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5. 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 Hum Mol Genet; 2016 Mar; 25(5):853-65. PubMed ID: 26681808 [TBL] [Abstract][Full Text] [Related]
6. 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 Neuropathol Appl Neurobiol; 2022 Dec; 48(7):e12842. PubMed ID: 35904184 [TBL] [Abstract][Full Text] [Related]
7. 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 N Engl J Med; 2019 Oct; 381(15):1422-1433. PubMed ID: 31509666 [TBL] [Abstract][Full Text] [Related]
8. A de novo c.113 T > C: p.L38R mutation of Liu X; He J; Yu W; Fan D Amyotroph Lateral Scler Frontotemporal Degener; 2022 Nov; 23(7-8):634-637. PubMed ID: 36204986 [No Abstract] [Full Text] [Related]
10. 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 J Neurosci; 2009 Nov; 29(46):14646-51. PubMed ID: 19923297 [TBL] [Abstract][Full Text] [Related]
11. 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 Hum Mutat; 2011 Jun; 32(6):E2211-25. PubMed ID: 21618344 [TBL] [Abstract][Full Text] [Related]
12. 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 Neuromolecular Med; 2015 Mar; 17(1):47-57. PubMed ID: 25567748 [TBL] [Abstract][Full Text] [Related]
13. 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; von Eckardstein A; Hornemann T J Biol Chem; 2010 Apr; 285(15):11178-87. PubMed ID: 20097765 [TBL] [Abstract][Full Text] [Related]
14. Oral L-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1. Garofalo K; Penno A; Schmidt BP; Lee HJ; Frosch MP; von Eckardstein A; Brown RH; Hornemann T; Eichler FS J Clin Invest; 2011 Dec; 121(12):4735-45. PubMed ID: 22045570 [TBL] [Abstract][Full Text] [Related]
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