INT255132

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Context Info
Confidence 0.54
First Reported 2008
Last Reported 2010
Negated 2
Speculated 0
Reported most in Body
Documents 15
Total Number 15
Disease Relevance 2.58
Pain Relevance 0.27

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

mRNA processing (Mbnl1) RNA binding (Mbnl1) nucleus (Mbnl1)
cytoplasm (Mbnl1)
Anatomy Link Frequency
myoblasts 2
heart 2
cardiomyocytes 1
muscle 1
brain 1
Mbnl1 (Mus musculus)
Pain Link Frequency Relevance Heat
gABA 9 94.04 High High
anesthesia 25 87.20 High High
imagery 10 84.00 Quite High
GABAergic 10 75.84 Quite High
tolerance 37 5.00 Very Low Very Low Very Low
fibrosis 12 5.00 Very Low Very Low Very Low
cytokine 2 5.00 Very Low Very Low Very Low
Central nervous system 2 5.00 Very Low Very Low Very Low
Kinase C 2 5.00 Very Low Very Low Very Low
spastic colon 1 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Congenital Anomalies 119 98.56 Very High Very High Very High
Toxicity 138 98.16 Very High Very High Very High
Hypopituitarism 25 97.48 Very High Very High Very High
Targeted Disruption 263 97.36 Very High Very High Very High
Disease 73 88.00 High High
Arrhythmias 2 Under Development 99 86.52 High High
Spinocerebellar Ataxia Type 2 5 82.08 Quite High
Neurological Disease 1 72.68 Quite High
Heart Disease 48 72.60 Quite High
Frailty 67 64.32 Quite High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
Activation of MBNL1 during muscle differentiation stages brings about the exclusion of fetal exons from multiple RNA transcripts leading to their adult encoding isoforms [82, 83].
Positive_regulation (Activation) of MBNL1 in muscle
1) Confidence 0.54 Published 2008 Journal Current Genomics Section Body Doc Link PMC2694559 Disease Relevance 0.19 Pain Relevance 0
Here, we present three lines of evidence that RNA gain-of-function plays a significant role in SCA8: 1) CUGexp transcripts accumulate as ribonuclear inclusions that co-localize with MBNL1 in selected neurons in the brain; 2) loss of Mbnl1 enhances motor deficits in SCA8 mice; 3) SCA8 CUGexp transcripts trigger splicing changes and increased expression of the CUGBP1-MBNL1 regulated CNS target, GABA-A transporter 4 (GAT4/Gabt4).
Positive_regulation (enhances) of Mbnl1 in brain associated with gaba
2) Confidence 0.50 Published 2009 Journal PLoS Genetics Section Abstract Doc Link PMC2719092 Disease Relevance 0.23 Pain Relevance 0.13
Nonetheless, MBNL1 inactivation must be a key event in DM1 myoblasts as over expression of MBNL1 is sufficient to rescue the splice defects in these cells [46], [47].
Positive_regulation (inactivation) of MBNL1 in myoblasts
3) Confidence 0.47 Published 2008 Journal PLoS ONE Section Body Doc Link PMC2597774 Disease Relevance 0 Pain Relevance 0
These results demonstrate that (i) CTG tracts expressed in a context independent manner can elicit elevated Cug-bp1 levels, (ii) a two fold elevation of Cug-bp1 levels is insufficient to dysregulate splice site choice in the adult mouse heart and (iii) aggregation of Mbnl1 in CUG foci per se may not be sufficient to inactivate Mbnl1.
Positive_regulation (inactivate) of Mbnl1 in heart
4) Confidence 0.47 Published 2008 Journal PLoS ONE Section Body Doc Link PMC2597774 Disease Relevance 0.25 Pain Relevance 0.09
These data therefore demonstrate first, that functional inactivation of MBNL1 is sufficient to produce DM1 pathophysiology.
Positive_regulation (inactivation) of MBNL1
5) Confidence 0.47 Published 2008 Journal PLoS ONE Section Body Doc Link PMC2597774 Disease Relevance 0.34 Pain Relevance 0
Second, as MBNL1 mediated rescue serves to correct key features of DM1, inactivation of MBNL1 must be a necessary event that is required for the development of DM1 pathophysiology.
Positive_regulation (inactivation) of MBNL1
6) Confidence 0.47 Published 2008 Journal PLoS ONE Section Body Doc Link PMC2597774 Disease Relevance 0.32 Pain Relevance 0
As previous studies have shown marked sequestration of MBNL1 in CUG foci both in skeletal muscle and heart cells (35,36), it has been hypothesized that MBNL1 depletion occurring as a consequence of aberrant sequestration, is a key mechanism that underlies the functional inactivation of MBNL1 in DM1.
Positive_regulation (inactivation) of MBNL1 in heart
7) Confidence 0.47 Published 2008 Journal PLoS ONE Section Body Doc Link PMC2597774 Disease Relevance 0.21 Pain Relevance 0
50% decrease in Mbnl1 is insufficient to alter splice site choice [32], these data demonstrate that aggregation per se cannot be the sole mechanism that underlies MBNL1 inactivation in DM1 cells.
Positive_regulation (inactivation) of MBNL1
8) Confidence 0.47 Published 2008 Journal PLoS ONE Section Body Doc Link PMC2597774 Disease Relevance 0 Pain Relevance 0
The percentage of MBNL1 present in the nucleus and cytoplasm of cardiomyocytes derived from ?
Positive_regulation (percentage) of MBNL1 in cardiomyocytes
9) Confidence 0.47 Published 2008 Journal PLoS ONE Section Body Doc Link PMC2597774 Disease Relevance 0.05 Pain Relevance 0
Inactivation of MBNL1 plays an important role in etiology of DM1 spliceopathy.
Positive_regulation (Inactivation) of MBNL1
10) Confidence 0.47 Published 2008 Journal PLoS ONE Section Body Doc Link PMC2597774 Disease Relevance 0.31 Pain Relevance 0
The molecular basis of MBNL1 inactivation in DM1 myoblasts is currently unclear and is an important area of future investigation.
Positive_regulation (inactivation) of MBNL1 in myoblasts
11) Confidence 0.47 Published 2008 Journal PLoS ONE Section Body Doc Link PMC2597774 Disease Relevance 0 Pain Relevance 0
Abnormal splicing results from the functional inactivation of MBNL1, which is hypothesized to occur due to MBNL1 sequestration in CUG foci or from elevated levels of CUG-BP1.
Positive_regulation (inactivation) of MBNL1
12) Confidence 0.47 Published 2008 Journal PLoS ONE Section Abstract Doc Link PMC2597774 Disease Relevance 0.20 Pain Relevance 0.05
Thus as expression of LacZ-(CUG)400 RNAs is not sufficient to dysregulate RNA splicing, these RNAs must also by inference be unable to inactivate Mbnl1 function in vivo.
Neg (unable) Positive_regulation (inactivate) of Mbnl1
13) Confidence 0.47 Published 2008 Journal PLoS ONE Section Body Doc Link PMC2597774 Disease Relevance 0 Pain Relevance 0
However, transgenic mice overexpressing CUGBP1 developed splicing abnormalities suggesting that misregulation of splicing of CUGBP1 targets in vivo is independent of MBNL1 [68].
Neg (independent) Positive_regulation (independent) of MBNL1 associated with targeted disruption and congenital anomalies
14) Confidence 0.30 Published 2010 Journal Current Genomics Section Body Doc Link PMC2874224 Disease Relevance 0.29 Pain Relevance 0
As previous studies have shown marked sequestration of MBNL1 in CUG foci both in skeletal muscle and heart cells (35,36), it has been hypothesized that MBNL1 depletion occurring as a consequence of aberrant sequestration, is a key mechanism that underlies the functional inactivation of MBNL1 in DM1.
Positive_regulation (inactivation) of MBNL1 in skeletal muscle
15) Confidence 0.16 Published 2008 Journal PLoS ONE Section Body Doc Link PMC2597774 Disease Relevance 0.21 Pain Relevance 0

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