INT235138

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Context Info
Confidence 0.76
First Reported 2005
Last Reported 2009
Negated 0
Speculated 0
Reported most in Body
Documents 2
Total Number 26
Disease Relevance 6.89
Pain Relevance 1.05

This is a graph with borders and nodes. Maybe there is an Imagemap used so the nodes may be linking to some Pages.

cytoplasm (Atxn8os)
Anatomy Link Frequency
row 3
cerebellum 1
Atxn8os (Mus musculus)
Pain Link Frequency Relevance Heat
gABA 225 95.64 Very High Very High Very High
interneuron 25 93.84 High High
medulla 25 93.12 High High
GABAergic 250 89.60 High High
imagery 250 62.00 Quite High
Calcium channel 5 25.44 Quite Low
Migraine 1 13.20 Low Low
anesthesia 25 5.00 Very Low Very Low Very Low
Kinase C 1 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Spinocerebellar Ataxia Type 2 142 100.00 Very High Very High Very High
Targeted Disruption 508 99.80 Very High Very High Very High
Ataxia 58 98.98 Very High Very High Very High
Disease 303 98.28 Very High Very High Very High
Neuroblastoma 25 96.20 Very High Very High Very High
Huntington's Chorea 50 95.60 Very High Very High Very High
Frailty 526 94.52 High High
Neurological Disease 26 92.20 High High
Neuromuscular Disease 25 79.92 Quite High
Neurodegenerative Disease 52 75.96 Quite High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
In contrast to other disorders in which polyQ expansions are expressed as part of a mature protein, the SCA8 CAGexp is expressed as a nearly pure polyQ tract.
Gene_expression (expressed) of SCA8
1) Confidence 0.76 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2719092 Disease Relevance 0.21 Pain Relevance 0.04
The expression of CUGexp transcripts from ATXN8OS in addition to CAGexp transcripts and a polyglutamine protein from ATXN8 suggests that SCA8 involves toxic gain-of-function effects at both the RNA (CUGexp) and protein (PolyQ) levels.
Gene_expression (expression) of ATXN8
2) Confidence 0.76 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2719092 Disease Relevance 0.63 Pain Relevance 0.09
The SCA8 mutation is bidirectionally transcribed resulting in the expression of CUGexp transcripts from ATXN8OS and CAGexp transcripts and polyglutamine protein from the overlapping ATXN8 gene.
Gene_expression (expression) of ATXN8OS
3) Confidence 0.76 Published 2009 Journal PLoS Genetics Section Abstract Doc Link PMC2719092 Disease Relevance 0.45 Pain Relevance 0.11
Bi-directional expression of the spinocerebellar ataxia type 8 (SCA8) CTG CAG expansion produces CUG expansion RNAs (CUGexp) from the ATXN8OS gene and a nearly pure polyglutamine expansion protein encoded by ATXN8 CAGexp transcripts expressed in the opposite direction.
Gene_expression (expression) of SCA8 associated with spinocerebellar ataxia type 2
4) Confidence 0.76 Published 2009 Journal PLoS Genetics Section Abstract Doc Link PMC2719092 Disease Relevance 0.27 Pain Relevance 0.03
Transient transfections were performed using minigenes (Figure 6A) designed to express SCA8 CUG (SCA8-CTGexp) or CAG expansion transcripts (SCA8-REV CAGexp).
Gene_expression (express) of SCA8
5) Confidence 0.76 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2719092 Disease Relevance 0.10 Pain Relevance 0
While expression of the SCA8 CUGexp and CAGexp transcripts and GABT4 overlap in both the cerebellum and the frontal lobe, only frontal lobe tissue was suitable for analysis because of significant cell loss in the cerebellum caused by neurodegeneration in SCA8 patients.
Gene_expression (expression) of SCA8 in cerebellum
6) Confidence 0.76 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2719092 Disease Relevance 0.21 Pain Relevance 0.10
Transient transfections were performed using minigenes (Figure 6A) designed to express SCA8 CUG (SCA8-CTGexp) or CAG expansion transcripts (SCA8-REV CAGexp).
Gene_expression (express) of SCA8
7) Confidence 0.76 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2719092 Disease Relevance 0.10 Pain Relevance 0
Transient transfections were performed using minigenes (Figure 6A) designed to express SCA8 CUG (SCA8-CTGexp) or CAG expansion transcripts (SCA8-REV CAGexp).
Gene_expression (express) of SCA8
8) Confidence 0.76 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2719092 Disease Relevance 0.10 Pain Relevance 0
Transient transfections were performed using 1 µg of SCA8 repeat expressing plasmids, pEGFP-N1-CUGBP1, or pEGFP-C1-MBNL1/41 minigenes and Lipofectamine 2000 Reagent (Invitrogen, Carlsbad, CA).
Gene_expression (expressing) of SCA8
9) Confidence 0.76 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2719092 Disease Relevance 0.07 Pain Relevance 0
The expression of CUGexp transcripts from ATXN8OS in addition to CAGexp transcripts and a polyglutamine protein from ATXN8 suggests that SCA8 involves toxic gain-of-function effects at both the RNA (CUGexp) and protein (PolyQ) levels.
Gene_expression (expression) of ATXN8OS
10) Confidence 0.66 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2719092 Disease Relevance 0.60 Pain Relevance 0.09
Cells overexpressing CUGBP1 (p<0.0001) or SCA8 exon A CTGexp minigenes show increases in GABT4 RNA (p?
Gene_expression (exon) of SCA8
11) Confidence 0.66 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2719092 Disease Relevance 0 Pain Relevance 0
Interestingly, no exon 7 splicing shifts or increases in GABT4 expression were found in DM1 autopsy tissue, possibly reflecting differences in spatial or temporal expression of the SCA8 and DM1 CUGexp transcripts.
Gene_expression (expression) of SCA8
12) Confidence 0.66 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2719092 Disease Relevance 0.15 Pain Relevance 0
0.006) while expression of the SCA8 CAGexp construct compared to vector alone had no effect (p?
Gene_expression (expression) of SCA8
13) Confidence 0.66 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2719092 Disease Relevance 0.08 Pain Relevance 0
The SCA8 mutation is bidirectionally transcribed resulting in the expression of CUGexp transcripts from ATXN8OS and CAGexp transcripts and polyglutamine protein from the overlapping ATXN8 gene.
Gene_expression (expression) of ATXN8
14) Confidence 0.66 Published 2009 Journal PLoS Genetics Section Abstract Doc Link PMC2719092 Disease Relevance 0.45 Pain Relevance 0.14
These data suggest a model in which developmental alternative splicing changes in human normally lead to lower levels of GABT4 in adult tissue and higher levels in SCA8 and during fetal development.
Gene_expression (levels) of SCA8
15) Confidence 0.66 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2719092 Disease Relevance 0.08 Pain Relevance 0
An alternative hypothesis is that the SCA8 expansion affects the expression of an overlapping gene, KLHL1 and although Klhl1 knockout mice have a subtle phenotype, the relevance of this model to the human disease is unclear [4].
Gene_expression (expansion) of SCA8 associated with targeted disruption and disease
16) Confidence 0.66 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2719092 Disease Relevance 0.77 Pain Relevance 0.08
Bi-directional expression of the spinocerebellar ataxia type 8 (SCA8) CTG CAG expansion produces CUG expansion RNAs (CUGexp) from the ATXN8OS gene and a nearly pure polyglutamine expansion protein encoded by ATXN8 CAGexp transcripts expressed in the opposite direction.
Gene_expression (produces) of ATXN8OS associated with spinocerebellar ataxia type 2
17) Confidence 0.66 Published 2009 Journal PLoS Genetics Section Abstract Doc Link PMC2719092 Disease Relevance 0.26 Pain Relevance 0.06
ExonA of containing the SCA8 expansion was amplified by PCR from the BAC transgene construct, BAC-exp, using the 5?
Gene_expression (expansion) of SCA8
18) Confidence 0.66 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2719092 Disease Relevance 0.16 Pain Relevance 0
While these data suggest that ribonuclear inclusions are less likely to form in patients with shorter expansions, CUG RNA foci were readily detectable in SCA8 BAC transgenic mice which express similarly sized SCA8 ATXN8OS (CUG)116 transcripts under the control of the endogenous human promoter (Figure 1A, bottom row).
Gene_expression (detectable) of SCA8 in row associated with targeted disruption
19) Confidence 0.66 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2719092 Disease Relevance 0.15 Pain Relevance 0.05
While these data suggest that ribonuclear inclusions are less likely to form in patients with shorter expansions, CUG RNA foci were readily detectable in SCA8 BAC transgenic mice which express similarly sized SCA8 ATXN8OS (CUG)116 transcripts under the control of the endogenous human promoter (Figure 1A, bottom row).
Gene_expression (express) of SCA8 in row associated with targeted disruption
20) Confidence 0.59 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2719092 Disease Relevance 0.15 Pain Relevance 0.05

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