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Items: 20

1.

In vitro toxicological evaluation of NCS-382, a high-affinity antagonist of γ-hydroxybutyrate (GHB) binding.

Vogel KR, Ainslie GR, Roullet JB, McConnell A, Gibson KM.

Toxicol In Vitro. 2017 Apr;40:196-202. doi: 10.1016/j.tiv.2017.01.013. Epub 2017 Jan 22.

PMID:
28119166
2.

Polymorphisms of ABAT, SCN2A and ALDH5A1 may affect valproic acid responses in the treatment of epilepsy in Chinese.

Li X, Zhang J, Wu X, Yan H, Zhang Y, He RH, Tang YJ, He YJ, Tan D, Mao XY, Yin JY, Liu ZQ, Zhou HH, Liu J.

Pharmacogenomics. 2016 Dec;17(18):2007-2014. Epub 2016 Dec 5.

PMID:
27918244
3.

Neuroinformatics analyses reveal GABAt and SSADH as major proteins involved in anticonvulsant activity of valproic acid.

Piplani S, Verma PK, Kumar A.

Biomed Pharmacother. 2016 Jul;81:402-10. doi: 10.1016/j.biopha.2016.04.036. Epub 2016 Apr 27.

PMID:
27261619
4.

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. doi: 10.1016/j.braindev.2016.03.008. Epub 2016 Apr 4.

PMID:
27056292
5.

Succinic semialdehyde dehydrogenase deficiency of four Chinese patients and prenatal diagnosis for three fetuses.

Li X, Ding Y, Liu Y, Zhang Y, Song J, Wang Q, Li M, Qin Y, Huang S, Yang Y.

Gene. 2015 Dec 10;574(1):41-7. doi: 10.1016/j.gene.2015.07.078. Epub 2015 Jul 26. Erratum in: Gene. 2016 Apr 15;580(2):184.

PMID:
26220405
6.

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 1;44(4):441-51. doi: 10.1515/jpm-2014-0164. Review.

PMID:
25431891
7.

A novel mutation of ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiency.

Lin CY, Weng WC, Lee WT.

J Child Neurol. 2015 Mar;30(4):486-9. doi: 10.1177/0883073814544365. Epub 2014 Sep 22.

PMID:
25246302
8.

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. doi: 10.1177/0883073814540523. Epub 2014 Aug 13.

PMID:
25122112
10.

Suggestive association with ocular phoria at chromosome 6p22.

Bosten JM, Hogg RE, Bargary G, Goodbourn PT, Lawrance-Owen AJ, Mollon JD.

Invest Ophthalmol Vis Sci. 2014 Jan 20;55(1):345-52. doi: 10.1167/iovs.13-12879.

PMID:
24327614
11.

ALDH5A1 variability in opioid dependent patients could influence response to methadone treatment.

Fonseca F, Gratacòs M, Escaramís G, De Cid R, Martín-Santos R, Farré M, Estivill X, Torrens M.

Eur Neuropsychopharmacol. 2014 Mar;24(3):420-4. doi: 10.1016/j.euroneuro.2013.10.003. Epub 2013 Oct 18.

PMID:
24230997
12.

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. doi: 10.1002/ajmg.a.36030. Epub 2013 Jul 4.

PMID:
23825041
13.

RNA-Seq of human breast ductal carcinoma in situ models reveals aldehyde dehydrogenase isoform 5A1 as a novel potential target.

Kaur H, Mao S, Li Q, Sameni M, Krawetz SA, Sloane BF, Mattingly RR.

PLoS One. 2012;7(12):e50249. doi: 10.1371/journal.pone.0050249. Epub 2012 Dec 6.

14.

Most reported genetic associations with general intelligence are probably false positives.

Chabris CF, Hebert BM, Benjamin DJ, Beauchamp J, Cesarini D, van der Loos M, Johannesson M, Magnusson PK, Lichtenstein P, Atwood CS, Freese J, Hauser TS, Hauser RM, Christakis N, Laibson D.

Psychol Sci. 2012;23(11):1314-23. doi: 10.1177/0956797611435528. Epub 2012 Sep 24.

15.

A novel ALDH5A1 mutation in a patient with succinic semialdehyde dehydrogenase deficiency.

Kwok JS, Yuen CL, Law LK, Tang NL, Cherk SW, Yuen YP.

Pathology. 2012 Apr;44(3):280-2. doi: 10.1097/PAT.0b013e32835140c2. No abstract available.

PMID:
22437753
16.

When do we need to perform a diagnostic lumbar puncture for neurometabolic diseases? Positive yield and retrospective analysis from a tertiary center.

Haliloğlu G, Vezir E, Baydar L, Onol S, Sivri S, Coşkun T, Topçu M.

Turk J Pediatr. 2012 Jan-Feb;54(1):52-8.

PMID:
22397043
17.

Promoter variants determine γ-aminobutyric acid homeostasis-related gene transcription in human epileptic hippocampi.

Pernhorst K, Raabe A, Niehusmann P, van Loo KM, Grote A, Hoffmann P, Cichon S, Sander T, Schoch S, Becker AJ.

J Neuropathol Exp Neurol. 2011 Dec;70(12):1080-8. doi: 10.1097/NEN.0b013e318238b9af.

PMID:
22082659
18.

A boy with a severe phenotype of succinic semialdehyde dehydrogenase deficiency.

Yamakawa Y, Nakazawa T, Ishida A, Saito N, Komatsu M, Matsubara T, Obinata K, Hirose S, Okumura A, Shimizu T.

Brain Dev. 2012 Feb;34(2):107-12. doi: 10.1016/j.braindev.2011.05.003. Epub 2011 May 25.

PMID:
21612881
19.

Familial 6p22.2 duplication associates with mild developmental delay and increased SSADH activity.

Siggberg L, Mustonen A, Schuit R, Salomons GS, Roos B, Gibson KM, Jakobs C, Ignatius J, Knuutila S.

Am J Med Genet B Neuropsychiatr Genet. 2011 Jun;156B(4):448-53. doi: 10.1002/ajmg.b.31180. Epub 2011 Mar 22.

20.

Effect of gene dosage on single-cell hippocampal electrophysiology in a murine model of SSADH deficiency (gamma-hydroxybutyric aciduria).

Dósa Z, Nieto-Gonzalez JL, Korshoej AR, Gibson KM, Jensen K.

Epilepsy Res. 2010 Jun;90(1-2):39-46. doi: 10.1016/j.eplepsyres.2010.03.005. Epub 2010 Apr 3.

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