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Journal Abstract Search

411 related items for PubMed ID: 17457693

  • 1. 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
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  • 3. 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
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  • 9. 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 22; 20(1):88. PubMed ID: 31117962
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  • 11. Murine succinate semialdehyde dehydrogenase deficiency.
    Gupta M, Hogema BM, Grompe M, Bottiglieri TG, Concas A, Biggio G, Sogliano C, Rigamonti AE, Pearl PL, Snead OC, Jakobs C, Gibson KM.
    Ann Neurol; 2003 May 22; 54 Suppl 6():S81-90. PubMed ID: 12891658
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  • 14. 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 01; 15(3):691-718. PubMed ID: 20973619
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  • 15. 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 01; 130(3):172-178. PubMed ID: 32402538
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  • 16. 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 01; 7(5):e629. PubMed ID: 30829465
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  • 17. 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 01; 46():203-212. PubMed ID: 29031482
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  • 19. Novel mutations in two unrelated Italian patients with SSADH deficiency.
    Balzarini M, Rovelli V, Paci S, Rigoldi M, Sanna G, Pillai S, Asunis M, Parini R, Ciminelli BM, Malaspina P.
    Metab Brain Dis; 2019 Oct 01; 34(5):1515-1518. PubMed ID: 31267348
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  • 20. 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 01; 36(13-14):1200-1209. PubMed ID: 33624531
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