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Novel HSAN1 Mutation in Serine Palmitoyltransferase Resides at a Putative Phosphorylation Site That Is Involved in Regulating Substrate Specificity
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...
সংরক্ষণ করুন:
| প্রকাশিত: | Neuromolecular Med |
|---|---|
| প্রধান লেখক: | , , , , , , , , , , , , |
| বিন্যাস: | Artigo |
| ভাষা: | Inglês |
| প্রকাশিত: |
Springer US
2015
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| বিষয়গুলি: | |
| অনলাইন ব্যবহার করুন: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4326654/ https://ncbi.nlm.nih.gov/pubmed/25567748 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12017-014-8339-1 |
| ট্যাগগুলো: |
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