INT303326

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Context Info
Confidence 0.75
First Reported 2010
Last Reported 2010
Negated 1
Speculated 1
Reported most in Body
Documents 25
Total Number 26
Disease Relevance 10.08
Pain Relevance 0.76

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

cytosol (CHMP2B) endosome (CHMP2B) mitochondrion (CHMP2B)
nucleus (CHMP2B) intracellular (CHMP2B) cytoplasm (CHMP2B)
Anatomy Link Frequency
Neuron 3
HeLa 2
brain 1
vesicles 1
motor neurons 1
CHMP2B (Homo sapiens)
Pain Link Frequency Relevance Heat
Spinal cord 175 97.20 Very High Very High Very High
Hippocampus 50 95.40 Very High Very High Very High
midbrain 50 94.72 High High
medulla 100 90.80 High High
withdrawal 50 90.12 High High
Kinase C 25 53.64 Quite High
backache 25 29.00 Quite Low
cytokine 25 24.28 Low Low
carbamazepine 1 5.00 Very Low Very Low Very Low
Clonidine 1 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Dementia 376 100.00 Very High Very High Very High
Motor Neuron Diseases 1554 99.68 Very High Very High Very High
Frontotemporal Dementia 53 99.52 Very High Very High Very High
Death 79 99.32 Very High Very High Very High
Repression 75 99.32 Very High Very High Very High
Neuroblastoma 25 99.00 Very High Very High Very High
Disease 340 95.20 Very High Very High Very High
Neurodegenerative Disease 216 94.40 High High
Dysphagia 25 85.20 High High
Dysarthria 50 84.76 Quite High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
Depletion of ESCRT-III or overexpression of Vps2b mutant proteins in cortical neurons presents with a similar phenotype [52].
Gene_expression (overexpression) of Vps2b in neurons
1) Confidence 0.75 Published 2010 Journal Seminars in Cell & Developmental Biology Section Body Doc Link PMC2938570 Disease Relevance 0.63 Pain Relevance 0
The small vacuoles found in cells expressing WT CHMP2B co-localised with large areas of CD63 staining – displaying the normal physiological fusion of late endosomes with lysosomes (Figure 6 F–H).
Gene_expression (expressing) of CHMP2B
2) Confidence 0.68 Published 2010 Journal PLoS ONE Section Body Doc Link PMC2844426 Disease Relevance 0.18 Pain Relevance 0
In cells expressing WT CHMP2B, CD63 co-localises with small vacuoles within the cytoplasm (Figure 6F–H).
Gene_expression (expressing) of CHMP2B
3) Confidence 0.68 Published 2010 Journal PLoS ONE Section Body Doc Link PMC2844426 Disease Relevance 0 Pain Relevance 0.04
CHMP2B is expressed in all major areas of the human brain, as well as multiple other tissues outside the CNS.
Gene_expression (expressed) of CHMP2B in brain
4) Confidence 0.68 Published 2010 Journal PLoS ONE Section Body Doc Link PMC2844426 Disease Relevance 1.15 Pain Relevance 0.07
The number of cells with halos in cells expressing the p.T104N isoform of CHMP2B was significantly increased (Bonferroni post-test, p<0.05).
Gene_expression (expressing) of CHMP2B
5) Confidence 0.68 Published 2010 Journal PLoS ONE Section Body Doc Link PMC2844426 Disease Relevance 0 Pain Relevance 0.05
Image analysis showed there were significantly more vacuoles with an area greater than 1µm2 in cells expressing mutant CHMP2B protein compared to wild-type (one way ANOVA: p<0.0001, Figure 7).
Gene_expression (expressing) of CHMP2B
6) Confidence 0.68 Published 2010 Journal PLoS ONE Section Body Doc Link PMC2844426 Disease Relevance 0 Pain Relevance 0.04
In cells expressing mutant CHMP2B, CD63 does not co-localise with the large cytoplasmic vacuoles caused by mutant CHMP2B transfection, but instead is found on the membrane of these aberrant structures (Figure 6 I–K).
Gene_expression (expressing) of CHMP2B
7) Confidence 0.68 Published 2010 Journal PLoS ONE Section Body Doc Link PMC2844426 Disease Relevance 0 Pain Relevance 0.04
Additionally, there is strong evidence that CHMP2B mutations result in neuronal death; dendritic retraction and cell death seen in cortical neuron cultures transfected with CHMP2BIntron5 is a result of the failure of the aberrant protein to dissociate from the other subunits of the ESCRTIII prior to the next round of sorting, a step critical for the formation of MVBs [12].
Gene_expression (transfected) of CHMP2BIntron5 in neuron associated with death
8) Confidence 0.59 Published 2010 Journal PLoS ONE Section Body Doc Link PMC2844426 Disease Relevance 0.34 Pain Relevance 0
In contrast, cells expressing mutant CHMP2B often showed CD63 immunostaining on the membranes of large vacuoles (Figure 6 I–K).
Gene_expression (expressing) of CHMP2B
9) Confidence 0.59 Published 2010 Journal PLoS ONE Section Body Doc Link PMC2844426 Disease Relevance 0.20 Pain Relevance 0
Transfection of HeLa cells with CHMP2BIntron5 and CHMP2B?
Gene_expression (Transfection) of CHMP2BIntron5 in HeLa
10) Confidence 0.59 Published 2010 Journal PLoS ONE Section Body Doc Link PMC2844426 Disease Relevance 0.30 Pain Relevance 0
Co-staining with CD63, a tetraspanin that is abundant in late endosomes and lysosomes, revealed an interesting change in staining pattern in cells expressing mutant CHMP2B.
Gene_expression (expressing) of CHMP2B
11) Confidence 0.59 Published 2010 Journal PLoS ONE Section Body Doc Link PMC2844426 Disease Relevance 0 Pain Relevance 0.04
In the present study, we have demonstrated that LC3-II levels are significantly increased in cells expressing mutant CHMP2B.
Gene_expression (expressing) of CHMP2B
12) Confidence 0.59 Published 2010 Journal PLoS ONE Section Body Doc Link PMC2844426 Disease Relevance 0.20 Pain Relevance 0
In cells expressing mutant CHMP2B, CD63 does not co-localise with the large cytoplasmic vacuoles caused by mutant CHMP2B transfection, but instead is found on the membrane of these aberrant structures (Figure 6 I–K).
Gene_expression (transfection) of CHMP2B
13) Confidence 0.59 Published 2010 Journal PLoS ONE Section Body Doc Link PMC2844426 Disease Relevance 0 Pain Relevance 0.03
Cells expressing mutant CHMP2B isoforms had large cytoplasmic vacuoles that were devoid of lumenal staining for the recombinant protein, such vacuoles were rarely seen in cells expressing wild-type protein (Figure 6B–D).
Gene_expression (expressing) of CHMP2B
14) Confidence 0.59 Published 2010 Journal PLoS ONE Section Body Doc Link PMC2844426 Disease Relevance 0 Pain Relevance 0.03
Transfection of HeLa cells with CHMP2BIntron5 and CHMP2B?
Gene_expression (Transfection) of CHMP2B in HeLa
15) Confidence 0.59 Published 2010 Journal PLoS ONE Section Body Doc Link PMC2844426 Disease Relevance 0.30 Pain Relevance 0
In vitro models to investigate the functional effects of CHMP2B mutations
Spec (investigate) Gene_expression (mutations) of CHMP2B
16) Confidence 0.59 Published 2010 Journal PLoS ONE Section Body Doc Link PMC2844426 Disease Relevance 0.07 Pain Relevance 0
Transfection of mutant CHMP2B into HEK-293 and COS-7 cells resulted in the formation of large cytoplasmic vacuoles, aberrant lysosomal localisation demonstrated by CD63 staining and impairment of autophagy indicated by increased levels of LC3-II protein.
Gene_expression (Transfection) of CHMP2B
17) Confidence 0.52 Published 2010 Journal PLoS ONE Section Abstract Doc Link PMC2844426 Disease Relevance 1.05 Pain Relevance 0
This hypothesis is further supported by the transfection of FTD-related CHMP2B truncating mutations in neuroblastoma cell lines, which led to the formation of large vesicles, with a morphology in keeping with aberrant endosomes [52].
Gene_expression (transfection) of CHMP2B in vesicles associated with neuroblastoma and dementia
18) Confidence 0.52 Published 2010 Journal PLoS ONE Section Body Doc Link PMC2844426 Disease Relevance 0.25 Pain Relevance 0
Cellular pathology of CHMP2B mutations
Gene_expression (mutations) of CHMP2B
19) Confidence 0.51 Published 2010 Journal PLoS ONE Section Body Doc Link PMC2844426 Disease Relevance 0 Pain Relevance 0.03
Microarray analysis of cervical motor neurons from CHMP2B cases vs. controls
Gene_expression (cases) of CHMP2B in motor neurons
20) Confidence 0.51 Published 2010 Journal PLoS ONE Section Body Doc Link PMC2844426 Disease Relevance 0 Pain Relevance 0.38

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