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Search results 101 to 200 out of 224 for Gaa

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Category: Publication
Type Details Score
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: 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: 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: 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
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: Diez-Roux G
Year: 2011
Journal: PLoS Biol
Title: A high-resolution anatomical atlas of the transcriptome in the mouse embryo.
Volume: 9
Issue: 1
Pages: e1000582
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: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Mouse Genome Informatics Computational Sequence to Gene Associations
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: 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 (MGI) and The National Center for Biotechnology Information (NCBI)
Year: 2010
Journal: Database Download
Title: Consensus CDS project
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 Gene 1.0 ST Array Platform
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: Allen Institute for Brain Science
Year: 2004
Journal: Allen Institute
Title: Allen Brain Atlas: mouse riboprobes
Publication  
First Author: Kalef-Ezra E
Year: 2023
Journal: Front Neurosci
Title: A new FRDA mouse model [Fxn (null):YG8s(GAA) > 800] with more than 800 GAA repeats.
Volume: 17
Pages: 930422
Publication  
First Author: Al-Mahdawi S
Year: 2018
Journal: Front Cell Neurosci
Title: Large Interruptions of GAA Repeat Expansion Mutations in Friedreich Ataxia Are Very Rare.
Volume: 12
Pages: 443
Publication
First Author: Ezzatizadeh V
Year: 2012
Journal: Neurobiol Dis
Title: The mismatch repair system protects against intergenerational GAA repeat instability in a Friedreich ataxia mouse model.
Volume: 46
Issue: 1
Pages: 165-71
Publication
First Author: Al-Mahdawi S
Year: 2006
Journal: Genomics
Title: GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology.
Volume: 88
Issue: 5
Pages: 580-90
Publication
First Author: Al-Mahdawi S
Year: 2008
Journal: Hum Mol Genet
Title: The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues.
Volume: 17
Issue: 5
Pages: 735-46
Publication
First Author: von Deimling OH
Year: 1991
Journal: Genet Res
Title: Biochemical and genetic characterization of esterase-27 (ES-27), the major plasma cholinesterase of the house mouse (Mus musculus).
Volume: 57
Issue: 1
Pages: 61-70
Publication
First Author: von Deimling O
Year: 1992
Journal: Biochem Genet
Title: Esterase-29 (ES-29): biochemical characterization and control by two independent gene loci of a testosterone-dependent mouse serum esterase.
Volume: 30
Issue: 7-8
Pages: 421-36
Publication
First Author: von Deimling OH
Year: 1991
Journal: Biochem Genet
Title: Genetic and biochemical characterization of a new chymotrypsin isozyme of the house mouse, CTRA-1.
Volume: 29
Issue: 11-12
Pages: 545-57
Publication
First Author: von Deimling OH
Year: 1988
Journal: Biochem Genet
Title: Esterase-18 (ES-18) of the house mouse (Mus musculus): biochemical characterization and genetics of an allozyme system linked to chromosome 19.
Volume: 26
Issue: 9-10
Pages: 617-29
Publication
First Author: von Deimling OH
Year: 1991
Journal: Electrophoresis
Title: Demonstration of murine pancreas elastase and its interstrain variation by isoelectric focusing.
Volume: 12
Issue: 6
Pages: 446-7
Publication
First Author: Campuzano V
Year: 1996
Journal: Science
Title: Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.
Volume: 271
Issue: 5254
Pages: 1423-7
Publication
First Author: Ronai A
Year: 1993
Journal: Biochem Genet
Title: Esterase-30 (ES-30) of the house mouse: biochemical characterization and genetics of a new carboxylesterase isozyme linked to cluster-2 loci on chromosome 8.
Volume: 31
Issue: 7-8
Pages: 279-94
Publication
First Author: Scherer G
Year: 1989
Journal: Genomics
Title: Gene mapping on mouse chromosome 8 by interspecific crosses: new data on a linkage group conserved on human chromosome 16q.
Volume: 5
Issue: 2
Pages: 275-82
Publication
First Author: Hameister H
Year: 1992
Journal: Genomics
Title: Gene order and genetic distance of 13 loci spanning murine chromosome 15.
Volume: 14
Issue: 2
Pages: 417-22
Publication
First Author: Becker-Follmann J
Year: 1997
Journal: Mamm Genome
Title: High-resolution mapping of a linkage group on mouse chromosome 8 conserved on human chromosome 16Q.
Volume: 8
Issue: 3
Pages: 172-7
Publication  
First Author: von Deimlimg O
Year: 1991
Journal: Mouse Genome
Title: Esterase-29.
Volume: 89
Pages: 549
Publication
First Author: Jasoliya M
Year: 2019
Journal: PLoS One
Title: Dimethyl fumarate dosing in humans increases frataxin expression: A potential therapy for Friedreich's Ataxia.
Volume: 14
Issue: 6
Pages: e0217776
Publication
First Author: Tomassini B
Year: 2012
Journal: Hum Mol Genet
Title: Interferon gamma upregulates frataxin and corrects the functional deficits in a Friedreich ataxia model.
Volume: 21
Issue: 13
Pages: 2855-61
Publication
First Author: Gong C
Year: 2021
Journal: Mol Cell
Title: Sequential inverse dysregulation of the RNA helicases DDX3X and DDX3Y facilitates MYC-driven lymphomagenesis.
Volume: 81
Issue: 19
Pages: 4059-4075.e11
Publication
First Author: Rodden LN
Year: 2022
Journal: Sci Rep
Title: DNA methylation in Friedreich ataxia silences expression of frataxin isoform E.
Volume: 12
Issue: 1
Pages: 5031
Publication  
First Author: Villa C
Year: 2021
Journal: Sci Transl Med
Title: Treatment with ROS detoxifying gold quantum clusters alleviates the functional decline in a mouse model of Friedreich ataxia.
Volume: 13
Issue: 607
Publication
First Author: Sandi C
Year: 2011
Journal: Neurobiol Dis
Title: Prolonged treatment with pimelic o-aminobenzamide HDAC inhibitors ameliorates the disease phenotype of a Friedreich ataxia mouse model.
Volume: 42
Issue: 3
Pages: 496-505
Publication  
First Author: Gérard C
Year: 2023
Journal: Behav Brain Res
Title: A promising mouse model for Friedreich Ataxia progressing like human patients.
Volume: 436
Pages: 114107
Publication
First Author: Chutake YK
Year: 2015
Journal: PLoS One
Title: FXN Promoter Silencing in the Humanized Mouse Model of Friedreich Ataxia.
Volume: 10
Issue: 9
Pages: e0138437
Publication
First Author: Liu Y
Year: 2021
Journal: Hum Mol Genet
Title: SS-31 efficacy in a mouse model of Friedreich ataxia by upregulation of frataxin expression.
Volume: 31
Issue: 2
Pages: 176-188
Publication  
First Author: Takeiri A
Year: 2014
Journal: DNA Repair (Amst)
Title: In vivo evidence that DNA polymerase kappa is responsible for error-free bypass across DNA cross-links induced by mitomycin C.
Volume: 24
Pages: 113-121
Publication
First Author: Wallace MJ
Year: 2023
Journal: J Biol Chem
Title: Impact of stress on cardiac phenotypes in mice harboring an ankyrin-B disease variant.
Volume: 299
Issue: 6
Pages: 104818
Publication
First Author: Anjomani Virmouni S
Year: 2014
Journal: PLoS One
Title: Cellular, molecular and functional characterisation of YAC transgenic mouse models of Friedreich ataxia.
Volume: 9
Issue: 9
Pages: e107416
Publication
First Author: Anjomani Virmouni S
Year: 2015
Journal: Dis Model Mech
Title: A novel GAA-repeat-expansion-based mouse model of Friedreich's ataxia.
Volume: 8
Issue: 3
Pages: 225-35
Publication
First Author: Stephenson JR
Year: 2017
Journal: J Neurosci
Title: A Novel Human CAMK2A Mutation Disrupts Dendritic Morphology and Synaptic Transmission, and Causes ASD-Related Behaviors.
Volume: 37
Issue: 8
Pages: 2216-2233
Publication
First Author: Jones J
Year: 2015
Journal: Mol Ther
Title: Mesenchymal stem cells improve motor functions and decrease neurodegeneration in ataxic mice.
Volume: 23
Issue: 1
Pages: 130-8
Publication
First Author: McCarthy DM
Year: 2012
Journal: Dev Neurosci
Title: Neurogenesis and neuronal migration in the forebrain of the TorsinA knockout mouse embryo.
Volume: 34
Issue: 4
Pages: 366-78
Publication
First Author: Cao S
Year: 2010
Journal: Dis Model Mech
Title: Chemical enhancement of torsinA function in cell and animal models of torsion dystonia.
Volume: 3
Issue: 5-6
Pages: 386-96
Publication
First Author: Dang MT
Year: 2012
Journal: Behav Brain Res
Title: An anticholinergic reverses motor control and corticostriatal LTD deficits in Dyt1 ΔGAG knock-in mice.
Volume: 226
Issue: 2
Pages: 465-72
Publication  
First Author: Yokoi F
Year: 2015
Journal: Behav Brain Res
Title: Decreased dopamine receptor 1 activity and impaired motor-skill transfer in Dyt1 ΔGAG heterozygous knock-in mice.
Volume: 279
Pages: 202-10
Publication
First Author: Yokoi F
Year: 2009
Journal: Neurosci Res
Title: Increased c-fos expression in the central nucleus of the amygdala and enhancement of cued fear memory in Dyt1 DeltaGAG knock-in mice.
Volume: 65
Issue: 3
Pages: 228-35
Publication
First Author: György B
Year: 2018
Journal: Sci Rep
Title: Mutant torsinA in the heterozygous DYT1 state compromises HSV propagation in infected neurons and fibroblasts.
Volume: 8
Issue: 1
Pages: 2324
Publication  
First Author: DeSimone JC
Year: 2016
Journal: Neurobiol Dis
Title: In vivo imaging reveals impaired connectivity across cortical and subcortical networks in a mouse model of DYT1 dystonia.
Volume: 95
Pages: 35-45
Publication
First Author: Yokoi F
Year: 2013
Journal: PLoS One
Title: Pre-synaptic release deficits in a DYT1 dystonia mouse model.
Volume: 8
Issue: 8
Pages: e72491
Publication
First Author: Miranda CJ
Year: 2002
Journal: FEBS Lett
Title: Frataxin knockin mouse.
Volume: 512
Issue: 1-3
Pages: 291-7
Publication
First Author: Pauls E
Year: 2013
Journal: J Immunol
Title: Two phases of inflammatory mediator production defined by the study of IRAK2 and IRAK1 knock-in mice.
Volume: 191
Issue: 5
Pages: 2717-30
Publication
First Author: Charton K
Year: 2010
Journal: Hum Mol Genet
Title: Removal of the calpain 3 protease reverses the myopathology in a mouse model for titinopathies.
Volume: 19
Issue: 23
Pages: 4608-24
Publication
First Author: Charton K
Year: 2015
Journal: Hum Mol Genet
Title: CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy.
Volume: 24
Issue: 13
Pages: 3718-31
Publication
First Author: Zhang L
Year: 2015
Journal: PLoS One
Title: Dopamine receptor and Gα(olf) expression in DYT1 dystonia mouse models during postnatal development.
Volume: 10
Issue: 4
Pages: e0123104
Publication
First Author: Layer G
Year: 2006
Journal: J Biol Chem
Title: Iron-sulfur cluster biosynthesis: characterization of Escherichia coli CYaY as an iron donor for the assembly of [2Fe-2S] clusters in the scaffold IscU.
Volume: 281
Issue: 24
Pages: 16256-63
Publication
First Author: Vivas E
Year: 2006
Journal: J Bacteriol
Title: Salmonella enterica strains lacking the frataxin homolog CyaY show defects in Fe-S cluster metabolism in vivo.
Volume: 188
Issue: 3
Pages: 1175-9
Publication
First Author: Koutnikova H
Year: 1997
Journal: Nat Genet
Title: Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin.
Volume: 16
Issue: 4
Pages: 345-51
Publication
First Author: Dürr A
Year: 1996
Journal: N Engl J Med
Title: Clinical and genetic abnormalities in patients with Friedreich's ataxia.
Volume: 335
Issue: 16
Pages: 1169-75
Publication
First Author: Gibson TJ
Year: 1996
Journal: Trends Neurosci
Title: Friedreich's ataxia protein: phylogenetic evidence for mitochondrial dysfunction.
Volume: 19
Issue: 11
Pages: 465-8
Publication
First Author: Knebelmann B
Year: 1991
Journal: Proc Natl Acad Sci U S A
Title: Anti-Müllerian hormone Bruxelles: a nonsense mutation associated with the persistent Müllerian duct syndrome.
Volume: 88
Issue: 9
Pages: 3767-71
Publication
First Author: Yokoi F
Year: 2011
Journal: PLoS One
Title: Motor deficits and decreased striatal dopamine receptor 2 binding activity in the striatum-specific Dyt1 conditional knockout mice.
Volume: 6
Issue: 9
Pages: e24539
Publication
First Author: Bourn RL
Year: 2012
Journal: PLoS One
Title: Pms2 suppresses large expansions of the (GAA·TTC)n sequence in neuronal tissues.
Volume: 7
Issue: 10
Pages: e47085
Publication
First Author: Wang H
Year: 2010
Journal: Proc Natl Acad Sci U S A
Title: Allele-specific tumor spectrum in pten knockin mice.
Volume: 107
Issue: 11
Pages: 5142-7
Publication
First Author: Yokoi F
Year: 2010
Journal: J Biochem
Title: Earlier onset of motor deficits in mice with double mutations in Dyt1 and Sgce.
Volume: 148
Issue: 4
Pages: 459-66
Publication
First Author: Pook MA
Year: 2001
Journal: Neurogenetics
Title: Rescue of the Friedreich's ataxia knockout mouse by human YAC transgenesis.
Volume: 3
Issue: 4
Pages: 185-93
Publication
First Author: Santoro A
Year: 2018
Journal: Hum Mol Genet
Title: Effect of diazoxide on Friedreich ataxia models.
Volume: 27
Issue: 6
Pages: 992-1001
Publication
First Author: Shan Y
Year: 2013
Journal: Antioxid Redox Signal
Title: Frataxin deficiency leads to defects in expression of antioxidants and Nrf2 expression in dorsal root ganglia of the Friedreich's ataxia YG8R mouse model.
Volume: 19
Issue: 13
Pages: 1481-93
Publication  
First Author: Rodríguez-Pascau L
Year: 2021
Journal: Neurobiol Dis
Title: PPAR gamma agonist leriglitazone improves frataxin-loss impairments in cellular and animal models of Friedreich Ataxia.
Volume: 148
Pages: 105162
Publication
First Author: Jones J
Year: 2013
Journal: PLoS One
Title: Stem cells from wildtype and Friedreich's ataxia mice present similar neuroprotective properties in dorsal root ganglia cells.
Volume: 8
Issue: 5
Pages: e62807
Publication
First Author: Muñoz-Lasso DC
Year: 2020
Journal: Sci Rep
Title: Cofilin dysregulation alters actin turnover in frataxin-deficient neurons.
Volume: 10
Issue: 1
Pages: 5207
Publication
First Author: Mollá B
Year: 2016
Journal: Dis Model Mech
Title: Two different pathogenic mechanisms, dying-back axonal neuropathy and pancreatic senescence, are present in the YG8R mouse model of Friedreich's ataxia.
Volume: 9
Issue: 6
Pages: 647-57
Publication
First Author: Calmels N
Year: 2009
Journal: PLoS One
Title: The first cellular models based on frataxin missense mutations that reproduce spontaneously the defects associated with Friedreich ataxia.
Volume: 4
Issue: 7
Pages: e6379
Publication
First Author: Fujita M
Year: 2009
Journal: Cancer Res
Title: Effective immunotherapy against murine gliomas using type 1 polarizing dendritic cells--significant roles of CXCL10.
Volume: 69
Issue: 4
Pages: 1587-95
Publication  
First Author: Fil D
Year: 2020
Journal: Dis Model Mech
Title: Mitochondrial damage and senescence phenotype of cells derived from a novel frataxin G127V point mutation mouse model of Friedreich's ataxia.
Volume: 13
Issue: 7
Publication
First Author: Chang JC
Year: 2024
Journal: Mol Ther Methods Clin Dev
Title: AAV8 gene therapy reverses cardiac pathology and prevents early mortality in a mouse model of Friedreich's ataxia.
Volume: 32
Issue: 1
Pages: 101193
Publication
First Author: Poburski D
Year: 2016
Journal: Biol Open
Title: Time-resolved functional analysis of acute impairment of frataxin expression in an inducible cell model of Friedreich ataxia.
Volume: 5
Issue: 5
Pages: 654-61
Publication
First Author: Cotticelli MG
Year: 2019
Journal: J Pharmacol Exp Ther
Title: Ferroptosis as a Novel Therapeutic Target for Friedreich's Ataxia.
Volume: 369
Issue: 1
Pages: 47-54
Publication  
First Author: Igoillo-Esteve M
Year: 2020
Journal: JCI Insight
Title: Exenatide induces frataxin expression and improves mitochondrial function in Friedreich ataxia.
Volume: 5
Issue: 2
Publication
First Author: Medina-Carbonero M
Year: 2022
Journal: Cell Mol Life Sci
Title: Mice harboring the FXN I151F pathological point mutation present decreased frataxin levels, a Friedreich ataxia-like phenotype, and mitochondrial alterations.
Volume: 79
Issue: 2
Pages: 74
Publication
First Author: Sarsero JP
Year: 2004
Journal: Mamm Genome
Title: Human BAC-mediated rescue of the Friedreich ataxia knockout mutation in transgenic mice.
Volume: 15
Issue: 5
Pages: 370-82
Publication
First Author: Sarsero JP
Year: 2014
Journal: PLoS One
Title: Rescue of the Friedreich ataxia knockout mutation in transgenic mice containing an FXN-EGFP genomic reporter.
Volume: 9
Issue: 3
Pages: e93307
Publication
First Author: Torremans A
Year: 2005
Journal: J Neurol Sci
Title: Biochemical and behavioural phenotyping of a mouse model for GAMT deficiency.
Volume: 231
Issue: 1-2
Pages: 49-55
Publication
First Author: Martiniuk F
Year: 1985
Journal: Hum Genet
Title: Further regional localization of the genes for human acid alpha glucosidase (GAA), peptidase D (PEPD), and alpha mannosidase B (MANB) by somatic cell hybridization.
Volume: 69
Issue: 2
Pages: 109-11
Publication
First Author: Jiralerspong S
Year: 1997
Journal: Neurobiol Dis
Title: Frataxin shows developmentally regulated tissue-specific expression in the mouse embryo.
Volume: 4
Issue: 2
Pages: 103-13
Publication
First Author: Zheng R
Year: 2010
Journal: J Cell Sci
Title: Polypurine-repeat-containing RNAs: a novel class of long non-coding RNA in mammalian cells.
Volume: 123
Issue: Pt 21
Pages: 3734-44
Publication  
First Author: Wilkes BJ
Year: 2021
Journal: Exp Neurol
Title: Cell-specific effects of Dyt1 knock-out on sensory processing, network-level connectivity, and motor deficits.
Volume: 343
Pages: 113783
Publication
First Author: Yokoi F
Year: 2012
Journal: Behav Brain Res
Title: Improved motor performance in Dyt1 ΔGAG heterozygous knock-in mice by cerebellar Purkinje-cell specific Dyt1 conditional knocking-out.
Volume: 230
Issue: 2
Pages: 389-98