| 1 | ALS27, SPTLC1
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| SPTLC1 p.Leu38Arg, a novel mutation associated with childhood ALS.
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| Lone MA, Zeng S, Bourquin F, Wang M, Huang S, Lin Z, Tang B, Zhang R, Hornemann T.
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| Biochim Biophys Acta Mol Cell Biol Lipids. Sep;1868(9):159359. doi: 10.1016/j.bbalip.2023.159359. Epub 2023 Jun 20. 2023
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| 2 | ALS27, SPTLC1
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| Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis
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| Johnson JO, Chia R, Miller DE, Li R, Kumaran R, Abramzon Y, Alahmady N, Renton AE, Topp SD, Gibbs JR, Cookson MR, Sabir MS, Dalgard CL, Troakes C, Jones AR, Shatunov A, Iacoangeli A, Al Khleifat A, Ticozzi N, Silani V, Gellera C, Blair IP, Dobson-Stone C, Kwok JB, Bonkowski ES, Palvadeau R, Tienari PJ, Morrison KE, Shaw PJ, Al-Chalabi A, Brown RH Jr, Calvo A, Mora G, Al-Saif H, Gotkine M, Leigh F, Chang IJ, Perlman SJ, Glass I, Scott AI, Shaw CE, Basak AN, Landers JE, Chiò A, Crawford TO, Smith BN, Traynor BJ; FALS Sequencing Consortium; American Genome Center; International ALS Genomics Consortium; and ITALSGEN Consortium; Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp SD, Scotter EL, Kenna KP, Keagle P, Tiloca C, Vance C, Troakes C, Colombrita C, King A, Pensato V, Castellotti B, Baas F, Ten Asbroek ALMA, McKenna-Yasek D, McLaughlin RL, Polak M, Asress S, Esteban-Pérez J, Stevic Z, D'Alfonso S, Mazzini L, Comi GP, Del Bo R, Ceroni M, Gagliardi S, Querin G, Bertolin C, van Rheenen W, Rademakers R, van Blitterswijk M, Lauria G, Duga S, Corti S, Cereda C, Corrado L, Sorarù G, Williams KL, Nicholson GA, Blair IP, Leblond-Manry C, Rouleau GA, Hardiman O, Morrison KE, Veldink JH, van den Berg LH, Al-Chalabi A, Pall H, Shaw PJ, Turner MR, Talbot K, Taroni F, García-Redondo A, Wu Z, Glass JD, Gellera C, Ratti A, Brown RH Jr, Silani V, Shaw CE, Landers JE, Dalgard CL, Adeleye A, Soltis AR, Alba C, Viollet C, Bacikova D, Hupalo DN, Sukumar G, Pollard HB, Wilkerson MD, Martinez EM, Abramzon Y, Ahmed S, Arepalli S, Baloh RH, Bowser R, Brady CB, Brice A, Broach J, Campbell RH, Camu W, Chia R, Cooper-Knock J, Ding J, Drepper C, Drory VE, Dunckley TL, Eicher JD, England BK, Faghri F, Feldman E, Floeter MK, Fratta P, Geiger JT, Gerhard G, Gibbs JR, Gibson SB, Glass JD, Hardy J, Harms MB, Heiman-Patterson TD, Hernandez DG, Jansson L, Kirby J, Kowall NW, Laaksovirta H, Landeck N, Landi F, Le Ber I, Lumbroso S, MacGowan DJL, Maragakis NJ, Mora G, Mouzat K, Murphy NA, Myllykangas L, Nalls MA, Orrell RW, Ostrow LW, Pamphlett R, Pickering-Brown S, Pioro EP, Pletnikova O, Pliner HA, Pulst SM, Ravits JM, Renton AE, Rivera A, Robberecht W, Rogaeva E, Rollinson S, Rothstein JD, Scholz SW, Sendtner M, Shaw PJ, Sidle KC, Simmons Z, Singleton AB, Smith N, Stone DJ, Tienari PJ, Troncoso JC, Valori M, Van Damme P, Van Deerlin VM, Van Den Bosch L, Zinman L, Landers JE, Chiò A, Traynor BJ, Angelocola SM, Ausiello FP, Barberis M, Bartolomei I, Battistini S, Bersano E, Bisogni G, Borghero G, Brunetti M, Cabona C, Calvo A, Canale F, Canosa A, Cantisani TA, Capasso M, Caponnetto C, Cardinali P, Carrera P, Casale F, Chiò A, Colletti T, Conforti FL, Conte A, Conti E, Corbo M, Cuccu S, Dalla Bella E, D'Errico E, DeMarco G, Dubbioso R, Ferrarese C, Ferraro PM, Filippi M, Fini N, Floris G, Fuda G, Gallone S, Gianferrari G, Giannini F, Grassano M, Greco L, Iazzolino B, Introna A, La Bella V, Lattante S, Lauria G, Liguori R, Logroscino G, Logullo FO, Lunetta C, Mandich P, Mandrioli J, Manera U, Manganelli F, Marangi G, Marinou K, Marrosu MG, Martinelli I, Messina S, Moglia C, Mora G, Mosca L, Murru MR, Origone P, Passaniti C, Petrelli C, Petrucci A, Pozzi S, Pugliatti M, Quattrini A, Ricci C, Riolo G, Riva N, Russo M, Sabatelli M, Salamone P, Salivetto M, Salvi F, Santarelli M, Sbaiz L, Sideri R, Simone I, Simonini C, Spataro R, Tanel R, Tedeschi G, Ticca A, Torriello A, Tranquilli S, Tremolizzo L, Trojsi F, Vasta R, Vacchiano V, Vita G, Volanti P, Zollino M, Zucchi E.
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| JAMA Neurol. Oct 1;78(10):1236-1248. doi: 10.1001/jamaneurol.2021.2598 2021
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| 3 | ALS27, SPTLC1
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| Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis.
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| Mohassel P, Donkervoort S, Lone MA, Nalls M, Gable K, Gupta SD, Foley AR, Hu Y, Saute JAM, Moreira AL, Kok F, Introna A, Logroscino G, Grunseich C, Nickolls AR, Pourshafie N, Neuhaus SB, Saade D, Gangfuß A, Kölbel H, Piccus Z, Le Pichon CE, Fiorillo C, Ly CV, Töpf A, Brady L, Specht S, Zidell A, Pedro H, Mittelmann E, Thomas FP, Chao KR, Konersman CG, Cho MT, Brandt T, Straub V, Connolly AM, Schara U, Roos A, Tarnopolsky M, Höke A, Brown RH, Lee CH, Hornemann T, Dunn TM, Bönnemann CG.
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| Nat Med. Jul;27(7):1197-1204. doi: 10.1038/s41591-021-01346-1. Epub 2021 May 31. 2021
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| 4 | SPTLC1, SPTLC2
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| Serine palmitoyltransferase assembles at ER-mitochondria contact sites
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| Aaltonen MJ, Alecu I, König T, Bennett SA, Shoubridge EA.
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| Life Sci Alliance. Nov 16;5(2):e202101278. doi: 10.26508/lsa.202101278. 2021
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| 5 | SPTLC1
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| SPTLC1 inhibits cell growth via modulating Akt/FOXO1 pathway in renal cell carcinoma cells.
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| Kong Z, Guo X, Zhao Z, Wu W, Luo L, Zhu Z, Yin S, Cai C, Wu W, Wang D, Liu Y, Duan X.
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| Biochem Biophys Res Commun. Nov 26;520(1):1-7. doi: 10.1016/j.bbrc.2019.09.073. Epub 2019 Sep 22. 2019
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| 6 | SPTLC1
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| Sptlc1 is essential for myeloid differentiation and hematopoietic homeostasis.
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| Parthibane V, Acharya D, Srideshikan SM, Lin J, Myerscough DG, Abimannan T, Vijaykrishna N, Blankenberg D, Bondada L, Klarmann KD, Fox SD, Andresson T, Tessarollo L, Acharya U, Keller JR, Acharya JK.
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| Blood Adv. Nov 26;3(22):3635-3649. doi: 10.1182/bloodadvances.2019000729. 2019
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| 7 | ORMDL3, SPTLC1
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| ORMDL3 expression levels have no influence on the activity of serine palmitoyltransferase.
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| Zhakupova A, Debeuf N, Krols M, Toussaint W, Vanhoutte L, Alecu I, Kutalik Z, Vollenweider P, Ernst D, von Eckardstein A, Lambrecht BN, Janssens S, Hornemann T.
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| FASEB J 30(12):4289-4300. Epub 2016 Sep 19.
2016
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| 8 | HSAN1, SPTLC1
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| HSAN1 mutations in serine palmitoyltransferase reveal a close structure-function-phenotype relationship.
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| Bode H, Bourquin F, Suriyanarayanan S, Wei Y, Alecu I, Othman A, Von Eckardstein A, Hornemann T.
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| Hum Mol Genet. Mar 1;25(5):853-65. doi: 10.1093/hmg/ddv611. Epub 2015 Dec 17. 2016
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| 9 | ORMDL1, ORMDL2, ORMDL3, SPTLC1
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| Expression of the ORMDLS, modulators of serine palmitoyltransferase, is regulated by sphingolipids in mammalian cells.
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| Gupta SD, Gable K, Alexaki A, Chandris P, Proia RL, Dunn TM, Harmon JM.
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| J Biol Chem 290(1):90-8. doi: 10.1074/jbc.M114.588236. Epub 2014 Nov 13.
2015
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| 10 | HSAN1, SPTLC1
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| Mutations in the SPTLC1 protein cause mitochondrial structural abnormalities and endoplasmic reticulum stress in lymphoblasts.
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| Myers SJ, Malladi CS, Hyland RA, Bautista T, Boadle R, Robinson PJ, Nicholson GA.
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| DNA Cell Biol. Jul;33(7):399-407. doi: 10.1089/dna.2013.2182. Epub 2014 Mar 27 2014
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| 11 | MIR137, SPTLC1, SPTLC2, SPTLC3
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| MicroRNA-137/181c regulates serine palmitoyltransferase and in turn amyloid β, novel targets in sporadic Alzheimer's disease.
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| Geekiyanage H, Chan C.
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| J Neurosci 31(41):14820-30.
2011
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| 12 | HSAN1, SPTLC1
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| Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I.
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| Rotthier A, Penno A, Rautenstrauss B, Auer-Grumbach M, Stettner GM, Asselbergh B, Van Hoof K, Sticht H, Lévy N, Timmerman V, Hornemann T, Janssens K.
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| Hum Mutat 32(6):E2211-25. doi: 10.1002/humu.21481. Epub 2011 Feb 24.
2011
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| 13 | HSAN1, SPTLC1
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| Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids.
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| Penno A, Reilly MM, Houlden H, Laurá M, Rentsch K, Niederkofler V, Stoeckli ET, Nicholson G, Eichler F, Brown RH Jr, von Eckardstein A, Hornemann T.
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| J Biol Chem 285(15):11178-87. Epub 2010 Jan 22.PMID: 20097765 2010
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| 14 | HSAN1, SPTLC1
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| A disease-causing mutation in the active site of serine palmitoyltransferase causes catalytic promiscuity.
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| Gable K, Gupta SD, Han G, Niranjanakumari S, Harmon JM, Dunn TM.
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| J Biol Chem 285(30):22846-52. Epub 2010 May 26. 2010
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| 15 | CCT5, ELP1, HSAN1, HSAN2A, HSAN3, HSAN4, HSAN5, NGF, NTRK1, SNSP, SPTLC1, WNK1
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| Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.
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| Rotthier A, Baets J, De Vriendt E, Jacobs A, Auer-Grumbach M, Lévy N, Bonello-Palot N, Kilic SS, Weis J, Nascimento A, Swinkels M, Kruyt MC, Jordanova A, De Jonghe P, Timmerman V.
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| Brain 132(Pt 10):2699-711. Epub 2009 Aug 3.PMID: 19651702 2009
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| 16 | PARD3, SPTLC1
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| Cell polarity factor Par3 binds SPTLC1 and modulates monocyte serine palmitoyltransferase activity and chemotaxis.
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| Tamehiro N, Mujawar Z, Zhou S, Zhuang DZ, Hornemann T, von Eckardstein A, Fitzgerald ML.
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| J Biol Chem 284(37):24881-90. Epub 2009 Jul 10.PMID: 19592499 2009
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| 17 | SPTLC1
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| Serine palmitoyltransferase subunit 1 is present in the endoplasmic reticulum, nucleus and focal adhesions, and functions in cell morphology.
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| Wei J, Yerokun T, Leipelt M, Haynes CA, Radhakrishna H, Momin A, Kelly S, Park H, Wang E, Carton JM, Uhlinger DJ, Merrill AH Jr.
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| Biochim Biophys Acta 1791(8):746-56. Epub 2009 Apr 9.PMID: 19362163 2009
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| 18 | SPTLC1, SPTLC2, SPTSSA, SPTSSB
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| Identification of small subunits of mammalian serine palmitoyltransferase that confer distinct acyl-CoA substrate specificities.
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| Han G, Gupta SD, Gable K, Niranjanakumari S, Moitra P, Eichler F, Brown RH Jr, Harmon JM, Dunn TM.
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| Proc Natl Acad Sci U S A 106(20):8186-91. doi: 10.1073/pnas.0811269106. Erratum in: Proc Natl Acad Sci U S A. 2009 Jun 16;106(24):9931.
2009
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| 19 | ABCA1, SPTLC1
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| SPTLC1 binds ABCA1 to negatively regulate trafficking and cholesterol efflux activity of the transporter.
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| Tamehiro N, Zhou S, Okuhira K, Benita Y, Brown CE, Zhuang DZ, Latz E, Hornemann T, von Eckardstein A, Xavier RJ, Freeman MW, Fitzgerald ML.
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| Biochemistry 47(23):6138-47. Epub 2008 May 17.PMID: 18484747 2008
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| 20 | SPTLC1, SPTLC2, SPTLC3
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| Is the mammalian serine palmitoyltransferase a high-molecular-mass complex?
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| Hornemann T, Wei Y, von Eckardstein A.
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| Biochem J 405(1):157-64. 2007
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| 21 | HSAN1, SPTLC1
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| Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I).
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| Houlden H, King R, Blake J, Groves M, Love S, Woodward C, Hammans S, Nicoll J, Lennox G, O'Donovan DG, Gabriel C, Thomas PK, Reilly MM.
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| Brain 129(Pt 2):411-25. Epub 2005 Dec 19. 2006
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| 22 | SPTLC1, SPTLC2, SPTLC3
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| Cloning and initial characterization of a new subunit for mammalian serine-palmitoyltransferase.
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| Hornemann T, Richard S, R�tti MF, Wei Y, von Eckardstein A.
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| J Biol Chem 281(49):37275-81. Epub 2006 Oct 4. 2006
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| 23 | HSAN1, SPTLC1
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| Mutant SPTLC1 dominantly inhibits serine palmitoyltransferase activity in vivo and confers an age-dependent neuropathy.
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| McCampbell A, Truong D, Broom DC, Allchorne A, Gable K, Cutler RG, Mattson MP, Woolf CJ, Frosch MP, Harmon JM, Dunn TM, Brown RH Jr.
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| Hum Mol Genet 14(22):3507-21. Epub 2005 Oct 6. 2005
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| 24 | SPTLC1, HSAN1
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| SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I.
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| Verhoeven K, Coen K, De Vriendt E, Jacobs A, Van Gerwen V, Smouts I, Pou-Serradell A, Martin JJ, Timmerman V, De Jonghe P.
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| Neurology 62(6):1001-2. 2004
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| 25 | SPTLC1, SPTLC2
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| Exclusion of serine palmitoyltransferase long chain base subunit 2 (SPTLC2) as a common cause for hereditary sensory neuropathy.
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| Dawkins JL, Brahmbhatt S, Auer-Grumbach M, Wagner K, Hartung HP, Verhoeven K, Timmerman V, De Jonghe P, Kennerson M, LeGuern E, Nicholson GA.
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| Neuromuscul Disord 12(7-8):656-8. 2002
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| 26 | HSAN1, SPTLC1
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| Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I.
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| Dawkins JL, Hulme DJ, Brahmbhatt SB, Auer-Grumbach M, Nicholson GA.
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| Nat Genet 27(3):309-12. 2001
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| 27 | ECM2, FGD3, HSAN1, NINJ1, OGN, OMD, ROR2, SPTLC1
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| SPTLC1 is mutated in hereditary sensory neuropathy, type 1.
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| Bejaoui K, Wu C, Scheffler MD, Haan G, Ashby P, Wu L, de Jong P, Brown RH Jr.
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| Nat Genet 27(3):261-2. 2001
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| 28 | SPTLC1
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| A mammalian homolog of the yeast LCB1 encodes a component of serine palmitoyltransferase, the enzyme catalyzing the first step in sphingolipid synthesis.
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| Hanada K, Hara T, Nishijima M, Kuge O, Dickson RC, Nagiec MM.
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| J Biol Chem 272(51):32108-14. 1997
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| 29 | SPTLC1, SPTLC2
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| Human and murine serine-palmitoyl-CoA transferase--cloning, expression and characterization of the key enzyme in sphingolipid synthesis.
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| Weiss B, Stoffel W.
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| Eur J Biochem 249(1):239-47. 1997
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