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Title: SPTLC1 is mutated in hereditary sensory neuropathy, type 1
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Nature Genetics [1061-4036] Bejaoui, Khemissa yr:2001


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1. Dawkins, Jennifer L. "Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I." Nature genetics 27.3 (2001): 309-312. Link to Full Text for this item Link to SFX for this item
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5. Bejaoui, K. "Hereditary sensory neuropathy type 1 mutations confer dominant negative effects on serine palmitoyltransferase, critical for sphingolipid synthesis." The journal of clinical investigation 110.9 (2002): 1301-1308. Link to Full Text for this item Link to SFX for this item
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14. Dedov, Vadim N. "Activity of partially inhibited serine palmitoyltransferase is sufficient for normal sphingolipid metabolism and viability of HSN1 patient cells." Biochimica et biophysica acta. Molecular basis of disease 1688.2 (2004): 168-175. Link to SFX for this item
15. Trindade, V M T. "Undernutrition decreases serine palmitoyltransferase activity in developing rat hypothalamus." Annals of Nutrition & Metabolism 43.3 (1999): 152-. Link to SFX for this item
16. Gable, Gongshe n. "Mutations in the yeast LCB1 and LCB2 genes, including those corresponding to the hereditary sensory neuropathy type I mutations, dominantly inactivate serine palmitoyltransferase." The Journal of biological chemistry 277.12 (2002): 10194-10200. Link to SFX for this item
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