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Number of items: 8.

Rotthier, A; Penno, A; Rautenstrauss, B; Auer-Grumbach, M; Stettner, G M; Asselbergh, B; Van Hoof, K; Sticht, H; Lévy, N; Timmerman, V; Hornemann, T; Janssens, K (2011). Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I. Human Mutation, 32(6):E2211-E2225.

Garofalo, K; Penno, A; Schmidt, B P; Lee, H J; Frosch, M P; von Eckardstein, Arnold; Brown, R H; Hornemann, T; Eichler, F S (2011). Oral L-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1. Journal of Clinical Investigation, 121(12):4735-4745.

Penno, A; Reilly, M M; Houlden, H; Laurá, M; Rentsch, K; Niederkofler, V; Stoeckli, E T; Nicholson, G; Eichler, F; Brown, R H; von Eckardstein, Arnold; Hornemann, T (2010). Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids. Journal of Biological Chemistry, 285(15):11178-11187.

Rotthier, A; Auer-Grumbach, M; Janssens, K; Baets, J; Penno, A; Almeida-Souza, L; Van Hoof, K; Jacobs, A; De Vriendt, E; Schlotter-Weigel, B; Löscher, W; Vondráček, P; Seemann, P; De Jonghe, P; Van Dijck, P; Jordanova, A; Hornemann, T; Timmerman, V (2010). Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I. American Journal of Human Genetics, 87(4):513-522.

Hornemann, T; Penno, A; Richard, S; Nicholson, G; van Dijk, F S; Rotthier, A; Timmerman, V; von Eckardstein, A (2009). A systematic comparison of all mutations in hereditary sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not disease associated. Neurogenetics, 10(2):135-143.

Rütti, M F; Richard, S; Penno, A; von Eckardstein, A; Hornemann, T (2009). An improved method to determine serine palmitoyltransferase activity. Journal of Lipid Research, 50(6):1237-1244.

Eichler, F S; Hornemann, T; McCampbell, A; Kuljis, D; Penno, A; Vardeh, D; Tamrazian, E; Garofalo, K; Lee, H J; Kini, L; Seligman, M; Frosch, M; Gable, K; von Eckardstein, A; Woolf, C J; Guan, G; Harmon, J M; Dunn, T M; Brown, R H (2009). Overexpression of the wild-type SPT1 subunit lowers Desoxysphingolipid levels and rescues the phenotype of HSAN1. Journal of Neuroscience, 29(46):14646-14651.

Hornemann, T; Penno, A; Rütti, M F; Ernst, D; Kivrak-Pfiffner, F; Rohrer, L; von Eckardstein, A (2009). The SPTLC3 subunit of serine palmitoyltransferase generates short chain sphingoid bases. Journal of Biological Chemistry, 284(39):26322-26330.

This list was generated on Tue Jul 25 14:04:40 2017 CEST.