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Search results 1 to 100 out of 956 for Atxn7

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Type Details Score
Gene
Type: gene
Organism: human
Gene
Type: gene
Organism: chimpanzee
Gene
Type: gene
Organism: cattle
Gene
Type: gene
Organism: chicken
Gene
Type: gene
Organism: zebrafish
Gene
Type: gene
Organism: macaque, rhesus
Gene
Type: gene
Organism: frog, western clawed
Gene
Type: gene
Organism: rat
Gene
Type: gene
Organism: dog, domestic
Protein Domain
Type: Family
Description: Ataxin-7 (ATXN7) is a component of mammalian STAGA (SPT3-TAF9-ADA-GCN5 acetyltransferase) transcription co-activator complex []. Ataxin-7 associates with microtubules and stabilises the cytoskeletal network []. Normal ATXN7 contains 4-35 CAG repeats, whereas pathogenic variants show an expansion of 36-306 repeats of this CAG repeat encoding polyglutamine (polyQ) that causes spinocerebellar ataxia 7 (SCA7), a neurodegenerative disorder characterised by cerebellar ataxia associated with progressive macular dystrophy []. Polyglutamine-expanded ATXN7 inhibits STAGA histone acetyltransferase activity [, ].
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein
Organism: Mus musculus/domesticus
Length: 870  
Fragment?: false
Publication
First Author: Nakamura Y
Year: 2012
Journal: Hum Mol Genet
Title: Ataxin-7 associates with microtubules and stabilizes the cytoskeletal network.
Volume: 21
Issue: 5
Pages: 1099-110
Protein
Organism: Mus musculus/domesticus
Length: 106  
Fragment?: true
Publication
First Author: Jiang YJ
Year: 2013
Journal: FEBS Lett
Title: Structural basis for recognition of the third SH3 domain of full-length R85 (R85FL)/ponsin by ataxin-7.
Volume: 587
Issue: 18
Pages: 2905-11
Publication
First Author: David G
Year: 1997
Journal: Nat Genet
Title: Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion.
Volume: 17
Issue: 1
Pages: 65-70
Publication
First Author: Palhan VB
Year: 2005
Journal: Proc Natl Acad Sci U S A
Title: Polyglutamine-expanded ataxin-7 inhibits STAGA histone acetyltransferase activity to produce retinal degeneration.
Volume: 102
Issue: 24
Pages: 8472-7
Protein
Organism: Mus musculus/domesticus
Length: 867  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 920  
Fragment?: false
Publication
First Author: McMahon SJ
Year: 2005
Journal: Proc Natl Acad Sci U S A
Title: Polyglutamine-expanded spinocerebellar ataxia-7 protein disrupts normal SAGA and SLIK histone acetyltransferase activity.
Volume: 102
Issue: 24
Pages: 8478-82
Publication
First Author: Kahle JJ
Year: 2011
Journal: Hum Mol Genet
Title: Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxia.
Volume: 20
Issue: 3
Pages: 510-27
Publication
First Author: Janer A
Year: 2010
Journal: Hum Mol Genet
Title: SUMOylation attenuates the aggregation propensity and cellular toxicity of the polyglutamine expanded ataxin-7.
Volume: 19
Issue: 1
Pages: 181-95
Publication
First Author: Helmlinger D
Year: 2006
Journal: PLoS Biol
Title: Glutamine-expanded ataxin-7 alters TFTC/STAGA recruitment and chromatin structure leading to photoreceptor dysfunction.
Volume: 4
Issue: 3
Pages: e67
Publication
First Author: Niewiadomska-Cimicka A
Year: 2021
Journal: J Neurosci
Title: SCA7 Mouse Cerebellar Pathology Reveals Preferential Downregulation of Key Purkinje Cell-Identity Genes and Shared Disease Signature with SCA1 and SCA2.
Volume: 41
Issue: 22
Pages: 4910-4936
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus caroli
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus pahari
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus spretus
Publication
First Author: Ström AL
Year: 2002
Journal: Gene
Title: Cloning and expression analysis of the murine homolog of the spinocerebellar ataxia type 7 (SCA7) gene.
Volume: 285
Issue: 1-2
Pages: 91-9
Publication
First Author: La Spada AR
Year: 2001
Journal: Neuron
Title: Polyglutamine-expanded ataxin-7 antagonizes CRX function and induces cone-rod dystrophy in a mouse model of SCA7.
Volume: 31
Issue: 6
Pages: 913-27
Publication
First Author: Yvert G
Year: 2000
Journal: Hum Mol Genet
Title: Expanded polyglutamines induce neurodegeneration and trans-neuronal alterations in cerebellum and retina of SCA7 transgenic mice.
Volume: 9
Issue: 17
Pages: 2491-506
Publication
First Author: Helmlinger D
Year: 2002
Journal: Hum Mol Genet
Title: Progressive retinal degeneration and dysfunction in R6 Huntington's disease mice.
Volume: 11
Issue: 26
Pages: 3351-9
Publication
First Author: Garden GA
Year: 2002
Journal: J Neurosci
Title: Polyglutamine-expanded ataxin-7 promotes non-cell-autonomous purkinje cell degeneration and displays proteolytic cleavage in ataxic transgenic mice.
Volume: 22
Issue: 12
Pages: 4897-905
Publication
First Author: Grote SK
Year: 2003
Journal: Cytogenet Genome Res
Title: Insights into the molecular basis of polyglutamine neurodegeneration from studies of a spinocerebellar ataxia type 7 mouse model.
Volume: 100
Issue: 1-4
Pages: 164-74
Publication
First Author: Noma S
Year: 2012
Journal: Neurosci Res
Title: Overexpression of HGF attenuates the degeneration of Purkinje cells and Bergmann glia in a knockin mouse model of spinocerebellar ataxia type 7.
Volume: 73
Issue: 2
Pages: 115-21
Publication
First Author: Ward JM
Year: 2019
Journal: Cell Rep
Title: Metabolic and Organelle Morphology Defects in Mice and Human Patients Define Spinocerebellar Ataxia Type 7 as a Mitochondrial Disease.
Volume: 26
Issue: 5
Pages: 1189-1202.e6
Publication
First Author: Bowman AB
Year: 2005
Journal: Hum Mol Genet
Title: Neuronal dysfunction in a polyglutamine disease model occurs in the absence of ubiquitin-proteasome system impairment and inversely correlates with the degree of nuclear inclusion formation.
Volume: 14
Issue: 5
Pages: 679-91
Publication
First Author: Switonski PM
Year: 2021
Journal: Cell Rep
Title: Altered H3 histone acetylation impairs high-fidelity DNA repair to promote cerebellar degeneration in spinocerebellar ataxia type 7.
Volume: 37
Issue: 9
Pages: 110062
Publication
First Author: Libby RT
Year: 2003
Journal: Hum Mol Genet
Title: Genomic context drives SCA7 CAG repeat instability, while expressed SCA7 cDNAs are intergenerationally and somatically stable in transgenic mice.
Volume: 12
Issue: 1
Pages: 41-50
Publication
First Author: Helmlinger D
Year: 2004
Journal: J Biol Chem
Title: Hsp70 and Hsp40 chaperones do not modulate retinal phenotype in SCA7 mice.
Volume: 279
Issue: 53
Pages: 55969-77
Publication
First Author: Wang HL
Year: 2010
Journal: Exp Neurol
Title: Polyglutamine-expanded ataxin-7 upregulates Bax expression by activating p53 in cerebellar and inferior olivary neurons.
Volume: 224
Issue: 2
Pages: 486-94
Publication
First Author: Furrer SA
Year: 2013
Journal: Hum Mol Genet
Title: Reduction of mutant ataxin-7 expression restores motor function and prevents cerebellar synaptic reorganization in a conditional mouse model of SCA7.
Volume: 22
Issue: 5
Pages: 890-903
GXD Expression      
Probe: MGI:3805737
Assay Type: Western blot
Annotation Date: 2008-09-14
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1610528
Stage: TS28
Assay Id: MGI:3805750
Age: postnatal
Specimen Label: Heart
Detected: true
Specimen Num: 1
GXD Expression      
Probe: MGI:3805737
Assay Type: Western blot
Annotation Date: 2008-09-14
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1689428
Stage: TS28
Assay Id: MGI:3805750
Age: postnatal
Specimen Label: Brain
Detected: true
Specimen Num: 2
GXD Expression      
Probe: MGI:3805737
Assay Type: Western blot
Annotation Date: 2008-09-14
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1876728
Stage: TS28
Assay Id: MGI:3805750
Age: postnatal
Specimen Label: Spleen
Detected: true
Specimen Num: 3
GXD Expression      
Probe: MGI:3805737
Assay Type: Western blot
Annotation Date: 2008-09-14
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1672828
Stage: TS28
Assay Id: MGI:3805750
Age: postnatal
Specimen Label: Lung
Detected: true
Specimen Num: 4
GXD Expression      
Probe: MGI:3805737
Assay Type: Western blot
Annotation Date: 2008-09-14
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1684628
Stage: TS28
Assay Id: MGI:3805750
Age: postnatal
Specimen Label: Liver
Detected: true
Specimen Num: 5
GXD Expression      
Probe: MGI:3805737
Assay Type: Western blot
Annotation Date: 2008-09-14
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3598828
Stage: TS28
Assay Id: MGI:3805750
Age: postnatal
Specimen Label: Skeletal muscle
Detected: true
Specimen Num: 6
GXD Expression      
Probe: MGI:3805737
Assay Type: Western blot
Annotation Date: 2008-09-14
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1737328
Stage: TS28
Assay Id: MGI:3805750
Age: postnatal
Specimen Label: Kidney
Detected: true
Specimen Num: 7
GXD Expression      
Probe: MGI:3805737
Assay Type: Western blot
Annotation Date: 2008-09-14
Strength: Present
Sex: Male
Emaps: EMAPS:1797228
Stage: TS28
Assay Id: MGI:3805750
Age: postnatal
Specimen Label: Testis
Detected: true
Specimen Num: 8
GXD Expression      
Probe: MGI:3805739
Assay Type: Western blot
Annotation Date: 2008-09-14
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1610528
Stage: TS28
Assay Id: MGI:3805751
Age: postnatal
Specimen Label: Heart
Detected: false
Specimen Num: 1
GXD Expression      
Probe: MGI:3805739
Assay Type: Western blot
Annotation Date: 2008-09-14
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1689428
Stage: TS28
Assay Id: MGI:3805751
Age: postnatal
Specimen Label: Brain
Detected: false
Specimen Num: 2
GXD Expression      
Probe: MGI:3805739
Assay Type: Western blot
Annotation Date: 2008-09-14
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1876728
Stage: TS28
Assay Id: MGI:3805751
Age: postnatal
Specimen Label: Spleen
Detected: false
Specimen Num: 3
GXD Expression      
Probe: MGI:3805739
Assay Type: Western blot
Annotation Date: 2008-09-14
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1672828
Stage: TS28
Assay Id: MGI:3805751
Age: postnatal
Specimen Label: Lung
Detected: false
Specimen Num: 4
GXD Expression      
Probe: MGI:3805739
Assay Type: Western blot
Annotation Date: 2008-09-14
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1684628
Stage: TS28
Assay Id: MGI:3805751
Age: postnatal
Specimen Label: Liver
Detected: false
Specimen Num: 5
GXD Expression      
Probe: MGI:3805739
Assay Type: Western blot
Annotation Date: 2008-09-14
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:3598828
Stage: TS28
Assay Id: MGI:3805751
Age: postnatal
Specimen Label: Skeletal muscle
Detected: false
Specimen Num: 6
GXD Expression      
Probe: MGI:3805739
Assay Type: Western blot
Annotation Date: 2008-09-14
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1737328
Stage: TS28
Assay Id: MGI:3805751
Age: postnatal
Specimen Label: Kidney
Detected: false
Specimen Num: 7
GXD Expression      
Probe: MGI:3805739
Assay Type: Western blot
Annotation Date: 2008-09-14
Strength: Absent
Sex: Male
Emaps: EMAPS:1797228
Stage: TS28
Assay Id: MGI:3805751
Age: postnatal
Specimen Label: Testis
Detected: false
Specimen Num: 8
GXD Expression      
Probe: MGI:3805741
Assay Type: Western blot
Annotation Date: 2008-09-14
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1610528
Stage: TS28
Assay Id: MGI:3805752
Age: postnatal
Specimen Label: Heart
Detected: false
Specimen Num: 1
GXD Expression      
Probe: MGI:3805741
Assay Type: Western blot
Annotation Date: 2008-09-14
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1689428
Stage: TS28
Assay Id: MGI:3805752
Age: postnatal
Specimen Label: Brain
Detected: false
Specimen Num: 2
GXD Expression      
Probe: MGI:3805741
Assay Type: Western blot
Annotation Date: 2008-09-14
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1876728
Stage: TS28
Assay Id: MGI:3805752
Age: postnatal
Specimen Label: Spleen
Detected: false
Specimen Num: 3
GXD Expression      
Probe: MGI:3805741
Assay Type: Western blot
Annotation Date: 2008-09-14
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1672828
Stage: TS28
Assay Id: MGI:3805752
Age: postnatal
Specimen Label: Lung
Detected: false
Specimen Num: 4
GXD Expression      
Probe: MGI:3805741
Assay Type: Western blot
Annotation Date: 2008-09-14
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1684628
Stage: TS28
Assay Id: MGI:3805752
Age: postnatal
Specimen Label: Liver
Detected: false
Specimen Num: 5
GXD Expression      
Probe: MGI:3805741
Assay Type: Western blot
Annotation Date: 2008-09-14
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:3598828
Stage: TS28
Assay Id: MGI:3805752
Age: postnatal
Specimen Label: Skeletal muscle
Detected: false
Specimen Num: 6
GXD Expression      
Probe: MGI:3805741
Assay Type: Western blot
Annotation Date: 2008-09-14
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1737328
Stage: TS28
Assay Id: MGI:3805752
Age: postnatal
Specimen Label: Kidney
Detected: false
Specimen Num: 7
GXD Expression      
Probe: MGI:3805741
Assay Type: Western blot
Annotation Date: 2008-09-14
Strength: Absent
Sex: Male
Emaps: EMAPS:1797228
Stage: TS28
Assay Id: MGI:3805752
Age: postnatal
Specimen Label: Testis
Detected: false
Specimen Num: 8
GXD Expression      
Probe: MGI:3805753
Assay Type: Northern blot
Annotation Date: 2008-09-14
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1610528
Stage: TS28
Assay Id: MGI:3805755
Age: postnatal
Specimen Label: Heart
Detected: true
Specimen Num: 1
GXD Expression      
Probe: MGI:3805753
Assay Type: Northern blot
Annotation Date: 2008-09-14
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1689428
Stage: TS28
Assay Id: MGI:3805755
Age: postnatal
Specimen Label: Brain
Detected: true
Specimen Num: 2
GXD Expression      
Probe: MGI:3805753
Assay Type: Northern blot
Annotation Date: 2008-09-14
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1876728
Stage: TS28
Assay Id: MGI:3805755
Age: postnatal
Specimen Label: Spleen
Detected: true
Specimen Num: 3
GXD Expression      
Probe: MGI:3805753
Assay Type: Northern blot
Annotation Date: 2008-09-14
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1672828
Stage: TS28
Assay Id: MGI:3805755
Age: postnatal
Specimen Label: Lung
Detected: true
Specimen Num: 4
GXD Expression      
Probe: MGI:3805753
Assay Type: Northern blot
Annotation Date: 2008-09-14
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1684628
Stage: TS28
Assay Id: MGI:3805755
Age: postnatal
Specimen Label: Liver
Detected: true
Specimen Num: 5
GXD Expression      
Probe: MGI:3805753
Assay Type: Northern blot
Annotation Date: 2008-09-14
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3598828
Stage: TS28
Assay Id: MGI:3805755
Age: postnatal
Specimen Label: Skeletal muscle
Detected: true
Specimen Num: 6
GXD Expression      
Probe: MGI:3805753
Assay Type: Northern blot
Annotation Date: 2008-09-14
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1737328
Stage: TS28
Assay Id: MGI:3805755
Age: postnatal
Specimen Label: Kidney
Detected: true
Specimen Num: 7
GXD Expression      
Probe: MGI:3805753
Assay Type: Northern blot
Annotation Date: 2008-09-14
Strength: Present
Sex: Male
Emaps: EMAPS:1737328
Stage: TS28
Assay Id: MGI:3805755
Age: postnatal
Specimen Label: Testis
Detected: true
Specimen Num: 8
GXD Expression      
Probe: MGI:3805753
Assay Type: Northern blot
Annotation Date: 2008-09-14
Strength: Present
Sex: Male
Emaps: EMAPS:1797228
Stage: TS28
Assay Id: MGI:3805755
Age: postnatal
Specimen Label: Testis
Detected: true
Specimen Num: 8
GXD Expression      
Probe: MGI:3805753
Assay Type: Northern blot
Annotation Date: 2008-09-14
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1603910
Stage: TS10
Assay Id: MGI:3805756
Age: embryonic day 7.0
Specimen Label: E7
Detected: true
Specimen Num: 1
GXD Expression      
Probe: MGI:3805753
Assay Type: Northern blot
Annotation Date: 2008-09-14
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1603918
Stage: TS18
Assay Id: MGI:3805756
Age: embryonic day 11.0
Specimen Label: E11
Detected: true
Specimen Num: 2
GXD Expression      
Probe: MGI:3805753
Assay Type: Northern blot
Annotation Date: 2008-09-14
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1603923
Stage: TS23
Assay Id: MGI:3805756
Age: embryonic day 15.0
Specimen Label: E15
Detected: true
Specimen Num: 3
GXD Expression      
Probe: MGI:3805753
Assay Type: Northern blot
Annotation Date: 2008-09-14
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1603925
Stage: TS25
Assay Id: MGI:3805756
Age: embryonic day 17.0
Specimen Label: E17
Detected: true
Specimen Num: 4
GXD Expression      
Probe: MGI:3805737
Assay Type: Western blot
Annotation Date: 2009-05-27
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1750328
Stage: TS28
Assay Id: MGI:3845549
Age: postnatal
Specimen Label: Not shown
Detected: true
Specimen Num: 1
GXD Expression    
Probe: MGI:7447140
Assay Type: RT-PCR
Annotation Date: 2023-03-23
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1783824
Stage: TS24
Assay Id: MGI:7447161
Age: embryonic day 16.5
Image: S11
Specimen Label: E16.5
Detected: true
Specimen Num: 1
GXD Expression    
Probe: MGI:7447140
Assay Type: RT-PCR
Annotation Date: 2023-03-23
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1783827
Stage: TS27
Assay Id: MGI:7447161
Age: postnatal day 3
Image: S11
Specimen Label: P3
Detected: true
Specimen Num: 2
GXD Expression  
Probe: MGI:205094
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Strong
Sex: Not Specified
Emaps: EMAPS:1665823
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4823350
Age: embryonic day 14.5
Image: euxassay_007505_01
Specimen Label: euxassay_007505_01
Detected: true
Specimen Num: 1
GXD Expression  
Probe: MGI:205094
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Strong
Sex: Not Specified
Emaps: EMAPS:1665823
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4823350
Age: embryonic day 14.5
Image: euxassay_007505_02
Specimen Label: euxassay_007505_02
Detected: true
Specimen Num: 2
GXD Expression  
Probe: MGI:205094
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Strong
Sex: Not Specified
Emaps: EMAPS:1665823
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4823350
Age: embryonic day 14.5
Image: euxassay_007505_03
Specimen Label: euxassay_007505_03
Detected: true
Specimen Num: 3