Calcium-Mediated Calpain Activation and Microtubule Dissociation in Cell Model of Hereditary Sensory Neuropathy Type-1 Expressing V144D SPTLC1 Mutation.
Antony A, Ng N, Lauto A, Coorssen JR, Myers SJ.

Functional and Molecular Characterization of New SPTLC1 Missense Variants in Patients with Hereditary Sensory and Autonomic Neuropathy Type 1 (HSAN1).
Rochat J, Blavier A, Ruet S, Vasseur S, Puma A, Desnous B, Chan V, Delmont E, Attarian S, Juntas Morales R, Quadrio I, Vidoni L, Bonello-Palot N, Cheillan D., Free PMC Article

Mutation screening of SPTLC1 and SPTLC2 in amyotrophic lateral sclerosis.
Li C, Hou Y, Wei Q, Lin J, Jiang Z, Jiang Q, Yang T, Xiao Y, Huang J, Cheng Y, Ou R, Liu K, Chen X, Song W, Zhao B, Wu Y, Cao B, Chen Y, Shang H., Free PMC Article

Clinical feature difference between juvenile amyotrophic lateral sclerosis with SPTLC1 and FUS mutations.
Wang P, Wei Q, Li H, Wu ZY., Free PMC Article

Pathogenic variants in the SPTLC1 gene cause hyperkeratosis lenticularis perstans.
Jägle S, Hsu HH, Juratli HA, Zimmer AD, Prieschl A, Alter S, Wiedenhofer B, Metze D, Emmert S, Fischer J.

The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment.
Fiorillo C, Capodivento G, Geroldi A, Tozza S, Moroni I, Mohassel P, Cataldi M, Campana C, Morando S, Panicucci C, Pedemonte M, Brolatti N, Siliquini S, Traverso M, Baratto S, Debellis D, Magri S, Prada V, Bellone E, Salpietro V, Donkervoort S, Gable K, Gupta SD, Dunn TM, Bönnemann CG, Taroni F, Bruno C, Schenone A, Mandich P, Nobbio L, Nolano M., Free PMC Article

New Insights into the Neuromyogenic Spectrum of a Gain of Function Mutation in SPTLC1.
Kölbel H, Kraft F, Hentschel A, Czech A, Gangfuss A, Mohassel P, Nguyen C, Stenzel W, Schara-Schmidt U, Preuße C, Roos A., Free PMC Article

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.
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., Free PMC Article

Structural insights into the assembly and substrate selectivity of human SPT-ORMDL3 complex.
Li S, Xie T, Liu P, Wang L, Gong X.

Decreased SPTLC1 expression predicts worse outcomes in ccRCC patients.
Zhu WK, Xu WH, Wang J, Huang YQ, Abudurexiti M, Qu YY, Zhu YP, Zhang HL, Ye DW.

SPTLC1 inhibits cell growth via modulating Akt/FOXO1 pathway in renal cell carcinoma cells.
Kong Z, Guo X, Zhao Z, Wu W, Luo L, Zhu Z, Yin S, Cai C, Wu W, Wang D, Liu Y, Duan X.

Serine and Lipid Metabolism in Macular Disease and Peripheral Neuropathy.
Gantner ML, Eade K, Wallace M, Handzlik MK, Fallon R, Trombley J, Bonelli R, Giles S, Harkins-Perry S, Heeren TFC, Sauer L, Ideguchi Y, Baldini M, Scheppke L, Dorrell MI, Kitano M, Hart BJ, Cai C, Nagasaki T, Badur MG, Okada M, Woods SM, Egan C, Gillies M, Guymer R, Eichler F, Bahlo M, Fruttiger M, Allikmets R, Bernstein PS, Metallo CM, Friedlander M., Free PMC Article

The ORMDL/Orm-serine palmitoyltransferase (SPT) complex is directly regulated by ceramide: Reconstitution of SPT regulation in isolated membranes.
Davis DL, Gable K, Suemitsu J, Dunn TM, Wattenberg BW., Free PMC Article

Antitumor activity of a novel and orally available inhibitor of serine palmitoyltransferase.
Yaguchi M, Shibata S, Satomi Y, Hirayama M, Adachi R, Asano Y, Kojima T, Hirata Y, Mizutani A, Kiba A, Sagiya Y.

HSAN1 mutations in serine palmitoyltransferase reveal a close structure-function-phenotype relationship.
Bode H, Bourquin F, Suriyanarayanan S, Wei Y, Alecu I, Othman A, Von Eckardstein A, Hornemann T.

Substrate Availability of Mutant SPT Alters Neuronal Branching and Growth Cone Dynamics in Dorsal Root Ganglia.
Jun BK, Chandra A, Kuljis D, Schmidt BP, Eichler FS., Free PMC Article

Novel HSAN1 mutation in serine palmitoyltransferase resides at a putative phosphorylation site that is involved in regulating substrate specificity.
Ernst D, Murphy SM, Sathiyanadan K, Wei Y, Othman A, Laurá M, Liu YT, Penno A, Blake J, Donaghy M, Houlden H, Reilly MM, Hornemann T., Free PMC Article

Early-onset severe hereditary sensory and autonomic neuropathy type 1 with S331F SPTLC1 mutation.
Suh BC, Hong YB, Nakhro K, Nam SH, Chung KW, Choi BO.

Mutations in the SPTLC1 protein cause mitochondrial structural abnormalities and endoplasmic reticulum stress in lymphoblasts.
Myers SJ, Malladi CS, Hyland RA, Bautista T, Boadle R, Robinson PJ, Nicholson GA.

Phosphorylation of serine palmitoyltransferase long chain-1 (SPTLC1) on tyrosine 164 inhibits its activity and promotes cell survival.
Taouji S, Higa A, Delom F, Palcy S, Mahon FX, Pasquet JM, Bossé R, Ségui B, Chevet E., Free PMC Article

Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort.
Davidson G, Murphy S, Polke J, Laura M, Salih M, Muntoni F, Blake J, Brandner S, Davies N, Horvath R, Price S, Donaghy M, Roberts M, Foulds N, Ramdharry G, Soler D, Lunn M, Manji H, Davis M, Houlden H, Reilly M., Free PMC Article

Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I.
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.

Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids.
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., Free PMC Article

Overexpression of the wild-type SPT1 subunit lowers desoxysphingolipid levels and rescues the phenotype of HSAN1.
Eichler FS, Hornemann T, McCampbell A, Kuljis D, Penno A, Vardeh D, Tamrazian E, Garofalo K, Lee HJ, Kini L, Selig M, Frosch M, Gable K, von Eckardstein A, Woolf CJ, Guan G, Harmon JM, Dunn TM, Brown RH Jr., Free PMC Article

Cell polarity factor Par3 binds SPTLC1 and modulates monocyte serine palmitoyltransferase activity and chemotaxis.
Tamehiro N, Mujawar Z, Zhou S, Zhuang DZ, Hornemann T, von Eckardstein A, Fitzgerald ML., Free PMC Article