INT3322

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Context Info
Confidence 0.43
First Reported 1978
Last Reported 2010
Negated 0
Speculated 0
Reported most in Body
Documents 4
Total Number 6
Disease Relevance 3.25
Pain Relevance 0

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mitochondrion (ALAS2) small molecule metabolic process (ALAS2) biosynthetic process (ALAS2)
transferase activity, transferring acyl groups (ALAS2)
Anatomy Link Frequency
tubes 2
ALAS2 (Homo sapiens)
Pain Link Frequency Relevance Heat
Clonidine 1 48.96 Quite Low
Pain 12 37.32 Quite Low
Glutamate 3 9.16 Low Low
Disease Link Frequency Relevance Heat
Porphyria 17 100.00 Very High Very High Very High
Sideroblastic Anemia 45 99.98 Very High Very High Very High
Stress 14 99.52 Very High Very High Very High
Disease 81 99.30 Very High Very High Very High
Iron Overload 72 98.20 Very High Very High Very High
Starvation 12 97.36 Very High Very High Very High
Anaemia 54 96.92 Very High Very High Very High
Death 26 96.80 Very High Very High Very High
Hepatic Porphyrias 2 96.68 Very High Very High Very High
Repression 6 95.00 High High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
The GLRX5 knockdown activates IRPs and thereby decreases the level of ALAS2 expression and interrupts heme biosynthesis, but activated IRPs cannot repress FPN1b expression, which is induced during the stress response to mitochondrial iron overload and worsens cytosolic iron deficiency in eythroid cells (Figure 3).
Positive_regulation (induced) of Gene_expression (expression) of ALAS2 associated with stress, anaemia, porphyria and iron overload
1) Confidence 0.43 Published 2010 Journal Biochemistry Section Body Doc Link PMC2885827 Disease Relevance 1.13 Pain Relevance 0
sulfur cluster biogenesis; it also occurs in other diseases, such as the sideroblastic anemia caused by ALAS2 mutations, even though ALAS2 mediates the first condensation of heme biosynthesis and is not directly involved in Fe?
Positive_regulation (caused) of Gene_expression (mutations) of ALAS2 associated with porphyria, sideroblastic anemia and disease
2) Confidence 0.38 Published 2010 Journal Biochemistry Section Body Doc Link PMC2885827 Disease Relevance 0.66 Pain Relevance 0
On the basis of the fact that mutations of SLC25A38, SLC19A2, ABCB7, and heme synthetic ALAS2 all cause a similar sideroblastic anemia phenotype (80) and the prediction that SLC25A38 may provide the glycine substrate of heme biosynthesis and SLC19A2 may provide thiamine for pyruvate dehydrogenase, it is possible that ABCB7 exports a heme or heme precursor molecule to the cytosol that conveys a signal about mitochondrial iron status to the cytosolic/nuclear compartment.
Positive_regulation (cause) of Gene_expression (synthetic) of ALAS2 associated with porphyria and sideroblastic anemia
3) Confidence 0.38 Published 2010 Journal Biochemistry Section Body Doc Link PMC2885827 Disease Relevance 0.48 Pain Relevance 0
This simple method should facilitate screening for those drugs which induce the synthesis of delta-aminolevulinate synthase and/or cytochrome P-450 and are potentially dangerous to patients with hereditary hepatic porphyria.
Positive_regulation (induce) of Gene_expression (synthesis) of delta-aminolevulinate synthase associated with hepatic porphyrias
4) Confidence 0.37 Published 1978 Journal Biochim. Biophys. Acta Section Abstract Doc Link 708789 Disease Relevance 0.32 Pain Relevance 0
Choosing PEG tubes as the method to deliver ANH was partly attributed to reimbursement issues.
Positive_regulation (deliver) of Gene_expression (deliver) of ANH in tubes
5) Confidence 0.04 Published 2007 Journal BMC Geriatr Section Body Doc Link PMC1997114 Disease Relevance 0 Pain Relevance 0
Most informants stated that they believe that the provision of ANH is inherently necessary for anyone who cannot take food and fluids orally.
Positive_regulation (necessary) of Gene_expression (provision) of ANH
6) Confidence 0.04 Published 2007 Journal BMC Geriatr Section Body Doc Link PMC1997114 Disease Relevance 0.66 Pain Relevance 0

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