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Items: 1 to 20 of 124

1.

Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I.

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.

Hum Mutat. 2011 Jun;32(6):E2211-25. doi: 10.1002/humu.21481. Epub 2011 Feb 24.

PMID:
21618344
2.

Mutant SPTLC1 dominantly inhibits serine palmitoyltransferase activity in vivo and confers an age-dependent neuropathy.

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.

Hum Mol Genet. 2005 Nov 15;14(22):3507-21. Epub 2005 Oct 6.

PMID:
16210380
3.

Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I.

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, Seeman P, De Jonghe P, Van Dijck P, Jordanova A, Hornemann T, Timmerman V.

Am J Hum Genet. 2010 Oct 8;87(4):513-22. doi: 10.1016/j.ajhg.2010.09.010.

4.

Exclusion of serine palmitoyltransferase long chain base subunit 2 (SPTLC2) as a common cause for hereditary sensory neuropathy.

Dawkins JL, Brahmbhatt S, Auer-Grumbach M, Wagner K, Hartung HP, Verhoeven K, Timmerman V, De Jonghe P, Kennerson M, LeGuern E, Nicholson GA.

Neuromuscul Disord. 2002 Oct;12(7-8):656-8.

PMID:
12207934
5.

HSAN1 mutations in serine palmitoyltransferase reveal a close structure-function-phenotype relationship.

Bode H, Bourquin F, Suriyanarayanan S, Wei Y, Alecu I, Othman A, Von Eckardstein A, Hornemann T.

Hum Mol Genet. 2016 Mar 1;25(5):853-65. doi: 10.1093/hmg/ddv611. Epub 2015 Dec 17.

6.

Early-onset severe hereditary sensory and autonomic neuropathy type 1 with S331F SPTLC1 mutation.

Suh BC, Hong YB, Nakhro K, Nam SH, Chung KW, Choi BO.

Mol Med Rep. 2014 Feb;9(2):481-6. doi: 10.3892/mmr.2013.1808. Epub 2013 Nov 18.

PMID:
24247255
7.

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.

PMID:
11242114
8.

Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype.

Auer-Grumbach M, Bode H, Pieber TR, Schabhüttl M, Fischer D, Seidl R, Graf E, Wieland T, Schuh R, Vacariu G, Grill F, Timmerman V, Strom TM, Hornemann T.

Eur J Med Genet. 2013 May;56(5):266-9. doi: 10.1016/j.ejmg.2013.02.002. Epub 2013 Feb 27.

9.

SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I.

Verhoeven K, Coen K, De Vriendt E, Jacobs A, Van Gerwen V, Smouts I, Pou-Serradell A, Martin JJ, Timmerman V, De Jonghe P.

Neurology. 2004 Mar 23;62(6):1001-2.

PMID:
15037712
10.

Hereditary sensory and autonomic neuropathy type I in a Chinese family: British C133W mutation exists in the Chinese.

Bi H, Gao Y, Yao S, Dong M, Headley AP, Yuan Y.

Neuropathology. 2007 Oct;27(5):429-33.

PMID:
18018475
11.

Overexpression of the wild-type SPT1 subunit lowers desoxysphingolipid levels and rescues the phenotype of HSAN1.

Eichler FS, Hornemann T, McCampbell A, Kuljis D, Penno A, Vardeh D, Tamrazian E, Garofalo K, Lee HJ, Kini L, Selig M, Frosch M, Gable K, von Eckardstein A, Woolf CJ, Guan G, Harmon JM, Dunn TM, Brown RH Jr.

J Neurosci. 2009 Nov 18;29(46):14646-51. doi: 10.1523/JNEUROSCI.2536-09.2009.

12.

Mutations in the yeast LCB1 and LCB2 genes, including those corresponding to the hereditary sensory neuropathy type I mutations, dominantly inactivate serine palmitoyltransferase.

Gable K, Han G, Monaghan E, Bacikova D, Natarajan M, Williams R, Dunn TM.

J Biol Chem. 2002 Mar 22;277(12):10194-200. Epub 2002 Jan 7.

13.

Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids.

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.

J Biol Chem. 2010 Apr 9;285(15):11178-87. doi: 10.1074/jbc.M109.092973. Epub 2010 Jan 22.

14.

A systematic comparison of all mutations in hereditary sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not disease associated.

Hornemann T, Penno A, Richard S, Nicholson G, van Dijk FS, Rotthier A, Timmerman V, von Eckardstein A.

Neurogenetics. 2009 Apr;10(2):135-43. doi: 10.1007/s10048-008-0168-7. Epub 2009 Jan 9.

PMID:
19132419
15.

The SPTLC3 subunit of serine palmitoyltransferase generates short chain sphingoid bases.

Hornemann T, Penno A, Rütti MF, Ernst D, Kivrak-Pfiffner F, Rohrer L, von Eckardstein A.

J Biol Chem. 2009 Sep 25;284(39):26322-30. doi: 10.1074/jbc.M109.023192. Epub 2009 Aug 1.

16.

Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.

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.

Brain. 2009 Oct;132(Pt 10):2699-711. doi: 10.1093/brain/awp198. Epub 2009 Aug 3.

17.

Is the mammalian serine palmitoyltransferase a high-molecular-mass complex?

Hornemann T, Wei Y, von Eckardstein A.

Biochem J. 2007 Jul 1;405(1):157-64.

18.

SPTLC1 is mutated in hereditary sensory neuropathy, type 1.

Bejaoui K, Wu C, Scheffler MD, Haan G, Ashby P, Wu L, de Jong P, Brown RH Jr.

Nat Genet. 2001 Mar;27(3):261-2.

PMID:
11242106
19.

Cloning and initial characterization of a new subunit for mammalian serine-palmitoyltransferase.

Hornemann T, Richard S, Rütti MF, Wei Y, von Eckardstein A.

J Biol Chem. 2006 Dec 8;281(49):37275-81. Epub 2006 Oct 4.

20.

Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I).

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.

Brain. 2006 Feb;129(Pt 2):411-25. Epub 2005 Dec 19.

PMID:
16364956

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