INT322931

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Context Info
Confidence 0.00
First Reported 2010
Last Reported 2010
Negated 0
Speculated 0
Reported most in Body
Documents 1
Total Number 1
Disease Relevance 0.82
Pain Relevance 0

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

cytosol (MOCS1) signal transduction (Litaf) small molecule metabolic process (MOCS1)
Golgi apparatus (Litaf) nucleus (MOCS1) lysosome (Litaf)
Anatomy Link Frequency
fibroblasts 1
MOCS1 (Homo sapiens)
Litaf (Mus musculus)
Pain Link Frequency Relevance Heat
peripheral neuropathy 1 7.00 Low Low
Inflammation 6 5.00 Very Low Very Low Very Low
Central nervous system 5 5.00 Very Low Very Low Very Low
cytokine 2 5.00 Very Low Very Low Very Low
Pain 2 5.00 Very Low Very Low Very Low
palliative 1 5.00 Very Low Very Low Very Low
Potency 1 5.00 Very Low Very Low Very Low
Calcium channel 1 5.00 Very Low Very Low Very Low
antagonist 1 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Gauchers Disease 68 100.00 Very High Very High Very High
Disease 15 100.00 Very High Very High Very High
Lysosome Storage Disease 1 100.00 Very High Very High Very High
Parkinson's Disease 8 83.00 Quite High
Death 1 77.20 Quite High
Neurodegenerative Disease 2 72.56 Quite High
Proteostasis Deficiencies 1 43.84 Quite Low
Neurologic Manifestations 2 33.76 Quite Low
Peripheral Neuropathy 1 7.00 Low Low
Tremor 1 5.96 Low Low

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
EET has been proposed for a number of lysosomal storage disorders, including GD, Sandhoff, Fabry, and Tay-Sachs diseases.68,69 The mechanism of action for these compounds is competitive binding to the active site of the mutant enzyme, facilitating proper folding and trafficking to the lysosome, where endogenous substrate displaces the chaperone and enzyme activity is restored.70 Most chaperones studied to date are enzyme inhibitors in the structural class of imino sugars or similar analogs of the natural substrate, glucosylceramide.71 Imino sugars have been shown to increase the cellular activity of the N370S mutant form of GC, as well as the wild-type enzyme.72 In cell based systems, where fibroblasts from patients are cultured with the chemical chaperone N-nonyl-deoxynojirimycin, the enzymatic activity of the GC variant, N370S, is increased.
enzyme Binding (binding) of EET in fibroblasts associated with gauchers disease, disease and lysosome storage disease
1) Confidence 0.00 Published 2010 Journal Therapeutics and Clinical Risk Management Section Body Doc Link PMC2909498 Disease Relevance 0.82 Pain Relevance 0

General Comments

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