INT32509

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Context Info
Confidence 0.50
First Reported 1987
Last Reported 2010
Negated 1
Speculated 0
Reported most in Body
Documents 6
Total Number 7
Disease Relevance 2.24
Pain Relevance 0.33

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

endosome (Npc1) nuclear envelope (Npc1) Golgi apparatus (Npc1)
endoplasmic reticulum (Npc1) plasma membrane (Npc1) lysosome (Npc1)
Anatomy Link Frequency
plasma 1
paw 1
fibroblasts 1
Npc1 (Mus musculus)
Pain Link Frequency Relevance Heat
alcohol 1 80.80 Quite High
Thoracotomy 1 77.36 Quite High
Enkephalin 2 75.80 Quite High
Inflammation 4 75.00 Quite High
antidepressant 1 74.80 Quite High
Serotonin 1 53.84 Quite High
Catecholamine 2 42.92 Quite Low
cINOD 3 30.48 Quite Low
imagery 9 5.00 Very Low Very Low Very Low
Mexiletine 6 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Syndrome 131 99.72 Very High Very High Very High
Pressure And Volume Under Development 6 99.20 Very High Very High Very High
Ocular Toxicity (including Many Sub-types) 2 92.48 High High
Miosis 1 88.16 High High
Ganglion Cysts 1 86.00 High High
Toxicity 1 84.96 Quite High
Heart Rate Under Development 22 84.16 Quite High
Hemolysis 1 82.24 Quite High
Syncope 18 79.60 Quite High
Disease 268 78.48 Quite High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
Studies in patients and animal models have shown that both NPC2 and NPC1 are required for cholesterol egress from the lysosome.
Positive_regulation (required) of NPC1
1) Confidence 0.50 Published 2010 Journal Orphanet J Rare Dis Section Body Doc Link PMC2902432 Disease Relevance 0 Pain Relevance 0
A clinical diagnosis of NP-C requires in-depth screening for characteristic neurological (as well as systemic) features, and must be confirmed by laboratory biochemical and/or molecular genetic testing.1,3 The key laboratory diagnostic test for NP-C is filipin staining of cultured skin fibroblasts from the patient, to demonstrate free cholesterol accumulation in lysosomes secondary to impaired intracellular cholesterol transport.20 Evaluation of the rate of intracellular cholesterol esterification is a useful complementary test.20 Molecular genetic testing for NPC1 and NPC2 gene mutations is also vital to confirm diagnoses in patients with a variant biochemical phenotype, as well as to enable early and reliable prenatal diagnosis.20
Positive_regulation (mutations) of NPC1 in fibroblasts
2) Confidence 0.47 Published 2009 Journal Therapeutics and Clinical Risk Management Section Body Doc Link PMC2781062 Disease Relevance 0.67 Pain Relevance 0.04
Current data suggest that retrograde cholesterol movement from the plasma membrane to the ER does not require NPC1 [65] and implication of these proteins in cell processing of endogenously synthesized cholesterol [84] is still a matter of discussion.
Neg (not) Positive_regulation (require) of NPC1 in plasma
3) Confidence 0.43 Published 2010 Journal Orphanet J Rare Dis Section Body Doc Link PMC2902432 Disease Relevance 0 Pain Relevance 0
Taken together, this study suggests that further work needs to focus on increasing the transfection efficiency of the D-SPM.
Positive_regulation (increasing) of D-SPM
4) Confidence 0.24 Published 2010 Journal Journal of Biomedicine and Biotechnology Section Body Doc Link PMC2896664 Disease Relevance 0 Pain Relevance 0
Chronic ethanol also caused significant accumulation of the behaviorally active alpha- and gamma-type endorphins formed at the pSPM.
Positive_regulation (accumulation) of pSPM
5) Confidence 0.03 Published 1987 Journal Peptides Section Abstract Doc Link 2958786 Disease Relevance 0 Pain Relevance 0.19
The data published in 1991 [66] were updated in 2004 to include 147 LQTS patients who underwent LCSD during the last 35 years [65].
Positive_regulation (underwent) of LCSD associated with syndrome
6) Confidence 0.02 Published 2008 Journal Orphanet J Rare Dis Section Body Doc Link PMC2474834 Disease Relevance 1.02 Pain Relevance 0.04
The photoproducts, 8-MOP-Spm-P(GFC) obtained from the first band, but not the photoproducts with lower MW from the second band, showed enzyme activating action. 8-MOP-Spm-P(GFC) induced paw edema, which was stronger in the first phase than the second one in rats, differing from that induced by carrageenin.
Positive_regulation (activating) of Spm in paw associated with pressure and volume under development
7) Confidence 0.02 Published 1999 Journal Biol. Pharm. Bull. Section Abstract Doc Link 10598028 Disease Relevance 0.55 Pain Relevance 0.06

General Comments

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