BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

215 related articles for article (PubMed ID: 32402538)

  • 1. 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]  

  • 2. 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]  

  • 3. Succinic Semialdehyde Dehydrogenase Deficiency: In Vitro and In Silico Characterization of a Novel Pathogenic Missense Variant and Analysis of the Mutational Spectrum of
    Brennenstuhl H; Didiasova M; Assmann B; Bertoldi M; Molla G; Jung-Klawitter S; Kuseyri Hübschmann O; Schröter J; Opladen T; Tikkanen R
    Int J Mol Sci; 2020 Nov; 21(22):. PubMed ID: 33203024
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 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. Novel
    DiBacco ML; Pop A; Salomons GS; Hanson E; Roullet JB; Gibson KM; Pearl PL
    Neurology; 2020 Nov; 95(19):e2675-e2682. PubMed ID: 32887777
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Assessing Prevalence and Carrier Frequency of Succinic Semialdehyde Dehydrogenase Deficiency.
    Martin K; McConnell A; Elsea SH
    J Child Neurol; 2021 Nov; 36(13-14):1218-1222. PubMed ID: 34882073
    [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. 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]  

  • 12. SSADH deficiency possibly associated with enzyme activity-reducing SNPs.
    Akiyama T; Osaka H; Shimbo H; Kuhara T; Shibata T; Kobayashi K; Kurosawa K; Yoshinaga H
    Brain Dev; 2016 Oct; 38(9):871-4. PubMed ID: 27056292
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family.
    Püttmann L; Stehr H; Garshasbi M; Hu H; Kahrizi K; Lipkowitz B; Jamali P; Tzschach A; Najmabadi H; Ropers HH; Musante L; Kuss AW
    Am J Med Genet A; 2013 Aug; 161A(8):1915-22. PubMed ID: 23825041
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. 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; 34(5):1515-1518. PubMed ID: 31267348
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Succinic Semialdehyde Dehydrogenase Deficiency in a Chinese Boy: A Novel ALDH5A1 Mutation With Severe Phenotype.
    Tay CG; Ariffin H; Yap S; Rahmat K; Sthaneshwar P; Ong LC
    J Child Neurol; 2015 Jun; 30(7):927-31. PubMed ID: 25122112
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.