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References

These sources were used to develop the Genetics Home Reference gene summary on the SPTLC1 gene.

Bejaoui K, Uchida Y, Yasuda S, Ho M, Nishijima M, Brown RH Jr, Holleran WM, Hanada K. Hereditary sensory neuropathy type 1 mutations confer dominant negative effects on serine palmitoyltransferase, critical for sphingolipid synthesis. J Clin Invest. 2002 Nov;110(9):1301-8. PubMed citation
Bejaoui K, Wu C, Scheffler MD, Haan G, Ashby P, Wu L, de Jong P, Brown RH Jr. SPTLC1 is mutated in hereditary sensory neuropathy, type 1. Nat Genet. 2001 Mar;27(3):261-2. PubMed citation
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. 2001 Mar;27(3):309-12. PubMed citation
Entrez Gene
Hornemann T, Penno A, Richard S, Nicholson G, van Dijk FS, Rotthier A, Timmerman V, von Eckardstein A. A systematic comparison of all mutations in hereditary sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not disease associated. Neurogenetics. 2009 Apr;10(2):135-43. doi: 10.1007/s10048-008-0168-7. Epub 2009 Jan 9. PubMed citation
Hornemann T, Richard S, Rütti MF, Wei Y, von Eckardstein A. Cloning and initial characterization of a new subunit for mammalian serine-palmitoyltransferase. J Biol Chem. 2006 Dec 8;281(49):37275-81. Epub 2006 Oct 4. PubMed citation
Hornemann T, Wei Y, von Eckardstein A. Is the mammalian serine palmitoyltransferase a high-molecular-mass complex? Biochem J. 2007 Jul 1;405(1):157-64. PubMed citation
Houlden H, King R, Blake J, Groves M, Love S, Woodward C, Hammans S, Nicoll J, Lennox G, O'Donovan DG, Gabriel C, Thomas PK, Reilly MM. Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I). Brain. 2006 Feb;129(Pt 2):411-25. Epub 2005 Dec 19. PubMed citation
Nicholson GA, Dawkins JL, Blair IP, Auer-Grumbach M, Brahmbhatt SB, Hulme DJ. Hereditary sensory neuropathy type I: haplotype analysis shows founders in southern England and Europe. Am J Hum Genet. 2001 Sep;69(3):655-9. Epub 2001 Jul 27. PubMed citation
OMIM: SERINE PALMITOYLTRANSFERASE, LONG-CHAIN BASE SUBUNIT 1
Wei J, Yerokun T, Leipelt M, Haynes CA, Radhakrishna H, Momin A, Kelly S, Park H, Wang E, Carton JM, Uhlinger DJ, Merrill AH Jr. Serine palmitoyltransferase subunit 1 is present in the endoplasmic reticulum, nucleus and focal adhesions, and functions in cell morphology. Biochim Biophys Acta. 2009 Aug;1791(8):746-56. doi: 10.1016/j.bbalip.2009.03.016. Epub 2009 Apr 9. PubMed citation