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Results: 1 to 20 of 100

1.

Oral L-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1.

Garofalo K, Penno A, Schmidt BP, Lee HJ, Frosch MP, von Eckardstein A, Brown RH, Hornemann T, Eichler FS.

J Clin Invest. 2011 Dec;121(12):4735-45. doi: 10.1172/JCI57549.

PMID:
22045570
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

The debut of a rational treatment for an inherited neuropathy?

Scherer SS.

J Clin Invest. 2011 Dec;121(12):4624-7. doi: 10.1172/JCI60511.

PMID:
22045569
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

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.

PMID:
19923297
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

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.

PMID:
20097765
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

A disease-causing mutation in the active site of serine palmitoyltransferase causes catalytic promiscuity.

Gable K, Gupta SD, Han G, Niranjanakumari S, Harmon JM, Dunn TM.

J Biol Chem. 2010 Jul 23;285(30):22846-52. doi: 10.1074/jbc.M110.122259. Epub 2010 May 26.

PMID:
20504773
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

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
[PubMed - indexed for MEDLINE]
Free Article
7.

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
[PubMed - indexed for MEDLINE]
8.

The pyridoxal 5'-phosphate (PLP)-dependent enzyme serine palmitoyltransferase (SPT): effects of the small subunits and insights from bacterial mimics of human hLCB2a HSAN1 mutations.

Beattie AE, Gupta SD, Frankova L, Kazlauskaite A, Harmon JM, Dunn TM, Campopiano DJ.

Biomed Res Int. 2013;2013:194371. doi: 10.1155/2013/194371. Epub 2013 Sep 23.

PMID:
24175284
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

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
[PubMed - indexed for MEDLINE]
10.

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
[PubMed - indexed for MEDLINE]
11.

Hereditary sensory neuropathy type 1 mutations confer dominant negative effects on serine palmitoyltransferase, critical for sphingolipid synthesis.

Bejaoui K, Uchida Y, Yasuda S, Ho M, Nishijima M, Brown RH Jr, Holleran WM, Hanada K.

J Clin Invest. 2002 Nov;110(9):1301-8.

PMID:
12417569
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Lowering Plasma 1-Deoxysphingolipids Improves Neuropathy in Diabetic Rats.

Othman A, Bianchi R, Alecu I, Wei Y, Porretta-Serapiglia C, Lombardi R, Chiorazzi A, Meregalli C, Oggioni N, Cavaletti G, Lauria G, von Eckardstein A, Hornemann T.

Diabetes. 2014 Oct 2. pii: DB_141325. [Epub ahead of print]

PMID:
25277395
[PubMed - as supplied by publisher]
13.

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.

PMID:
20920666
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

The external aldimine form of serine palmitoyltransferase: structural, kinetic, and spectroscopic analysis of the wild-type enzyme and HSAN1 mutant mimics.

Raman MC, Johnson KA, Yard BA, Lowther J, Carter LG, Naismith JH, Campopiano DJ.

J Biol Chem. 2009 Jun 19;284(25):17328-39. doi: 10.1074/jbc.M109.008680. Epub 2009 Apr 17.

PMID:
19376777
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

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.

PMID:
11781309
[PubMed - indexed for MEDLINE]
Free Article
16.

Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2.

Murphy SM, Ernst D, Wei Y, Laurà M, Liu YT, Polke J, Blake J, Winer J, Houlden H, Hornemann T, Reilly MM.

Neurology. 2013 Jun 4;80(23):2106-11. doi: 10.1212/WNL.0b013e318295d789. Epub 2013 May 8.

PMID:
23658386
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

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
[PubMed - indexed for MEDLINE]
18.

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
[PubMed - indexed for MEDLINE]
19.

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
[PubMed - indexed for MEDLINE]
20.

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.

PMID:
23454272
[PubMed - indexed for MEDLINE]
Free PMC Article

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