BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

169 related articles for article (PubMed ID: 19168117)

  • 1. The effects of a ketogenic diet on ATP concentrations and the number of hippocampal mitochondria in Aldh5a1(-/-) mice.
    Nylen K; Velazquez JL; Sayed V; Gibson KM; Burnham WM; Snead OC
    Biochim Biophys Acta; 2009 Mar; 1790(3):208-12. PubMed ID: 19168117
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A ketogenic diet rescues the murine succinic semialdehyde dehydrogenase deficient phenotype.
    Nylen K; Velazquez JL; Likhodii SS; Cortez MA; Shen L; Leshchenko Y; Adeli K; Gibson KM; Burnham WM; Snead OC
    Exp Neurol; 2008 Apr; 210(2):449-57. PubMed ID: 18199435
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Enzymatic and metabolic evidence for a region specific mitochondrial dysfunction in brains of murine succinic semialdehyde dehydrogenase deficiency (Aldh5a1-/- mice).
    Sauer SW; Kölker S; Hoffmann GF; Ten Brink HJ; Jakobs C; Gibson KM; Okun JG
    Neurochem Int; 2007 Mar; 50(4):653-9. PubMed ID: 17303287
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Maternal glutamine supplementation in murine succinic semialdehyde dehydrogenase deficiency, a disorder of γ-aminobutyric acid metabolism.
    Brown MN; Walters DC; Schmidt MA; Hill J; McConnell A; Jansen EEW; Salomons GS; Arning E; Bottiglieri T; Gibson KM; Roullet JB
    J Inherit Metab Dis; 2019 Sep; 42(5):1030-1039. PubMed ID: 31032972
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Circadian distribution of generalized tonic-clonic seizures associated with murine succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism.
    Stewart LS; Nylen KJ; Persinger MA; Cortez MA; Gibson KM; Snead OC
    Epilepsy Behav; 2008 Aug; 13(2):290-4. PubMed ID: 18514581
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Temporal metabolomics in dried bloodspots suggests multipathway disruptions in aldh5a1
    Brown M; Turgeon C; Rinaldo P; Roullet JB; Gibson KM
    Mol Genet Metab; 2019 Dec; 128(4):397-408. PubMed ID: 31699650
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Therapeutic concepts in succinate semialdehyde dehydrogenase (SSADH; ALDH5a1) deficiency (gamma-hydroxybutyric aciduria). Hypotheses evolved from 25 years of patient evaluation, studies in Aldh5a1-/- mice and characterization of gamma-hydroxybutyric acid pharmacology.
    Knerr I; Pearl PL; Bottiglieri T; Snead OC; Jakobs C; Gibson KM
    J Inherit Metab Dis; 2007 Jun; 30(3):279-94. PubMed ID: 17457693
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Neurotransmitter alterations in embryonic succinate semialdehyde dehydrogenase (SSADH) deficiency suggest a heightened excitatory state during development.
    Jansen EE; Struys E; Jakobs C; Hager E; Snead OC; Gibson KM
    BMC Dev Biol; 2008 Nov; 8():112. PubMed ID: 19040727
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A Missense Variant in
    Vernau KM; Struys E; Letko A; Woolard KD; Aguilar M; Brown EA; Cissell DD; Dickinson PJ; Shelton GD; Broome MR; Gibson KM; Pearl PL; König F; Van Winkle TJ; O'Brien D; Roos B; Matiasek K; Jagannathan V; Drögemüller C; Mansour TA; Brown CT; Bannasch DL
    Genes (Basel); 2020 Sep; 11(9):. PubMed ID: 32887425
    [TBL] [Abstract][Full Text] [Related]  

  • 10. In vitro modeling of experimental succinic semialdehyde dehydrogenase deficiency (SSADHD) using brain-derived neural stem cells.
    Vogel KR; Ainslie GR; Jansen EE; Salomons GS; Roullet JB; Gibson KM
    PLoS One; 2017; 12(10):e0186919. PubMed ID: 29053743
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Therapeutic relevance of mTOR inhibition in murine succinate semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism.
    Vogel KR; Ainslie GR; Jansen EE; Salomons GS; Gibson KM
    Biochim Biophys Acta Mol Basis Dis; 2017 Jan; 1863(1):33-42. PubMed ID: 27760377
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Succinic semialdehyde dehydrogenase deficiency: The combination of a novel ALDH5A1 gene mutation and a missense SNP strongly affects SSADH enzyme activity and stability.
    Menduti G; Biamino E; Vittorini R; Vesco S; Puccinelli MP; Porta F; Capo C; Leo S; Ciminelli BM; Iacovelli F; Spada M; Falconi M; Malaspina P; Rossi L
    Mol Genet Metab; 2018 Jul; 124(3):210-215. PubMed ID: 29895405
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Lipid abnormalities in succinate semialdehyde dehydrogenase (Aldh5a1-/-) deficient mouse brain provide additional evidence for myelin alterations.
    Barcelo-Coblijn G; Murphy EJ; Mills K; Winchester B; Jakobs C; Snead OC; Gibson KM
    Biochim Biophys Acta; 2007 May; 1772(5):556-62. PubMed ID: 17300923
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Succinic semialdehyde dehydrogenase deficiency: GABAB receptor-mediated function.
    Buzzi A; Wu Y; Frantseva MV; Perez Velazquez JL; Cortez MA; Liu CC; Shen LQ; Gibson KM; Snead OC
    Brain Res; 2006 May; 1090(1):15-22. PubMed ID: 16647690
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Mutation analysis and prenatal diagnosis in a Chinese family with succinic semialdehyde dehydrogenase and a systematic review of the literature of reported ALDH5A1 mutations.
    Liu N; Kong XD; Kan QC; Shi HR; Wu QH; Zhuo ZH; Bai QL; Jiang M
    J Perinat Med; 2016 May; 44(4):441-51. PubMed ID: 25431891
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Functional analysis of thirty-four suspected pathogenic missense variants in ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiency.
    Pop A; Smith DEC; Kirby T; Walters D; Gibson KM; Mahmoudi S; van Dooren SJM; Kanhai WA; Fernandez-Ojeda MR; Wever EJM; Koster J; Waterham HR; Grob B; Roos B; Wamelink MMC; Chen J; Natesan S; Salomons GS
    Mol Genet Metab; 2020 Jul; 130(3):172-178. PubMed ID: 32402538
    [TBL] [Abstract][Full Text] [Related]  

  • 17. SSADH Variants Increase Susceptibility of U87 Cells to Mitochondrial Pro-Oxidant Insult.
    Menduti G; Vitaliti A; Capo CR; Lettieri-Barbato D; Aquilano K; Malaspina P; Rossi L
    Int J Mol Sci; 2020 Jun; 21(12):. PubMed ID: 32575506
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Comparative genomics of aldehyde dehydrogenase 5a1 (succinate semialdehyde dehydrogenase) and accumulation of gamma-hydroxybutyrate associated with its deficiency.
    Malaspina P; Picklo MJ; Jakobs C; Snead OC; Gibson KM
    Hum Genomics; 2009 Jan; 3(2):106-20. PubMed ID: 19164088
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Pharmacologic rescue of lethal seizures in mice deficient in succinate semialdehyde dehydrogenase.
    Hogema BM; Gupta M; Senephansiri H; Burlingame TG; Taylor M; Jakobs C; Schutgens RB; Froestl W; Snead OC; Diaz-Arrastia R; Bottiglieri T; Grompe M; Gibson KM
    Nat Genet; 2001 Oct; 29(2):212-6. PubMed ID: 11544478
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Toxicologic/transport properties of NCS-382, a γ-hydroxybutyrate (GHB) receptor ligand, in neuronal and epithelial cells: Therapeutic implications for SSADH deficiency, a GABA metabolic disorder.
    Vogel KR; Ainslie GR; McConnell A; Roullet JB; Gibson KM
    Toxicol In Vitro; 2018 Feb; 46():203-212. PubMed ID: 29031482
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.