BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

220 related articles for article (PubMed ID: 26681808)

  • 1. 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; 25(5):853-65. PubMed ID: 26681808
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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. PubMed ID: 25567748
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A Novel Variant (Asn177Asp) in SPTLC2 Causing Hereditary Sensory Autonomic Neuropathy Type 1C.
    Suriyanarayanan S; Othman A; Dräger B; Schirmacher A; Young P; Mulahasanovic L; Hörtnagel K; Biskup S; von Eckardstein A; Hornemann T; Lone MA
    Neuromolecular Med; 2019 Jun; 21(2):182-191. PubMed ID: 30955194
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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. PubMed ID: 21618344
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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. PubMed ID: 24175284
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 285(30):22846-52. PubMed ID: 20504773
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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. PubMed ID: 22045570
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; von Eckardstein A; Hornemann T
    J Biol Chem; 2010 Apr; 285(15):11178-87. PubMed ID: 20097765
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Serine and Lipid Metabolism in Macular Disease and Peripheral Neuropathy.
    Gantner ML; Eade K; Wallace M; Handzlik MK; Fallon R; Trombley J; Bonelli R; Giles S; Harkins-Perry S; Heeren TFC; Sauer L; Ideguchi Y; Baldini M; Scheppke L; Dorrell MI; Kitano M; Hart BJ; Cai C; Nagasaki T; Badur MG; Okada M; Woods SM; Egan C; Gillies M; Guymer R; Eichler F; Bahlo M; Fruttiger M; Allikmets R; Bernstein PS; Metallo CM; Friedlander M
    N Engl J Med; 2019 Oct; 381(15):1422-1433. PubMed ID: 31509666
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Fenofibrate lowers atypical sphingolipids in plasma of dyslipidemic patients: A novel approach for treating diabetic neuropathy?
    Othman A; Benghozi R; Alecu I; Wei Y; Niesor E; von Eckardstein A; Hornemann T
    J Clin Lipidol; 2015; 9(4):568-75. PubMed ID: 26228675
    [TBL] [Abstract][Full Text] [Related]  

  • 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
    J Neurosci; 2009 Nov; 29(46):14646-51. PubMed ID: 19923297
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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
    Hum Mol Genet; 2005 Nov; 14(22):3507-21. PubMed ID: 16210380
    [TBL] [Abstract][Full Text] [Related]  

  • 13. The external aldimine form of serine palmitoyltransferase: structural, kinetic, and spectroscopic analysis of the wild-type enzyme and HSAN1 mutant mimics.
    Raman MCC; Johnson KA; Yard BA; Lowther J; Carter LG; Naismith JH; Campopiano DJ
    J Biol Chem; 2009 Jun; 284(25):17328-17339. PubMed ID: 19376777
    [TBL] [Abstract][Full Text] [Related]  

  • 14. SPTLC1 variants associated with ALS produce distinct sphingolipid signatures through impaired interaction with ORMDL proteins.
    Lone MA; Aaltonen MJ; Zidell A; Pedro HF; Morales Saute JA; Mathew S; Mohassel P; Bönnemann CG; Shoubridge EA; Hornemann T
    J Clin Invest; 2022 Sep; 132(18):. PubMed ID: 35900868
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 80(23):2106-11. PubMed ID: 23658386
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; Holleran WM; Hanada K
    J Clin Invest; 2002 Nov; 110(9):1301-8. PubMed ID: 12417569
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Clinical and metabolic consequences of L-serine supplementation in hereditary sensory and autonomic neuropathy type 1C.
    Auranen M; Toppila J; Suriyanarayanan S; Lone MA; Paetau A; Tyynismaa H; Hornemann T; Ylikallio E
    Cold Spring Harb Mol Case Stud; 2017 Nov; 3(6):. PubMed ID: 29042446
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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. PubMed ID: 23454272
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Specific Deoxyceramide Species Correlate with Expression of Macular Telangiectasia Type 2 (MacTel2) in a SPTLC2 Carrier HSAN1 Family.
    Wilson LMQ; Saba S; Li J; Prasov L; Miller JML
    Genes (Basel); 2023 Apr; 14(4):. PubMed ID: 37107689
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A Model of Hereditary Sensory and Autonomic Neuropathy Type 1 Reveals a Role of Glycosphingolipids in Neuronal Polarity.
    Cui M; Ying R; Jiang X; Li G; Zhang X; Zheng J; Tam KY; Liang B; Shi A; Göbel V; Zhang H
    J Neurosci; 2019 Jul; 39(29):5816-5834. PubMed ID: 31138658
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.