 1995
Journal: Genomics
Title: Genomic cloning of mouse MIF (macrophage inhibitory factor) and genetic mapping of the human and mouse expressed gene and nine mouse pseudogenes.
Volume: 27
Issue: 3
Pages: 405-11
Publication
First Author: Moseley WS
Year: 1989
Journal: Genomics
Title: Definition of mouse chromosome 1 and 3 gene linkage groups that are conserved on human chromosome 1: evidence that a conserved linkage group spans the centromere of human chromosome 1.
Volume: 5
Issue: 4
Pages: 899-905
Publication
First Author: Filie JD
Year: 1998
Journal: Mamm Genome
Title: Genetic mapping of the mouse ferritin light chain gene and 11 pseudogenes on 11 mouse chromosomes.
Volume: 9
Issue: 2
Pages: 111-3
Publication
First Author: Ngamukote S
Year: 2007
Journal: J Neurochem
Title: Developmental changes of glycosphingolipids and expression of glycogenes in mouse brains.
Volume: 103
Issue: 6
Pages: 2327-41
Publication
First Author: Hearne CM
Year: 1991
Journal: Mamm Genome
Title: Additional microsatellite markers for mouse genome mapping.
Volume: 1
Issue: 4
Pages: 273-82
Publication
First Author: Kozak CA
Year: 1999
Journal: Mamm Genome
Title: Identification and genetic mapping of differentially expressed genes in mice differing at the If1 interferon regulatory locus.
Volume: 10
Issue: 9
Pages: 853-7
Publication      
First Author: Mutant Mouse Regional Resource Centers
Year: 2004
Journal: Unpublished
Title: Information obtained from the Mutant Mouse Regional Resource Centers (MMRRC)
Publication      
First Author: The Jackson Laboratory
Year: 2005
Journal: Unpublished
Title: Information obtained from The Jackson Laboratory, Bar Harbor, ME
Publication        
First Author: UniProt-GOA
Year: 2012
Title: Gene Ontology annotation based on UniPathway vocabulary mapping
Publication        
First Author: Mouse Genome Database and National Center for Biotechnology Information Editorial Staff Collaboration
Year: 2001
Title: LocusLink Collaboration
Publication        
First Author: GO Central curators, GOA curators, Rhea curators
Year: 2020
Title: Automatic Gene Ontology annotation based on Rhea mapping
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Mouse Synonym Curation
Publication      
First Author: MGI and IMPC
Year: 2018
Journal: Database Release
Title: MGI Load of Endonuclease-Mediated Alleles (CRISPR) from the International Mouse Phenotyping Consortium (IMPC)
Publication
First Author: Visel A
Year: 2004
Journal: Nucleic Acids Res
Title: GenePaint.org: an atlas of gene expression patterns in the mouse embryo.
Volume: 32
Issue: Database issue
Pages: D552-6
Publication      
First Author: Wellcome Trust Sanger Institute
Year: 2010
Journal: MGI Direct Data Submission
Title: Alleles produced for the EUCOMM and EUCOMMTools projects by the Wellcome Trust Sanger Institute
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: Mouse Genome Informatics and the International Mouse Phenotyping Consortium (IMPC)
Year: 2014
Journal: Database Release
Title: Obtaining and Loading Phenotype Annotations from the International Mouse Phenotyping Consortium (IMPC) Database
Publication      
First Author: Helmholtz Zentrum Muenchen GmbH
Year: 2010
Journal: MGI Direct Data Submission
Title: Alleles produced for the EUCOMM and EUCOMMTools projects by the Helmholtz Zentrum Muenchen GmbH (Hmgu)
Publication        
First Author: The Gene Ontology Consortium
Year: 2014
Title: Automated transfer of experimentally-verified manual GO annotation data to mouse-rat orthologs
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: Carninci P
Year: 2005
Journal: Science
Title: The transcriptional landscape of the mammalian genome.
Volume: 309
Issue: 5740
Pages: 1559-63
Publication
First Author: Adams DJ
Year: 2024
Journal: Nature
Title: Genetic determinants of micronucleus formation in vivo.
Volume: 627
Issue: 8002
Pages: 130-136
Publication        
First Author: MGD Nomenclature Committee
Year: 1995
Title: Nomenclature Committee Use
Publication        
First Author: GemPharmatech
Year: 2020
Title: GemPharmatech Website.
Publication
First Author: Skarnes WC
Year: 2011
Journal: Nature
Title: A conditional knockout resource for the genome-wide study of mouse gene function.
Volume: 474
Issue: 7351
Pages: 337-42
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: Cyagen Biosciences Inc.
Year: 2022
Title: Cyagen Biosciences 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
Publication        
First Author: GOA curators
Year: 2016
Title: Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
Publication
First Author: Okazaki Y
Year: 2002
Journal: Nature
Title: Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs.
Volume: 420
Issue: 6915
Pages: 563-73
Publication        
First Author: The Gene Ontology Consortium
Year: 2010
Title: Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Mouse Genome Informatics Computational Sequence to Gene Associations
Publication      
First Author: Mouse Genome Informatics Scientific Curators
Year: 2010
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome U74 Array Platform (A, B, C v2).
Publication      
First Author: MGI Genome Annotation Group and UniGene Staff
Year: 2015
Journal: Database Download
Title: MGI-UniGene Interconnection Effort
Publication        
First Author: Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas
Year: 2010
Title: Annotation inferences using phylogenetic trees
Publication      
First Author: Mouse Genome Database and National Center for Biotechnology Information
Year: 2000
Journal: Database Release
Title: Entrez Gene Load
Publication      
First Author: Allen Institute for Brain Science
Year: 2004
Journal: Allen Institute
Title: Allen Brain Atlas: mouse riboprobes
Publication      
First Author: Mouse Genome Informatics Scientific Curators
Year: 2009
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Gene 1.0 ST Array Platform
Publication      
First Author: Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI)
Year: 2010
Journal: Database Download
Title: Consensus CDS project
Publication      
First Author: Mouse Genome Informatics Group
Year: 2003
Journal: Database Procedure
Title: Automatic Encodes (AutoE) Reference
Publication      
First Author: Bairoch A
Year: 1999
Journal: Database Release
Title: SWISS-PROT Annotated protein sequence database
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations
Publication      
First Author: Mouse Genome Informatics
Year: 2010
Journal: Database Release
Title: Protein Ontology Association Load.
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and loading genome assembly coordinates from NCBI annotations
Publication      
First Author: Mouse Genome Informatics Scientific Curators
Year: 2009
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform
Publication
First Author: Kim MJ
Year: 2018
Journal: Hum Mol Genet
Title: Acid ceramidase inhibition ameliorates α-synuclein accumulation upon loss of GBA1 function.
Volume: 27
Issue: 11
Pages: 1972-1988
Publication
First Author: Dasgupta N
Year: 2013
Journal: PLoS One
Title: Gaucher disease: transcriptome analyses using microarray or mRNA sequencing in a Gba1 mutant mouse model treated with velaglucerase alfa or imiglucerase.
Volume: 8
Issue: 10
Pages: e74912
Publication
First Author: Körschen HG
Year: 2013
Journal: J Biol Chem
Title: The non-lysosomal β-glucosidase GBA2 is a non-integral membrane-associated protein at the endoplasmic reticulum (ER) and Golgi.
Volume: 288
Issue: 5
Pages: 3381-93
Publication
First Author: Akiyama H
Year: 2020
Journal: J Biol Chem
Title: Glucocerebrosidases catalyze a transgalactosylation reaction that yields a newly-identified brain sterol metabolite, galactosylated cholesterol.
Volume: 295
Issue: 16
Pages: 5257-5277
Publication  
First Author: Kim MJ
Year: 2024
Journal: JCI Insight
Title: Inhibition of cysteine protease cathepsin Lincreases the level and activity of lysosomal glucocerebrosidase.
Volume: 9
Issue: 3
Publication
First Author: Nagata M
Year: 2017
Journal: Proc Natl Acad Sci U S A
Title: Intracellular metabolite β-glucosylceramide is an endogenous Mincle ligand possessing immunostimulatory activity.
Volume: 114
Issue: 16
Pages: E3285-E3294
Publication
First Author: Kim MJ
Year: 2022
Journal: Hum Mol Genet
Title: Lysosomal ceramides regulate cathepsin B-mediated processing of saposin C and glucocerebrosidase activity.
Volume: 31
Issue: 14
Pages: 2424-2437
Publication
First Author: Galea GL
Year: 2014
Journal: J Biol Chem
Title: Protein kinase Cα (PKCα) regulates bone architecture and osteoblast activity.
Volume: 289
Issue: 37
Pages: 25509-22