BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

245 related articles for article (PubMed ID: 19040727)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 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. 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]  

  • 6. Clinical diagnosis and mutation analysis of four Chinese families with succinic semialdehyde dehydrogenase deficiency.
    Wang P; Cai F; Cao L; Wang Y; Zou Q; Zhao P; Wang C; Zhang Y; Cai C; Shu J
    BMC Med Genet; 2019 May; 20(1):88. PubMed ID: 31117962
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Altered cerebral glucose and acetate metabolism in succinic semialdehyde dehydrogenase-deficient mice: evidence for glial dysfunction and reduced glutamate/glutamine cycling.
    Chowdhury GM; Gupta M; Gibson KM; Patel AB; Behar KL
    J Neurochem; 2007 Dec; 103(5):2077-91. PubMed ID: 17854388
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Succinic semialdehyde dehydrogenase: biochemical-molecular-clinical disease mechanisms, redox regulation, and functional significance.
    Kim KJ; Pearl PL; Jensen K; Snead OC; Malaspina P; Jakobs C; Gibson KM
    Antioxid Redox Signal; 2011 Aug; 15(3):691-718. PubMed ID: 20973619
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Succinic semialdehyde dehydrogenase deficiency (SSADHD): Pathophysiological complexity and multifactorial trait associations in a rare monogenic disorder of GABA metabolism.
    Malaspina P; Roullet JB; Pearl PL; Ainslie GR; Vogel KR; Gibson KM
    Neurochem Int; 2016 Oct; 99():72-84. PubMed ID: 27311541
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Enzyme Replacement Therapy for Succinic Semialdehyde Dehydrogenase Deficiency: Relevance in γ-Aminobutyric Acid Plasticity.
    Lee HHC; Pearl PL; Rotenberg A
    J Child Neurol; 2021 Nov; 36(13-14):1200-1209. PubMed ID: 33624531
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Rett syndrome (MECP2) and succinic semialdehyde dehydrogenase (ALDH5A1) deficiency in a developmentally delayed female.
    Brown M; Ashcraft P; Arning E; Bottiglieri T; McClintock W; Giancola F; Lieberman D; Hauser NS; Miller R; Roullet JB; Pearl P; Gibson KM
    Mol Genet Genomic Med; 2019 May; 7(5):e629. PubMed ID: 30829465
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. mTOR inhibitors rescue premature lethality and attenuate dysregulation of GABAergic/glutamatergic transcription in murine succinate semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism.
    Vogel KR; Ainslie GR; Gibson KM
    J Inherit Metab Dis; 2016 Nov; 39(6):877-886. PubMed ID: 27518770
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Therapeutic intervention in mice deficient for succinate semialdehyde dehydrogenase (gamma-hydroxybutyric aciduria).
    Gupta M; Greven R; Jansen EE; Jakobs C; Hogema BM; Froestl W; Snead OC; Bartels H; Grompe M; Gibson KM
    J Pharmacol Exp Ther; 2002 Jul; 302(1):180-7. PubMed ID: 12065715
    [TBL] [Abstract][Full Text] [Related]  

  • 17. SSADH deficiency in an Italian family: a novel ALDH5A1 gene mutation affecting the succinic semialdehyde substrate binding site.
    Leo S; Capo C; Ciminelli BM; Iacovelli F; Menduti G; Funghini S; Donati MA; Falconi M; Rossi L; Malaspina P
    Metab Brain Dis; 2017 Oct; 32(5):1383-1388. PubMed ID: 28664505
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20. Focal neurometabolic alterations in mice deficient for succinate semialdehyde dehydrogenase.
    Gibson KM; Schor DS; Gupta M; Guerand WS; Senephansiri H; Burlingame TG; Bartels H; Hogema BM; Bottiglieri T; Froestl W; Snead OC; Grompe M; Jakobs C
    J Neurochem; 2002 Apr; 81(1):71-9. PubMed ID: 12067239
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.