{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,7]],"date-time":"2026-04-07T23:06:03Z","timestamp":1775603163167,"version":"3.50.1"},"reference-count":20,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2001,3,1]],"date-time":"2001-03-01T00:00:00Z","timestamp":983404800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nat Genet"],"published-print":{"date-parts":[[2001,3]]},"DOI":"10.1038\/85879","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T08:48:26Z","timestamp":1027673306000},"page":"309-312","source":"Crossref","is-referenced-by-count":372,"title":["Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I"],"prefix":"10.1038","volume":"27","author":[{"given":"Jennifer L.","family":"Dawkins","sequence":"first","affiliation":[]},{"given":"Dennis J.","family":"Hulme","sequence":"additional","affiliation":[]},{"given":"Sonal B.","family":"Brahmbhatt","sequence":"additional","affiliation":[]},{"given":"Michaela","family":"Auer-Grumbach","sequence":"additional","affiliation":[]},{"given":"Garth A.","family":"Nicholson","sequence":"additional","affiliation":[]}],"member":"297","reference":[{"key":"BFng0301_309_CR1","first-page":"1065","volume-title":"Peripheral Neuropathy","author":"PJ Dyck","year":"1993","unstructured":"Dyck, P.J. Neuronal atrophy and degeneration predominantly affecting peripheral sensory and autonomic neurones. in Peripheral Neuropathy (eds. Dyck, P.J., Thomas, P.K., Griffin, J.W., Low, P.A. & Poduslo, J.F.) 1065\u20131093 (W B Saunders, Philadelphia, 1993)."},{"key":"BFng0301_309_CR2","doi-asserted-by":"publisher","first-page":"157","DOI":"10.1111\/j.1750-3639.1993.tb00740.x","volume":"3","author":"PK Thomas","year":"1993","unstructured":"Thomas, P.K. Hereditary sensory neuropathies. Brain Pathol. 3, 157\u2013163 (1993).","journal-title":"Brain Pathol."},{"key":"BFng0301_309_CR3","doi-asserted-by":"publisher","first-page":"101","DOI":"10.1038\/ng0596-101","volume":"13","author":"GA Nicholson","year":"1996","unstructured":"Nicholson, G.A. et al. The gene for hereditary sensory neuropathy type I (HSN-I) maps to chromosome 9q22.1\u2013q22.3. Nature Genet. 13, 101\u2013104 (1996).","journal-title":"Nature Genet."},{"key":"BFng0301_309_CR4","doi-asserted-by":"publisher","first-page":"510","DOI":"10.1212\/WNL.52.3.510","volume":"52","author":"K Bejaoui","year":"1999","unstructured":"Bejaoui, K. et al. Confirmation of linkage of type 1 hereditary sensory neuropathy to human chromosome 9q22. Neurology 52, 510\u2013515 (1999).","journal-title":"Neurology"},{"key":"BFng0301_309_CR5","doi-asserted-by":"publisher","first-page":"9078","DOI":"10.1074\/jbc.275.12.9078","volume":"275","author":"DK Perry","year":"2000","unstructured":"Perry, D.K. et al. Serine palmitoyltransferase regulates de novo ceramide generation during etoposide-induced apoptosis. J. Biol. Chem. 275, 9078\u20139084 (2000).","journal-title":"J. Biol. Chem."},{"key":"BFng0301_309_CR6","doi-asserted-by":"publisher","first-page":"32487","DOI":"10.1074\/jbc.273.49.32487","volume":"273","author":"M Shimabukuro","year":"1998","unstructured":"Shimabukuro, M. et al. Lipoapoptosis in \u03b2-cells of obese prediabetic fa\/fa rats. J. Biol. Chem. 273, 32487\u201332490 (1998).","journal-title":"J. Biol. Chem."},{"key":"BFng0301_309_CR7","doi-asserted-by":"publisher","first-page":"30344","DOI":"10.1074\/jbc.M000714200","volume":"275","author":"T Herget","year":"2000","unstructured":"Herget, T. et al. Production of ceramides causes apoptosis during early neural differentiation in vitro. J. Biol. Chem. 275, 30344\u201330354 (2000).","journal-title":"J. Biol. Chem."},{"key":"BFng0301_309_CR8","doi-asserted-by":"publisher","first-page":"277","DOI":"10.1006\/geno.1998.5373","volume":"51","author":"IP Blair","year":"1998","unstructured":"Blair, I.P., Hulme, D., Dawkins, J.L. & Nicholson, G.A. A YAC-based transcript map of human chromosome 9q22.1\u2013q22.3 encompassing the loci for hereditary sensory neuropathy type I and multiple self-healing squamous epithelioma. Genomics 51, 277\u2013281 (1998).","journal-title":"Genomics"},{"key":"BFng0301_309_CR9","doi-asserted-by":"publisher","first-page":"239","DOI":"10.1111\/j.1432-1033.1997.00239.x","volume":"249","author":"B Weiss","year":"1997","unstructured":"Weiss, B. & Stoffel, W. Human and murine serine-palmitoyl-CoA transferase. Cloning, expression and characterization of the key enzyme in sphingolipid synthesis. Eur. J. Biochem. 249, 239\u2013247 (1997).","journal-title":"Eur. J. Biochem."},{"key":"BFng0301_309_CR10","doi-asserted-by":"publisher","first-page":"45","DOI":"10.1212\/WNL.54.1.45","volume":"54","author":"M Auer-Grumbach","year":"2000","unstructured":"Auer-Grumbach, M., Wagner, K., Timmerman, V., De Jonghe, P. & Hartung, H.P. Ulcero-mutilating neuropathy in an Austrian kinship without linkage to hereditary motor and sensory neuropathy IIB and hereditary sensory neuropathy I loci. Neurology 54, 45\u201352 (2000).","journal-title":"Neurology"},{"key":"BFng0301_309_CR11","doi-asserted-by":"publisher","first-page":"237","DOI":"10.1016\/0378-1119(96)00309-5","volume":"177","author":"MM Nagiek","year":"1996","unstructured":"Nagiek, M.M., Lester, R.L. & Dickson, R.C. Sphingolipid synthesis: identification and characterization of mammalian cDNAs encoding the Lcb2 subunit of serine palmitoyltransferase. Gene 177, 237\u2013241 (1996).","journal-title":"Gene"},{"key":"BFng0301_309_CR12","volume-title":"Biochemistry","author":"CK Mathews","year":"1990","unstructured":"Mathews, C.K. & van Holde, K.E. in Biochemistry 617 (Benjamin\/Cummings, Redwood City, 1990)."},{"key":"BFng0301_309_CR13","doi-asserted-by":"publisher","first-page":"116","DOI":"10.1016\/0009-3084(70)90013-7","volume":"5","author":"EE Snell","year":"1970","unstructured":"Snell, E.E., Dimari, S.J. & Brady, R.N. Biosynthesis of sphingosine and dihydrosphingosine by cell-free systems from Hansenula ciferri. Chem. Phys. Lipids 5, 116\u2013138 (1970).","journal-title":"Chem. Phys. Lipids"},{"key":"BFng0301_309_CR14","doi-asserted-by":"publisher","first-page":"7079","DOI":"10.1021\/bi00418a061","volume":"27","author":"KA Medlock","year":"1988","unstructured":"Medlock, K.A. & Merril, J.A.H. Inhibition of serine palmitoyltransferase in vitro and long-chain base biosynthesis in intact Chinese hamster ovary cells by \u03b2-chloroalanine. Biochemistry 27, 7079\u20137084 (1988).","journal-title":"Biochemistry"},{"key":"BFng0301_309_CR15","doi-asserted-by":"publisher","first-page":"32108","DOI":"10.1074\/jbc.272.51.32108","volume":"272","author":"K Hanada","year":"1997","unstructured":"Hanada, K. et al. A mammalian homolog of the yeast LCB1 encodes a component of serine palmitoyltransferase, the enzyme catalyzing the first step in sphingolipid synthesis. J. Biol. Chem. 272, 32108\u201332114 (1997).","journal-title":"J. Biol. Chem."},{"key":"BFng0301_309_CR16","doi-asserted-by":"publisher","first-page":"208","DOI":"10.1006\/taap.1996.8029","volume":"142","author":"JAH Merrill","year":"1997","unstructured":"Merrill, J.A.H. et al. Sphingolipids\u2014the enigmatic lipid class: biochemistry, physiology, and pathophysiology. Toxicol. Appl. Pharmacol. 142, 208\u2013225 (1997).","journal-title":"Toxicol. Appl. Pharmacol."},{"key":"BFng0301_309_CR17","doi-asserted-by":"publisher","first-page":"1352","DOI":"10.1056\/NEJM199805073381904","volume":"338","author":"CA Stanley","year":"1998","unstructured":"Stanley, C.A. et al. Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene. N. Engl. J. Med. 338, 1352\u20131357 (1998).","journal-title":"N. Engl. J. Med."},{"key":"BFng0301_309_CR18","first-page":"3288","volume":"57","author":"C Andreutti-Zaugg","year":"1997","unstructured":"Andreutti-Zaugg, C., Scott, R.J. & Iggo, R. Inhibition of nonsense-mediated messenger RNA decay in clinical samples facilitates detection of human MSH2 mutations with an in vivo fusion protein assay and conventional techniques. Cancer Res. 57, 3288\u20133293 (1997).","journal-title":"Cancer Res."},{"key":"BFng0301_309_CR19","doi-asserted-by":"publisher","first-page":"441","DOI":"10.1016\/0888-7543(92)90266-U","volume":"13","author":"G Sarkar","year":"1992","unstructured":"Sarkar, G., Yoon, H.S. & Sommer, S.S. Dideoxy fingerprinting (ddF): a rapid and efficient screen for the presence of mutations. Genomics 13, 441\u2013443 (1992).","journal-title":"Genomics"},{"key":"BFng0301_309_CR20","doi-asserted-by":"publisher","first-page":"911","DOI":"10.1139\/y59-099","volume":"37","author":"EA Bligh","year":"1959","unstructured":"Bligh, E.A. & Dyer, W.J. A rapid method for total lipid extraction and purification. Can. J. Biochem. Physiol. 37, 911\u2013917 (1959).","journal-title":"Can. J. Biochem. Physiol."}],"container-title":["Nature Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ng0301_309.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng0301_309","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng0301_309.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T20:23:42Z","timestamp":1684441422000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ng0301_309"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,3]]},"references-count":20,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2001,3]]}},"alternative-id":["BFng0301_309"],"URL":"https:\/\/doi.org\/10.1038\/85879","relation":{},"ISSN":["1061-4036","1546-1718"],"issn-type":[{"value":"1061-4036","type":"print"},{"value":"1546-1718","type":"electronic"}],"subject":[],"published":{"date-parts":[[2001,3]]}}}