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Items: 1 to 20 of 109

1.

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.

2.

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.

3.

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.

PMID:
26681808
4.

The structure of serine palmitoyltransferase; gateway to sphingolipid biosynthesis.

Yard BA, Carter LG, Johnson KA, Overton IM, Dorward M, Liu H, McMahon SA, Oke M, Puech D, Barton GJ, Naismith JH, Campopiano DJ.

J Mol Biol. 2007 Jul 27;370(5):870-86. Epub 2007 May 10.

PMID:
17559874
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.

6.

Structural, mechanistic and regulatory studies of serine palmitoyltransferase.

Lowther J, Naismith JH, Dunn TM, Campopiano DJ.

Biochem Soc Trans. 2012 Jun 1;40(3):547-54. doi: 10.1042/BST20110769. Review.

PMID:
22616865
7.

Reconstitution of the pyridoxal 5'-phosphate (PLP) dependent enzyme serine palmitoyltransferase (SPT) with pyridoxal reveals a crucial role for the phosphate during catalysis.

Beattie AE, Clarke DJ, Wadsworth JM, Lowther J, Sin HL, Campopiano DJ.

Chem Commun (Camb). 2013 Aug 14;49(63):7058-60. doi: 10.1039/c3cc43001d.

PMID:
23814788
8.

Novel HSAN1 mutation in serine palmitoyltransferase resides at a putative phosphorylation site that is involved in regulating substrate specificity.

Ernst D, Murphy SM, Sathiyanadan K, Wei Y, Othman A, Laurá M, Liu YT, Penno A, Blake J, Donaghy M, Houlden H, Reilly MM, Hornemann T.

Neuromolecular Med. 2015 Mar;17(1):47-57. doi: 10.1007/s12017-014-8339-1. Epub 2015 Jan 8.

9.

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.

10.
11.

Serine palmitoyltransferase, a key enzyme of sphingolipid metabolism.

Hanada K.

Biochim Biophys Acta. 2003 Jun 10;1632(1-3):16-30. Review. Erratum in: Biochim Biophys Acta. 2004 Jun 1;1682(1-3):128.

PMID:
12782147
12.

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.

13.

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
14.

Inhibition of the PLP-dependent enzyme serine palmitoyltransferase by cycloserine: evidence for a novel decarboxylative mechanism of inactivation.

Lowther J, Yard BA, Johnson KA, Carter LG, Bhat VT, Raman MC, Clarke DJ, Ramakers B, McMahon SA, Naismith JH, Campopiano DJ.

Mol Biosyst. 2010 Sep;6(9):1682-93. doi: 10.1039/c003743e. Epub 2010 May 5. Erratum in: Mol Biosyst. 2011 Dec;7(12):3375.

15.
16.

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.

17.

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.

18.

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.

19.

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.

20.

Bacterial serine palmitoyltransferase: a water-soluble homodimeric prototype of the eukaryotic enzyme.

Ikushiro H, Hayashi H, Kagamiyama H.

Biochim Biophys Acta. 2003 Apr 11;1647(1-2):116-20. Review.

PMID:
12686119

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