Dawkins JL, Hulme DJ, Brahmbhatt SB, Auer-Grumbach M, Nicholson GA

Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I.

Nat Genet 27:309-12 (2001)
DOI:10.1038/85879

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, Kolbel H, Piccus Z, Le Pichon CE, Fiorillo C, Ly CV, Topf 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, Hoke A, Brown RH, Lee CH, Hornemann T, Dunn TM, Bonnemann CG

Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis.

Nat Med 27:1197-1204 (2021)
DOI:10.1038/s41591-021-01346-1