INT237345

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Context Info
Confidence 0.69
First Reported 2008
Last Reported 2008
Negated 0
Speculated 0
Reported most in Body
Documents 1
Total Number 17
Disease Relevance 3.03
Pain Relevance 0.08

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

phosphatase activity (Mtm1) endosome (Mtm1) transport (Mtm1)
plasma membrane (Mtm1) cytoplasm (Mtm1)
Anatomy Link Frequency
muscle 10
skeletal muscle 10
plasma 4
muscle fibers 4
Mtm1 (Mus musculus)
Pain Link Frequency Relevance Heat
Inflammation 34 98.38 Very High Very High Very High
Sciatic nerve 17 37.36 Quite Low
ketamine 17 5.00 Very Low Very Low Very Low
anesthesia 17 5.00 Very Low Very Low Very Low
sodium channel 17 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Congenital Anomalies 17 99.76 Very High Very High Very High
Congenital Structural Myopathies 289 99.24 Very High Very High Very High
INFLAMMATION 34 98.38 Very High Very High Very High
Cytomegalovirus Infection 221 96.56 Very High Very High Very High
Disease 85 93.04 High High
Adhesions 17 83.36 Quite High
Muscle Weakness 68 68.80 Quite High
Muscle Disease 85 64.00 Quite High
Frailty 34 63.68 Quite High
Muscular Dystrophy 17 45.28 Quite Low

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
However, development of the new r1947 antibody, together with the use of AAV-mediated transduction to overexpress myotubularin, permitted us to demonstrate that it preferentially localizes to the triadic region, and perhaps also to the sarcolemma.
Positive_regulation (overexpress) of Gene_expression (overexpress) of myotubularin
1) Confidence 0.69 Published 2008 Journal Human Molecular Genetics Section Body Doc Link PMC2441725 Disease Relevance 0.20 Pain Relevance 0.03
In addition, we used this AAV vector to overexpress myotubularin in wild-type skeletal muscle and get insight into its localization and function.
Positive_regulation (overexpress) of Gene_expression (overexpress) of myotubularin in skeletal muscle
2) Confidence 0.69 Published 2008 Journal Human Molecular Genetics Section Abstract Doc Link PMC2441725 Disease Relevance 0.28 Pain Relevance 0
Myotubularin overexpression in muscle induces the accumulation of packed membrane saccules and presence of vacuoles that contain markers of sarcolemma and T-tubules, suggesting that myotubularin is involved in plasma membrane homeostasis of myofibers.
Positive_regulation (overexpression) of Gene_expression (overexpression) of Myotubularin in plasma
3) Confidence 0.69 Published 2008 Journal Human Molecular Genetics Section Abstract Doc Link PMC2441725 Disease Relevance 0.25 Pain Relevance 0
These results suggest that overexpressed myotubularin has a similar distribution than the endogenous protein within muscle fibers and validate the use of AAV-mediated overexpression for functional studies.


Positive_regulation (overexpressed) of Gene_expression (overexpressed) of myotubularin in muscle fibers
4) Confidence 0.69 Published 2008 Journal Human Molecular Genetics Section Body Doc Link PMC2441725 Disease Relevance 0.07 Pain Relevance 0
Thus, it may be possible that excessive caveolae formation upon myotubularin overexpression contributes to the formation of these membrane structures.
Positive_regulation (overexpression) of Gene_expression (overexpression) of myotubularin
5) Confidence 0.69 Published 2008 Journal Human Molecular Genetics Section Body Doc Link PMC2441725 Disease Relevance 0.18 Pain Relevance 0
Subcellular fractionation studies provided further confirmation that the localization of overexpressed myotubularin in muscle likely corresponds to that of the endogenous protein as they revealed a similar pattern of distribution.
Positive_regulation (overexpressed) of Gene_expression (overexpressed) of myotubularin in muscle
6) Confidence 0.69 Published 2008 Journal Human Molecular Genetics Section Body Doc Link PMC2441725 Disease Relevance 0 Pain Relevance 0
Overexpressed myotubularin, like the endogenous one, is present as a doublet in skeletal muscle by western blot (Fig. 5D), indicating that these isoforms result from post-translational modification of the protein rather than alternative splicing of the Mtm1 gene.
Positive_regulation (Overexpressed) of Gene_expression (Overexpressed) of myotubularin in skeletal muscle
7) Confidence 0.69 Published 2008 Journal Human Molecular Genetics Section Body Doc Link PMC2441725 Disease Relevance 0.07 Pain Relevance 0
Overexpressed myotubularin induces a plasma membrane pathology in skeletal muscle
Positive_regulation (Overexpressed) of Gene_expression (Overexpressed) of myotubularin in plasma
8) Confidence 0.60 Published 2008 Journal Human Molecular Genetics Section Body Doc Link PMC2441725 Disease Relevance 0.08 Pain Relevance 0
We also compared the distribution of endogenous and overexpressed myotubularin in skeletal muscle by subcellular fractionation.
Positive_regulation (overexpressed) of Gene_expression (overexpressed) of myotubularin in skeletal muscle
9) Confidence 0.60 Published 2008 Journal Human Molecular Genetics Section Body Doc Link PMC2441725 Disease Relevance 0.06 Pain Relevance 0
These results suggest that overexpressed myotubularin has a similar distribution than the endogenous protein within muscle fibers and validate the use of AAV-mediated overexpression for functional studies.


Positive_regulation (overexpressed) of Gene_expression (overexpressed) of myotubularin in muscle fibers
10) Confidence 0.50 Published 2008 Journal Human Molecular Genetics Section Body Doc Link PMC2441725 Disease Relevance 0.07 Pain Relevance 0
Importantly, viral-mediated myotubularin expression led to the correction of EDL and TA muscle-specific forces in mutant mice, reaching a level similar to WT animals (Fig. 4B).
Positive_regulation (mediated) of Gene_expression (expression) of myotubularin in muscle
11) Confidence 0.50 Published 2008 Journal Human Molecular Genetics Section Body Doc Link PMC2441725 Disease Relevance 0.19 Pain Relevance 0
These pathological effects are specific for myotubularin overexpression as they were not observed when other rAAV2/1 vectors, containing either murine secreted alkaline phosphatase or green-fluorescence protein cDNAs under the same CMV (cytomegalovirus) promoter, were injected into skeletal muscle (data not shown).
Positive_regulation (overexpression) of Gene_expression (overexpression) of myotubularin in skeletal muscle associated with cytomegalovirus infection
12) Confidence 0.46 Published 2008 Journal Human Molecular Genetics Section Body Doc Link PMC2441725 Disease Relevance 0.27 Pain Relevance 0
Furthermore, AAV-mediated expression of myotubularin in skeletal muscle can also be used for functional analysis.
Positive_regulation (mediated) of Gene_expression (expression) of myotubularin in skeletal muscle
13) Confidence 0.46 Published 2008 Journal Human Molecular Genetics Section Body Doc Link PMC2441725 Disease Relevance 0.19 Pain Relevance 0
The morphological abnormalities found upon myotubularin overexpression had no detectable effect on the contractile force of isolated muscles (data not shown).


Positive_regulation (overexpression) of Gene_expression (overexpression) of myotubularin in muscles associated with congenital anomalies
14) Confidence 0.46 Published 2008 Journal Human Molecular Genetics Section Body Doc Link PMC2441725 Disease Relevance 0.42 Pain Relevance 0
Figure 6A shows that myotubularin overexpression leads to the presence of vacuoles and needle-like structures in myofibers, as observed in semithin sections.
Positive_regulation (overexpression) of Gene_expression (overexpression) of myotubularin
15) Confidence 0.46 Published 2008 Journal Human Molecular Genetics Section Body Doc Link PMC2441725 Disease Relevance 0.27 Pain Relevance 0
Confocal microscopic examination of AAV transduced muscle overexpressing myotubularin revealed considerably stronger signal at the triads and specific localization at the sarcolemma as well.
Positive_regulation (overexpressing) of Gene_expression (overexpressing) of myotubularin in muscle
16) Confidence 0.44 Published 2008 Journal Human Molecular Genetics Section Body Doc Link PMC2441725 Disease Relevance 0.06 Pain Relevance 0
Occasional small foci of inflammatory infiltrates were observed in AAV-transduced mKO muscles, often nearby myofibers expressing high levels of myotubularin (Fig. 3C).
Positive_regulation (levels) of Gene_expression (expressing) of myotubularin in muscles associated with inflammation
17) Confidence 0.44 Published 2008 Journal Human Molecular Genetics Section Body Doc Link PMC2441725 Disease Relevance 0.36 Pain Relevance 0.05

General Comments

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