INT72870

Context Info Confidence 0.57 First Reported 1997 Last Reported 2008 Negated 0 Speculated 0 Reported most in Abstract Documents 7 Total Number 7 Disease Relevance 1.82 Pain Relevance 1.73

mitochondrion (SPTLC2) small molecule metabolic process (SPTLC2) endoplasmic reticulum (SPTLC2) biosynthetic process (SPTLC2) transferase activity, transferring acyl groups (SPTLC2)

Anatomy Link Frequency C16 1 lymphoblasts 1 SPTLC2 (Homo sapiens)

Pain Link Frequency Relevance Heat Hsan 106 99.40 Opioid 6 94.28 Pain 6 88.48 Morphine 1 82.16 addiction 4 75.00 opioid receptor 1 61.24 imagery 2 5.00 unmyelinated 2 5.00 Spinal cord 1 5.00 lancinating pain 1 5.00

Disease Link Frequency Relevance Heat Hereditary Sensory And Autonomic Neuropathies 113 99.40 Muscle Weakness 7 97.52 Pain 7 88.48 Repression 1 77.84 Opiate Addiction 3 75.00 Drug Dependence 1 68.52 Carcinoma 1 63.32 Peripheral Neuropathy 1 57.16 Death 1 46.32 Apoptosis 1 45.76

Sentences Mentioned In

Key:

Protein

Mutation

Event

Anatomy

Negation

Speculation

Pain term

Disease term

However, more recent studies showed that both mutations reduce the normal serine palmitoyltransferase activity in various mammalian cell types, including cultured lymphoblasts from HSN1 patients indicating that SPTLC1 mutations are dominant inactivating [23,24].

Negative_regulation (reduce) of serine palmitoyltransferase in lymphoblasts

1) Confidence 0.57 Published 2008 Journal Orphanet J Rare Dis Section Body Doc Link PMC2311280 Disease Relevance 0.38 Pain Relevance 0.25

Carnitine palmitoyltransferase-II deficiency was suspected based on the determination of serum acylcarnitines by tandem mass spectrometry which showed a characteristic elevation of long-chain C16 and C18:1 acylcarnitines.

Negative_regulation (deficiency) of palmitoyltransferase-II in C16

2) Confidence 0.25 Published 2001 Journal Eur. J. Pediatr. Section Abstract Doc Link 11585077 Disease Relevance 0.18 Pain Relevance 0.09

CONCLUSION: Carnitine palmitoyltransferase-II deficiency should be included in the differential diagnosis of isolated muscular weakness even when manifesting in early childhood.

Negative_regulation (deficiency) of palmitoyltransferase-II associated with muscle weakness

3) Confidence 0.25 Published 2001 Journal Eur. J. Pediatr. Section Abstract Doc Link 11585077 Disease Relevance 0.24 Pain Relevance 0.07

Moreover, both chemical depalmitoylation by hydroxylamine and inhibition of palmitoyl-CoA transferase in vivo by tunicamycin treatment incresed the reconstitutive activity of detergent extracts and eliminated the differences between native and opioid-dependent cells, indicating that the increase in stimulatory activity is due to depalmitoylation of Gs alpha.

Negative_regulation (inhibition) of palmitoyl-CoA transferase associated with opioid

4) Confidence 0.23 Published 1997 Journal Mol. Pharmacol. Section Abstract Doc Link 9415709 Disease Relevance 0.26 Pain Relevance 0.56

These mutations are dominant and decrease serine palmitoyltransferase activity by 50% when the wild-type and mutant LCB1 alleles are coexpressed.

Negative_regulation (decrease) of serine palmitoyltransferase

5) Confidence 0.08 Published 2002 Journal J. Biol. Chem. Section Abstract Doc Link 11781309 Disease Relevance 0.24 Pain Relevance 0.24

Mutations in the yeast LCB1 and LCB2 genes, including those corresponding to the hereditary sensory neuropathy type I mutations, dominantly inactivate serine palmitoyltransferase.

Negative_regulation (inactivate) of serine palmitoyltransferase associated with hsan

6) Confidence 0.06 Published 2002 Journal J. Biol. Chem. Section Title Doc Link 11781309 Disease Relevance 0.28 Pain Relevance 0.28

We found that the corresponding mutations in the LCB1 gene of Saccharomyces cerevisiae reduce serine palmitoyltransferase activity.

Negative_regulation (reduce) of serine palmitoyltransferase

7) Confidence 0.05 Published 2002 Journal J. Biol. Chem. Section Abstract Doc Link 11781309 Disease Relevance 0.24 Pain Relevance 0.24

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