149 related articles for article (PubMed ID: 32621952)
1. Bi-allelic Mutations in ALDH5A1 is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability.
Fattahi M; Bushehri A; Alavi A; Asghariazar V; Nozari A; Ghasemi Firouzabadi S; Motamedian Dehkordi P; Javid M; Farajzadeh Valiliou S; Karimian J; Behjati F
Gene; 2020 Jul; ():144918. PubMed ID: 32621952
[TBL] [Abstract][Full Text] [Related]
2. 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]
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
[TBL] [Abstract][Full Text] [Related]
4. 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]
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. 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. 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]
8. 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]
9. 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]
10. Understanding the Molecular Mechanisms of Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD): Towards the Development of SSADH-Targeted Medicine.
Lee HHC; McGinty GE; Pearl PL; Rotenberg A
Int J Mol Sci; 2022 Feb; 23(5):. PubMed ID: 35269750
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. Intestinal Dysbiosis as a component of pathophysiology in succinic semialdehyde dehydrogenase deficiency (SSADHD).
Kirby TO; Shi X; Walters D; Roullet JB; Gibson KM
Mol Genet Metab; 2022 Jan; 135(1):42-46. PubMed ID: 34896003
[TBL] [Abstract][Full Text] [Related]
14. Targeted screening of succinic semialdehyde dehydrogenase deficiency (SSADHD) employing an enzymatic assay for γ-hydroxybutyric acid (GHB) in biofluids.
Wernli C; Finochiaro S; Volken C; Andresen-Streichert H; Buettler A; Gygax D; Salomons GS; Jansen EE; Ainslie GR; Vogel KR; Gibson KM
Mol Genet Metab Rep; 2017 Jun; 11():81-89. PubMed ID: 28649510
[TBL] [Abstract][Full Text] [Related]
15. Acute Infantile Encephalopathy as Presentation of Succinic Semialdehyde Dehydrogenase Deficiency.
Zeiger WA; Sun LR; Bosemani T; Pearl PL; Stafstrom CE
Pediatr Neurol; 2016 May; 58():113-5. PubMed ID: 27268762
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. 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]
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. Succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism: an update on pharmacological and enzyme-replacement therapeutic strategies.
Vogel KR; Ainslie GR; Walters DC; McConnell A; Dhamne SC; Rotenberg A; Roullet JB; Gibson KM
J Inherit Metab Dis; 2018 Jul; 41(4):699-708. PubMed ID: 29460030
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
