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Search results 201 to 285 out of 285 for Atxn2

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Type Details Score
Publication
First Author: Scekic-Zahirovic J
Year: 2016
Journal: EMBO J
Title: Toxic gain of function from mutant FUS protein is crucial to trigger cell autonomous motor neuron loss.
Volume: 35
Issue: 10
Pages: 1077-97
Publication
First Author: Khang R
Year: 2021
Journal: Sci Rep
Title: Loss of zinc-finger protein 212 leads to Purkinje cell death and locomotive abnormalities with phospholipase D3 downregulation.
Volume: 11
Issue: 1
Pages: 22745
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: Mutant Mouse Regional Resource Centers
Year: 2004
Journal: Unpublished
Title: Information obtained from the Mutant Mouse Regional Resource Centers (MMRRC)
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Mouse Synonym Curation
Publication
First Author: Hansen J
Year: 2003
Journal: Proc Natl Acad Sci U S A
Title: A large-scale, gene-driven mutagenesis approach for the functional analysis of the mouse genome.
Volume: 100
Issue: 17
Pages: 9918-22
Publication
First Author: Stryke D
Year: 2003
Journal: Nucleic Acids Res
Title: BayGenomics: a resource of insertional mutations in mouse embryonic stem cells.
Volume: 31
Issue: 1
Pages: 278-81
Publication      
First Author: International Knockout Mouse Consortium
Year: 2014
Journal: Database Download
Title: MGI download of modified allele data from IKMC and creation of new knockout alleles
Publication      
First Author: International Mouse Strain Resource
Year: 2014
Journal: Database Download
Title: MGI download of germline transmission data for alleles from IMSR strain data
Publication      
First Author: Wellcome Trust Sanger Institute
Year: 2009
Journal: MGI Direct Data Submission
Title: Alleles produced for the KOMP project by the Wellcome Trust Sanger Institute
Publication
First Author: Hansen GM
Year: 2008
Journal: Genome Res
Title: Large-scale gene trapping in C57BL/6N mouse embryonic stem cells.
Volume: 18
Issue: 10
Pages: 1670-9
Publication        
First Author: DDB, FB, MGI, GOA, ZFIN curators
Year: 2001
Title: Gene Ontology annotation through association of InterPro records with GO terms
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: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Chromosome assignment of mouse genes using the Mouse Genome Sequencing Consortium (MGSC) assembly and the ENSEMBL Database
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: 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: The Jackson Laboratory Mouse Radiation Hybrid Database
Year: 2004
Journal: Database Release
Title: Mouse T31 Radiation Hybrid Data Load
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: 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: 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
Allele
Name: transgene insertion, Stefan M Pulst
Allele Type: Transgenic
Attribute String: Humanized sequence, Inserted expressed sequence
Allele
Name: ataxin 2; endonuclease-mediated mutation 1, Shanghai Model Organisms Center
Allele Type: Endonuclease-mediated
Attribute String: Null/knockout
Publication  
First Author: López-Juárez ZM
Year: 2021
Journal: Int J Mol Sci
Title: The ATXN2 Orthologs CID3 and CID4, Act Redundantly to In-Fluence Developmental Pathways throughout the Life Cycle of Arabidopsis thaliana.
Volume: 22
Issue: 6
Genotype
Symbol: Tg(ATXN2*72Q)#Plt/?
Background: FVB/N-Tg(ATXN2*72Q)#Plt
Zygosity: ot
Has Mutant Allele: true
Interaction Experiment
Description: Both ubiquitin ligases FBXW8 and PARK2 are sequestrated into insolubility by ATXN2 PolyQ expansions, but only FBXW8 expression is dysregulated.
Strain
Attribute String: coisogenic, mutant strain, endonuclease-mediated mutation
Allele
Name: transgene insertion, Stefan M Pulst
Allele Type: Transgenic
Attribute String: Humanized sequence, Inserted expressed sequence
Allele
Name: ataxin 2; targeted mutation 2.1, Georg Auburger
Allele Type: Targeted
Attribute String: Humanized sequence
DO Term
HT Experiment
Series Id: GSE39640
Experiment Type: transcription profiling by array
Study Type: WT vs. Mutant
Source: ArrayExpress
Transgene
Type: transgene
Organism: mouse, laboratory
Transgene
Type: transgene
Organism: mouse, laboratory
Genotype
Symbol: Tg(Pcp2-ATXN2*127Q)#Plt/?
Background: involves: C57BL/6 * DBA/2
Zygosity: ot
Has Mutant Allele: true
Genotype
Symbol: Atxn2/Atxn2
Background: B6.129S2-Atxn2
Zygosity: hm
Has Mutant Allele: true
DO Term
HT Experiment
Series Id: GSE55177
Experiment Type: transcription profiling by array
Study Type: WT vs. Mutant
Source: ArrayExpress
HT Experiment  
Experiment Type: RNA-Seq
Study Type: WT vs. Mutant
Source: GEO
Publication
First Author: Scoles DR
Year: 2017
Journal: Nature
Title: Antisense oligonucleotide therapy for spinocerebellar ataxia type 2.
Volume: 544
Issue: 7650
Pages: 362-366
Strain
Attribute String: coisogenic, mutant strain, transgenic
Protein Domain
Type: Domain
Description: This SM domain is found in Ataxin-2 [, ]. This domain has been shown to interact with RNA helicase DDX6 [].Ataxin-2 has many functions, such as endocytic receptor cycling [], translational regulation, embryonic development [], energy metabolism and weight regulation []. Mutations of the Ataxin-2 gene cause spinocerebellar ataxia 2 (SCA2), a neurodegenerative disorder leading to predominant loss of Purkinje cells in the cerebellum and impairment of motor coordination []. In SCA2, expansion of a CAG repeat in exon 1 of the Ataxin-2 (ATXN2) gene causes expansion of a polyQ domain in the ATXN2 protein []. ATXN2 has been shown to interact with many proteins. It interacts with multiple RNA-binding proteins (RBPs), staufen, IP3R, RGS8 mRNA, endophilins and CIN85 [].
Protein
Organism: Mus musculus/domesticus
Length: 218  
Fragment?: true
Publication
First Author: Nonhoff U
Year: 2007
Journal: Mol Biol Cell
Title: Ataxin-2 interacts with the DEAD/H-box RNA helicase DDX6 and interferes with P-bodies and stress granules.
Volume: 18
Issue: 4
Pages: 1385-96
Protein
Organism: Mus musculus/domesticus
Length: 1049  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 1096  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 863  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 890  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 994  
Fragment?: false
Publication
First Author: Neuwald AF
Year: 1998
Journal: J Mol Med (Berl)
Title: Ataxin-2, global regulators of bacterial gene expression, and spliceosomal snRNP proteins share a conserved domain.
Volume: 76
Issue: 1
Pages: 3-5
Publication
First Author: Mangus DA
Year: 1998
Journal: Mol Cell Biol
Title: Pbp1p, a factor interacting with Saccharomyces cerevisiae poly(A)-binding protein, regulates polyadenylation.
Volume: 18
Issue: 12
Pages: 7383-96
Publication
First Author: Mangus DA
Year: 2004
Journal: Mol Cell Biol
Title: Identification of factors regulating poly(A) tail synthesis and maturation.
Volume: 24
Issue: 10
Pages: 4196-206
Publication
First Author: Yang YS
Year: 2019
Journal: Cell
Title: Yeast Ataxin-2 Forms an Intracellular Condensate Required for the Inhibition of TORC1 Signaling during Respiratory Growth.
Volume: 177
Issue: 3
Pages: 697-710.e17
Publication
First Author: Buchan JR
Year: 2008
Journal: J Cell Biol
Title: P bodies promote stress granule assembly in Saccharomyces cerevisiae.
Volume: 183
Issue: 3
Pages: 441-55
Protein
Organism: Mus musculus/domesticus
Length: 144  
Fragment?: true
Publication
First Author: Anantharaman V
Year: 2002
Journal: Nucleic Acids Res
Title: Comparative genomics and evolution of proteins involved in RNA metabolism.
Volume: 30
Issue: 7
Pages: 1427-64
Publication
First Author: Ralser M
Year: 2005
Journal: Hum Mol Genet
Title: Ataxin-2 and huntingtin interact with endophilin-A complexes to function in plastin-associated pathways.
Volume: 14
Issue: 19
Pages: 2893-909
Protein Domain
Type: Domain
Description: This domain can be found in eukaryotic ataxin-2 []. Ataxin-2 is predicted to consist of mostly non-globular domains []. This domain has been shown to interact with RNA helicase DDX6 [].Ataxin-2 has many functions, such as endocytic receptor cycling [], translational regulation, embryonic development [], energy metabolism and weight regulation []. Mutations of the Ataxin-2 gene cause spinocerebellar ataxia 2 (SCA2), a neurodegenerative disorder leading to predominant loss of Purkinje cells in the cerebellum and impairment of motor coordination []. In SCA2, expansion of a CAG repeat in exon 1 of the Ataxin-2 (ATXN2) gene causes expansion of a polyQ domain in the ATXN2 protein []. ATXN2 has been shown to interact with many proteins. It interacts with multiple RNA-binding proteins (RBPs), staufen, IP3R, RGS8 mRNA, endophilins and CIN85 [].Proteins containing this domain also include Pbp1 from budding yeasts, Pbp1 interacts with Pab1 to regulate mRNA polyadenylation [, ]. It promotes mating-type switching in mother cells by positively regulating HO mRNA translation []and forms a condensate in response to respiratory status to regulate TORC1 signaling []. It is also involved in P-body-dependent granule assembly [].
Protein Domain
Type: Family
Description: This entry represents a group of RNA-binding proteins , including Ataxin-2 from animals, Pbp1 from fungi and Cid3/4 from Arabidopsis.Ataxin-2 has many functions, such as endocytic receptor cycling [], translational regulation, embryonic development [], energy metabolism and weight regulation []. Mutations of the Ataxin-2 gene cause spinocerebellar ataxia 2 (SCA2), a neurodegenerative disorder leading to predominant loss of Purkinje cells in the cerebellum and impairment of motor coordination []. In SCA2, expansion of a CAG repeat in exon 1 of the Ataxin-2 (ATXN2) gene causes expansion of a polyQ domain in the ATXN2 protein []. ATXN2 has been shown to interact with many proteins. It interacts with multiple RNA-binding proteins (RBPs), staufen, IP3R, RGS8 mRNA, endophilins and CIN85 [].Pbp1 interacts with Pab1 to regulate mRNA polyadenylation [, ]. It promotes mating-type switching in mother cells by positively regulating HO mRNA translation []and forms a condensate in response to respiratory status to regulate TORC1 signalling []. It is also involved in P-body-dependent granule assembly [].Cid3/4 may have a role in developmental pathways throughout the life cycle of plants [].
Publication
First Author: White MA
Year: 2018
Journal: Nat Neurosci
Title: TDP-43 gains function due to perturbed autoregulation in a Tardbp knock-in mouse model of ALS-FTD.
Volume: 21
Issue: 4
Pages: 552-563
Publication
First Author: Vieira de Sá R
Year: 2024
Journal: Nat Commun
Title: ATAXIN-2 intermediate-length polyglutamine expansions elicit ALS-associated metabolic and immune phenotypes.
Volume: 15
Issue: 1
Pages: 7484
Publication
First Author: Lastres-Becker I
Year: 2016
Journal: Biochim Biophys Acta
Title: Mammalian ataxin-2 modulates translation control at the pre-initiation complex via PI3K/mTOR and is induced by starvation.
Volume: 1862
Issue: 9
Pages: 1558-69
HT Experiment
Series Id: GSE54418
Experiment Type: transcription profiling by array
Study Type: WT vs. Mutant
Source: ArrayExpress
Publication
First Author: Diaz-Garcia S
Year: 2021
Journal: Acta Neuropathol
Title: Nuclear depletion of RNA-binding protein ELAVL3 (HuC) in sporadic and familial amyotrophic lateral sclerosis.
Volume: 142
Issue: 6
Pages: 985-1001
Publication  
First Author: Key J
Year: 2020
Journal: Int J Mol Sci
Title: Mid-Gestation lethality of Atxn2l-Ablated Mice.
Volume: 21
Issue: 14
Publication
First Author: Tadauchi T
Year: 2004
Journal: Mol Cell Biol
Title: Posttranscriptional regulation of HO expression by the Mkt1-Pbp1 complex.
Volume: 24
Issue: 9
Pages: 3670-81
Publication
First Author: Scoles DR
Year: 2012
Journal: Hum Mol Genet
Title: ETS1 regulates the expression of ATXN2.
Volume: 21
Issue: 23
Pages: 5048-65
Publication
First Author: Heck MV
Year: 2014
Journal: Neurogenetics
Title: Dysregulated expression of lipid storage and membrane dynamics factors in Tia1 knockout mouse nervous tissue.
Volume: 15
Issue: 2
Pages: 135-44