INT277261

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Context Info
Confidence 0.60
First Reported 2009
Last Reported 2009
Negated 0
Speculated 2
Reported most in Body
Documents 1
Total Number 7
Disease Relevance 1.51
Pain Relevance 0.31

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

transport (Slc6a11) cytoplasm (Slc6a11)
Anatomy Link Frequency
brain 3
Slc6a11 (Mus musculus)
Pain Link Frequency Relevance Heat
gABA 63 99.64 Very High Very High Very High
GABAergic 70 97.98 Very High Very High Very High
imagery 70 5.00 Very Low Very Low Very Low
interneuron 7 5.00 Very Low Very Low Very Low
anesthesia 7 5.00 Very Low Very Low Very Low
medulla 7 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Movement Disorders 14 95.00 High High
Targeted Disruption 140 87.12 High High
Frailty 147 82.24 Quite High
Disease 77 70.40 Quite High
Neurodegenerative Disease 14 69.88 Quite High
Spinocerebellar Ataxia Type 2 35 50.00 Quite Low
Cognitive Disorder 7 39.12 Quite Low
Muscle Disease 14 38.08 Quite Low
Peripheral Arterial Disease 28 5.00 Very Low Very Low Very Low
Huntington's Chorea 14 5.00 Very Low Very Low Very Low

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
Further studies are needed to determine if GABT4 alternative splicing changes occur throughout the brain and to directly show if alternative splicing of exon 7 and NMD regulate GABT4/Gabt4 expression levels in both humans and mice.
Regulation (regulate) of Gabt4 in brain
1) Confidence 0.60 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2719092 Disease Relevance 0.27 Pain Relevance 0.04
Further studies are needed to determine if GABT4 alternative splicing changes occur throughout the brain and to directly show if alternative splicing of exon 7 and NMD regulate GABT4/Gabt4 expression levels in both humans and mice.
Regulation (regulate) of GABT4 in brain
2) Confidence 0.60 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2719092 Disease Relevance 0.27 Pain Relevance 0.04
To explore the molecular basis of the loss of GABAergic inhibition we investigated changes in expression levels and alternative splicing of the Cugbp1 CLIP target, Gabt4, in our mice.
Spec (investigated) Regulation (target) of Gabt4 associated with gabaergic
3) Confidence 0.60 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2719092 Disease Relevance 0.08 Pain Relevance 0.09
Third, we demonstrate SCA8 CUGexp transcripts trigger increased expression of a CUGBP1-MBNL1 regulated CNS target, GABT4, in both mice and humans as well as in a human cell culture model and demonstrate the predicted loss of GABAergic inhibition within the granular cell layer occurs in these animals.
Regulation (regulated) of GABT4 associated with gabaergic
4) Confidence 0.60 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2719092 Disease Relevance 0.08 Pain Relevance 0.05
Further studies are needed to determine if GABT4 alternative splicing changes occur throughout the brain and to directly show if alternative splicing of exon 7 and NMD regulate GABT4/Gabt4 expression levels in both humans and mice.
Spec (determine) Regulation (changes) of GABT4 in brain
5) Confidence 0.44 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2719092 Disease Relevance 0.27 Pain Relevance 0.04
GABT4 upregulation in human SCA8 autopsy tissue and cell culture studies supports a model in which GABT4 levels are regulated by alternative splicing changes and the NMD pathway.
Regulation (regulated) of GABT4
6) Confidence 0.26 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2719092 Disease Relevance 0.26 Pain Relevance 0
Additionally, we show that expression of ATXN8OS CUGexp transcripts dysregulate MBNL1-CUGBP1 pathways in the CNS and trigger downstream molecular changes in GABA-A transporter 4 (Gabt4) regulation through an RNA gain-of-function mechanism.


Regulation (regulation) of Gabt4 associated with gaba
7) Confidence 0.26 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2719092 Disease Relevance 0.29 Pain Relevance 0.05

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