INT255123

From wiki-pain
Jump to: navigation, search
Context Info
Confidence 0.80
First Reported 2008
Last Reported 2009
Negated 2
Speculated 0
Reported most in Body
Documents 7
Total Number 16
Disease Relevance 3.76
Pain Relevance 0.24

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
Purkinje cells 3
neurons 2
nucleus 2
cardiomyocytes 1
brain 1
Mbnl1 (Mus musculus)
Pain Link Frequency Relevance Heat
gABA 90 91.64 High High
imagery 100 79.20 Quite High
GABAergic 100 71.04 Quite High
interneuron 10 59.52 Quite High
tolerance 16 55.92 Quite High
medulla 10 42.76 Quite Low
anesthesia 20 5.00 Very Low Very Low Very Low
fibrosis 5 5.00 Very Low Very Low Very Low
Kinase C 2 5.00 Very Low Very Low Very Low
abdominal pain 1 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Frailty 228 94.88 High High
Cognitive Disorder 10 94.32 High High
Muscle Disease 26 93.28 High High
Hypopituitarism 36 91.56 High High
Targeted Disruption 298 91.52 High High
Disease 138 88.32 High High
Spinocerebellar Ataxia Type 2 50 84.68 Quite High
Cv Unclassified Under Development 6 76.00 Quite High
Neurological Disease 10 75.28 Quite High
Neuromuscular Disease 10 71.84 Quite High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
In human cerebellar sections, MBNL1 co-localizes with the CUG foci in molecular layer interneurons (Figure 1B).
Localization (localizes) of MBNL1 in interneurons
1) Confidence 0.80 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2719092 Disease Relevance 0.15 Pain Relevance 0.03
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).
Localization (localize) of MBNL1 in brain associated with gaba
2) Confidence 0.74 Published 2009 Journal PLoS Genetics Section Abstract Doc Link PMC2719092 Disease Relevance 0.23 Pain Relevance 0.12
In contrast, SCA8 and DM1 Purkinje cells have clearly detectable nuclear CUG foci but these foci do not co-localize with MBNL1, which is predominantly expressed in the cytoplasm (Figure 1B, middle and bottom row arrows).
Neg (not) Localization (localize) of MBNL1 in Purkinje cells
3) Confidence 0.74 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2719092 Disease Relevance 0.14 Pain Relevance 0
Similar to the human results, SCA8 mice expressing the expansion, but not the control repeat, have CUG-positive ribonuclear inclusions that co-localize with Mbnl1 in molecular layer interneurons and deep cerebellar nuclei (Figure 1C) but not in Purkinje cells (not shown).


Neg (not) Localization (localize) of Mbnl1 in Purkinje cells
4) Confidence 0.74 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2719092 Disease Relevance 0.13 Pain Relevance 0
DM1 CUGexp transcripts form ribonuclear inclusions that co-localize with MBNL1 in temporal lobe neurons of DM1 patients [22].
Localization (localize) of MBNL1 in neurons
5) Confidence 0.74 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2719092 Disease Relevance 0.91 Pain Relevance 0
FISH combined with immunofluorescence (IF) was performed to determine if the SCA8 ribonuclear inclusions co-localize with MBNL1.
Localization (localize) of MBNL1
6) Confidence 0.74 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2719092 Disease Relevance 0.16 Pain Relevance 0.03
-MHC-LacZ-(CTG)400 mice the percentage of MBNL1 in nucleus, cytoplasm and foci was calculated as: MBNL1nucleus?
Localization (percentage) of MBNL1 in nucleus
7) Confidence 0.70 Published 2008 Journal PLoS ONE Section Body Doc Link PMC2597774 Disease Relevance 0 Pain Relevance 0
Interestingly, although Purkinje cells had nuclear CUG foci in both DM1 and SCA8, co-localization with nuclear MBNL1 was not observed in these cells.
Localization (localization) of MBNL1 in Purkinje cells
8) Confidence 0.70 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2719092 Disease Relevance 0.36 Pain Relevance 0
First, we demonstrate CUGexp transcripts accumulate as ribonuclear inclusions in selected cells and that these RNA foci co-localize with Mbnl1 in a subset of neurons in SCA8 patients and mice.
Localization (local) of Mbnl1 in neurons
9) Confidence 0.70 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2719092 Disease Relevance 0.06 Pain Relevance 0.03
Because co-localization of MBNL1 with CUGexp ribonuclear inclusions is thought to lead to functional impairment of nuclear MBNL1 activity in DM1, we tested the hypothesis that RNA gain-of-function effects in SCA8 contribute to the motor deficits in SCA8 BAC-EXP mice via Mbnl1 depletion.
Localization (localization) of MBNL1
10) Confidence 0.70 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2719092 Disease Relevance 0.19 Pain Relevance 0
To estimate the amount of MBNL1 present in the nucleus, the cytoplasm and the foci, the fluorescence signals (area×intensity) were measured using IP Lab software (Scanalytics Inc., USA).
Localization (present) of MBNL1 in nucleus
11) Confidence 0.66 Published 2008 Journal PLoS ONE Section Body Doc Link PMC2597774 Disease Relevance 0.06 Pain Relevance 0
Similar, but relatively small amounts of endogenous MBNL1, localize both in nuclear CUG foci (?
Localization (localize) of MBNL1
12) Confidence 0.66 Published 2008 Journal PLoS ONE Section Body Doc Link PMC2597774 Disease Relevance 0.18 Pain Relevance 0
The percentage of MBNL1 present in the nucleus and cytoplasm of cardiomyocytes derived from ?
Localization (present) of MBNL1 in cardiomyocytes
13) Confidence 0.66 Published 2008 Journal PLoS ONE Section Body Doc Link PMC2597774 Disease Relevance 0.05 Pain Relevance 0
The Student t-test was used to analyze data derived from RNA splicing, expression analyses and the examination of MBNL1 cellular localization.
Localization (localization) of MBNL1
14) Confidence 0.66 Published 2008 Journal PLoS ONE Section Body Doc Link PMC2597774 Disease Relevance 0.08 Pain Relevance 0.03
In addition, CUGexp or CCUGexp transcripts accumulate as ribonuclear inclusions in DM1 and DM2 patient skeletal muscle [9]–[11] and alter the localization or regulation of RNA binding proteins CUGBP1 [12],[13] and MBNL1 [14],[15].
Localization (localization) of MBNL1 in skeletal muscle
15) Confidence 0.61 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2719092 Disease Relevance 1.01 Pain Relevance 0
Both CUG and CAG repeat expansions form ribonuclear foci that colocalize with MBNL1 in COSM6 cells, but only CUG repeats disrupt MBNL1-regulated splicing [84].
Localization (colocalize) of MBNL1
16) Confidence 0.58 Published 2008 Journal Current Genomics Section Body Doc Link PMC2694559 Disease Relevance 0.05 Pain Relevance 0

General Comments

This test has worked.

Personal tools
Namespaces

Variants
Actions
Navigation
Toolbox