| 1 | HSAN1, SPTLC1
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| HSAN1 mutations in serine palmitoyltransferase reveal a close structure-function-phenotype relationship.
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| Bode H, Bourquin F, Suriyanarayanan S, Wei Y, Alecu I, Othman A, Von Eckardstein A, Hornemann T.
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| Hum Mol Genet. Mar 1;25(5):853-65. doi: 10.1093/hmg/ddv611. Epub 2015 Dec 17. 2016
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| 2 | HSAN1, SPTLC1
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| Mutations in the SPTLC1 protein cause mitochondrial structural abnormalities and endoplasmic reticulum stress in lymphoblasts.
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| Myers SJ, Malladi CS, Hyland RA, Bautista T, Boadle R, Robinson PJ, Nicholson GA.
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| DNA Cell Biol. Jul;33(7):399-407. doi: 10.1089/dna.2013.2182. Epub 2014 Mar 27 2014
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| 3 | HSAN1, SPTLC1
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| Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I.
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| 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.
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| Hum Mutat 32(6):E2211-25. doi: 10.1002/humu.21481. Epub 2011 Feb 24.
2011
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| 4 | HSAN1, SPTLC1
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| Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids.
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| Penno A, Reilly MM, Houlden H, Laurá M, Rentsch K, Niederkofler V, Stoeckli ET, Nicholson G, Eichler F, Brown RH Jr, von Eckardstein A, Hornemann T.
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| J Biol Chem 285(15):11178-87. Epub 2010 Jan 22.PMID: 20097765 2010
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| 5 | HSAN1, SPTLC1
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| A disease-causing mutation in the active site of serine palmitoyltransferase causes catalytic promiscuity.
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| Gable K, Gupta SD, Han G, Niranjanakumari S, Harmon JM, Dunn TM.
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| J Biol Chem 285(30):22846-52. Epub 2010 May 26. 2010
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| 6 | CCT5, ELP1, HSAN1, HSAN2A, HSAN3, HSAN4, HSAN5, NGF, NTRK1, SNSP, SPTLC1, WNK1
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| Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.
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| Rotthier A, Baets J, De Vriendt E, Jacobs A, Auer-Grumbach M, Lévy N, Bonello-Palot N, Kilic SS, Weis J, Nascimento A, Swinkels M, Kruyt MC, Jordanova A, De Jonghe P, Timmerman V.
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| Brain 132(Pt 10):2699-711. Epub 2009 Aug 3.PMID: 19651702 2009
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| 7 | HSAN1, SPTLC1
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| Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I).
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| 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.
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| Brain 129(Pt 2):411-25. Epub 2005 Dec 19. 2006
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| 8 | HSAN1, SPTLC1
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| Mutant SPTLC1 dominantly inhibits serine palmitoyltransferase activity in vivo and confers an age-dependent neuropathy.
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| McCampbell A, Truong D, Broom DC, Allchorne A, Gable K, Cutler RG, Mattson MP, Woolf CJ, Frosch MP, Harmon JM, Dunn TM, Brown RH Jr.
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| Hum Mol Genet 14(22):3507-21. Epub 2005 Oct 6. 2005
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| 9 | SPTLC1, HSAN1
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| SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I.
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| Verhoeven K, Coen K, De Vriendt E, Jacobs A, Van Gerwen V, Smouts I, Pou-Serradell A, Martin JJ, Timmerman V, De Jonghe P.
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| Neurology 62(6):1001-2. 2004
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| 10 | HSAN1, SPTLC1
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| Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I.
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| Dawkins JL, Hulme DJ, Brahmbhatt SB, Auer-Grumbach M, Nicholson GA.
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| Nat Genet 27(3):309-12. 2001
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| 11 | ECM2, FGD3, HSAN1, NINJ1, OGN, OMD, ROR2, SPTLC1
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| SPTLC1 is mutated in hereditary sensory neuropathy, type 1.
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| Bejaoui K, Wu C, Scheffler MD, Haan G, Ashby P, Wu L, de Jong P, Brown RH Jr.
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| Nat Genet 27(3):261-2. 2001
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| 12 | HSAN1, NFIL3
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| Exclusion of NFIL3 as the gene causing hereditary sensory neuropathy type I by mutation analysis.
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| Hulme DJ, Blair IP, Dawkins JL, Nicholson GA.
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| Hum Genet 106(6):594-6. 2000
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| 13 | HSAN1, NINJ1
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| Exclusion of the ninjurin gene as a candidate for hereditary sensory neuropathies type I and type II.
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| Mandich P, et al.
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| Am J Med Genet 83(5):409-10. 1999
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| 14 | HSAN1
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| Confirmation of linkage of type 1 hereditary sensory neuropathy to human chromosome 9q22.
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| Bejaoui K, et al.
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| Neurology 52(3):510-5. 1999
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| 15 | NR4A3, HSAN1, MSSE, NINJ1
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| A YAC-based transcript map of human chromosome 9p22.1-q22.3 encompassing the loci for hereditary sensory neuropathy type I and multiple self-healing squamous epithelioma.
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| Blair IP, et al.
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| Genomics 51 : 277-281. 1998
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| 16 | HSAN1
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| Fine mapping of the hereditary sensory neuropathy type I locus on chromosome 9q22.1-->q22.3: exclusion of GAS1 and XPA.
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| Blair IP, Dawkins JL, Nicholson GA.
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| Cytogenet Cell Genet 78(2):140-4. 1997
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| 17 | HSAN1
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| The gene for hereditary sensory neuropathy type I (HSN-1) maps to chromosome 9q22.1-q22.3.
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| Nicholson GA, et al.
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| Nat Genet 13 : 101-104. 1996
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