Similar articles for PMID: 17457693

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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. Knerr I, et al. J Inherit Metab Dis. 2007 Jun;30(3):279-94. doi: 10.1007/s10545-007-0574-2. Epub 2007 Apr 24. J Inherit Metab Dis. 2007. PMID: 17457693

2

Temporal metabolomics in dried bloodspots suggests multipathway disruptions in aldh5a1^-/- mice, a model of succinic semialdehyde dehydrogenase deficiency.

Brown M, Turgeon C, Rinaldo P, Roullet JB, Gibson KM. Brown M, et al. Mol Genet Metab. 2019 Dec;128(4):397-408. doi: 10.1016/j.ymgme.2019.10.003. Epub 2019 Oct 31. Mol Genet Metab. 2019. PMID: 31699650 Review.

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. Leo S, et al. Metab Brain Dis. 2017 Oct;32(5):1383-1388. doi: 10.1007/s11011-017-0058-5. Epub 2017 Jun 29. Metab Brain Dis. 2017. PMID: 28664505

4

A Missense Variant in ALDH5A1 Associated with Canine Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD) in the Saluki Dog.

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. Vernau KM, et al. Genes (Basel). 2020 Sep 2;11(9):1033. doi: 10.3390/genes11091033. Genes (Basel). 2020. PMID: 32887425 Free PMC article.

5

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. Gupta M, et al. J Pharmacol Exp Ther. 2002 Jul;302(1):180-7. doi: 10.1124/jpet.302.1.180. J Pharmacol Exp Ther. 2002. PMID: 12065715

6

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. Brown MN, et al. J Inherit Metab Dis. 2019 Sep;42(5):1030-1039. doi: 10.1002/jimd.12107. Epub 2019 May 29. J Inherit Metab Dis. 2019. PMID: 31032972

7

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. Jansen EE, et al. BMC Dev Biol. 2008 Nov 28;8:112. doi: 10.1186/1471-213X-8-112. BMC Dev Biol. 2008. PMID: 19040727 Free PMC article.

8

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. Malaspina P, et al. Neurochem Int. 2016 Oct;99:72-84. doi: 10.1016/j.neuint.2016.06.009. Epub 2016 Jun 14. Neurochem Int. 2016. PMID: 27311541 Free PMC article. Review.

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. Wang P, et al. BMC Med Genet. 2019 May 22;20(1):88. doi: 10.1186/s12881-019-0821-z. BMC Med Genet. 2019. PMID: 31117962 Free PMC article.

10

Murine succinate semialdehyde dehydrogenase (SSADH) deficiency, a heritable disorder of GABA metabolism with epileptic phenotype.

Gibson KM, Jakobs C, Pearl PL, Snead OC. Gibson KM, et al. IUBMB Life. 2005 Sep;57(9):639-44. doi: 10.1080/15216540500264588. IUBMB Life. 2005. PMID: 16203683 Free article. Review.

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