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3. 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 DNA Cell Biol; 2014 Jul; 33(7):399-407. PubMed ID: 24673574 [TBL] [Abstract][Full Text] [Related]
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5. Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I. Dawkins JL; Hulme DJ; Brahmbhatt SB; Auer-Grumbach M; Nicholson GA Nat Genet; 2001 Mar; 27(3):309-12. PubMed ID: 11242114 [TBL] [Abstract][Full Text] [Related]
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9. Hereditary sensory neuropathy type 1-associated deoxysphingolipids cause neurotoxicity, acute calcium handling abnormalities and mitochondrial dysfunction in vitro. Wilson ER; Kugathasan U; Abramov AY; Clark AJ; Bennett DLH; Reilly MM; Greensmith L; Kalmar B Neurobiol Dis; 2018 Sep; 117():1-14. PubMed ID: 29778900 [TBL] [Abstract][Full Text] [Related]
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18. 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]
19. Autosomal dominant inherited neuropathies with prominent sensory loss and mutilations: a review. Auer-Grumbach M; De Jonghe P; Verhoeven K; Timmerman V; Wagner K; Hartung HP; Nicholson GA Arch Neurol; 2003 Mar; 60(3):329-34. PubMed ID: 12633143 [TBL] [Abstract][Full Text] [Related]