These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

313 related articles for article (PubMed ID: 22045570)

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

  • 2. The debut of a rational treatment for an inherited neuropathy?
    Scherer SS
    J Clin Invest; 2011 Dec; 121(12):4624-7. PubMed ID: 22045569
    [TBL] [Abstract][Full Text] [Related]  

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

  • 4. 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]  

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

  • 6. 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]  

  • 7. 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]  

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

  • 9. 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; 2015 Mar; 64(3):1035-45. PubMed ID: 25277395
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory Neuropathy.
    Suriyanarayanan S; Auranen M; Toppila J; Paetau A; Shcherbii M; Palin E; Wei Y; Lohioja T; Schlotter-Weigel B; Schön U; Abicht A; Rautenstrauss B; Tyynismaa H; Walter MC; Hornemann T; Ylikallio E
    Neuromolecular Med; 2016 Mar; 18(1):81-90. PubMed ID: 26573920
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Functional and Molecular Characterization of New
    Rochat J; Blavier A; Ruet S; Vasseur S; Puma A; Desnous B; Chan V; Delmont E; Attarian S; Juntas Morales R; Quadrio I; Vidoni L; Bonello-Palot N; Cheillan D
    Genes (Basel); 2024 May; 15(6):. PubMed ID: 38927628
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment.
    Fiorillo C; Capodivento G; Geroldi A; Tozza S; Moroni I; Mohassel P; Cataldi M; Campana C; Morando S; Panicucci C; Pedemonte M; Brolatti N; Siliquini S; Traverso M; Baratto S; Debellis D; Magri S; Prada V; Bellone E; Salpietro V; Donkervoort S; Gable K; Gupta SD; Dunn TM; Bönnemann CG; Taroni F; Bruno C; Schenone A; Mandich P; Nobbio L; Nolano M
    Neuropathol Appl Neurobiol; 2022 Dec; 48(7):e12842. PubMed ID: 35904184
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Substrate Availability of Mutant SPT Alters Neuronal Branching and Growth Cone Dynamics in Dorsal Root Ganglia.
    Jun BK; Chandra A; Kuljis D; Schmidt BP; Eichler FS
    J Neurosci; 2015 Oct; 35(40):13713-9. PubMed ID: 26446223
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. Randomized trial of l-serine in patients with hereditary sensory and autonomic neuropathy type 1.
    Fridman V; Suriyanarayanan S; Novak P; David W; Macklin EA; McKenna-Yasek D; Walsh K; Aziz-Bose R; Oaklander AL; Brown R; Hornemann T; Eichler F
    Neurology; 2019 Jan; 92(4):e359-e370. PubMed ID: 30626650
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 16.