Publication: Novel HSAN1 mutation in serine palmitoyltransferase resides at a putative phosphorylation site that is involved in regulating substrate specificity
Novel HSAN1 mutation in serine palmitoyltransferase resides at a putative phosphorylation site that is involved in regulating substrate specificity
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Ernst, D., Murphy, S. M., Sathiyanadan, K., Wei, Y., Othman, A., Laurá, M., Liu, Y.-T., Penno, A., Blake, J., Donaghy, M., Houlden, H., Reilly, M. M., & Hornemann, T. (2015). Novel HSAN1 mutation in serine palmitoyltransferase resides at a putative phosphorylation site that is involved in regulating substrate specificity. Neuromolecular Medicine, 17(1), 47–57. https://doi.org/10.1007/s12017-014-8339-1
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1-Deoxysphingolipids (1-deoxySL) are atypical sphingolipids that are formed by the enzyme serine palmitoyltransferase (SPT) due to a promiscuous use of L-alanine over its canonical substrate L-serine. Several mutations in SPT are associated with the hereditary sensory and autonomic neuropathy type I (HSAN1). The current hypothesis is that these mutations induce a permanent shift in the affinity from L-serine toward L-alanine which results in a pathologically increased 1-deoxySL formation in HSAN1 patients. Also, wild-type SPT forms 1-
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- Ernst, Daniela
- Murphy, Sinéad M
- Sathiyanadan, Karthik
- Wei, Yu
- Othman, Alaa
- Laurá, Matilde
- Liu, Yo-Tsen
- Penno, Anke
- Blake, Julian
- Donaghy, Michael
- Houlden, Henry
- Reilly, Mary M
- Hornemann, Thorsten
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Ernst, D., Murphy, S. M., Sathiyanadan, K., Wei, Y., Othman, A., Laurá, M., Liu, Y.-T., Penno, A., Blake, J., Donaghy, M., Houlden, H., Reilly, M. M., & Hornemann, T. (2015). Novel HSAN1 mutation in serine palmitoyltransferase resides at a putative phosphorylation site that is involved in regulating substrate specificity. Neuromolecular Medicine, 17(1), 47–57. https://doi.org/10.1007/s12017-014-8339-1
