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Items: 1 to 20 of 58

1.

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. doi: 10.1016/j.ymgme.2018.05.006. Epub 2018 Jun 2.

PMID:
29895405
2.

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. doi: 10.1007/s11011-017-0058-5. Epub 2017 Jun 29.

PMID:
28664505
3.

Decreased expression of ALDH5A1 predicts prognosis in patients with ovarian cancer.

Tian X, Han Y, Yu L, Luo B, Hu Z, Li X, Yang Z, Wang X, Huang W, Wang H, Zhang Q, Ma D.

Cancer Biol Ther. 2017 Apr 3;18(4):245-251. doi: 10.1080/15384047.2017.1295175. Epub 2017 Mar 27.

4.

[Identification of ALDH5A1 gene mutations in a Chinese family affected with succinic semialdehyde dehydrogenase deficiency].

Shu J, Cai F, Fan W, Meng Y, Zhang C, Cai C, Zhang Y, Lin S.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Feb 10;34(1):6-9. doi: 10.3760/cma.j.issn.1003-9406.2017.01.002. Chinese.

PMID:
28186584
5.

Modeling conformational redox-switch modulation of human succinic semialdehyde dehydrogenase.

Tamazian G, Ho Chang J, Knyazev S, Stepanov E, Kim KJ, Porozov Y.

Proteins. 2015 Dec;83(12):2217-29. doi: 10.1002/prot.24937. Epub 2015 Oct 27.

PMID:
26422261
6.

Inherited disorders of gamma-aminobutyric acid metabolism and advances in ALDH5A1 mutation identification.

Pearl PL, Parviz M, Vogel K, Schreiber J, Theodore WH, Gibson KM.

Dev Med Child Neurol. 2015 Jul;57(7):611-617. doi: 10.1111/dmcn.12668. Epub 2014 Dec 29. Review.

7.

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
8.

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
9.

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
10.

[Analysis of ALDH5A1 gene mutation in a Chinese Han family with succinic semialdehyde dehydrogenase deficiency].

Jiang SZ, Shu JB, Zhang YQ, Fan WX, Meng YT, Song L.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Aug;30(4):389-93. doi: 10.3760/cma.j.issn.1003-9406.2013.04.002. Chinese.

PMID:
23926001
11.

[Succinic semialdehyde dehydrogenase deficiency: an inheritable neurometabolic disease].

Gahr M, Connemann BJ, Schönfeldt-Lecuona CJ, Freudenmann RW.

Fortschr Neurol Psychiatr. 2013 Mar;81(3):154-61. doi: 10.1055/s-0032-1330544. Epub 2013 Mar 20. Review. German.

PMID:
23516105
12.

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
13.

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.

14.

Cerebellar atrophy in human and murine succinic semialdehyde dehydrogenase deficiency.

Acosta MT, Munasinghe J, Pearl PL, Gupta M, Finegersh A, Gibson KM, Theodore WH.

J Child Neurol. 2010 Dec;25(12):1457-61. doi: 10.1177/0883073810368137. Epub 2010 May 5.

15.

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.

16.

Succinic Semialdehyde Dehydrogenase Deficiency.

Pearl PL, Wiwattanadittakul N, Roullet JB, Gibson KM.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2004 May 5 [updated 2016 Apr 28].

17.

Decreased GABA-A binding on FMZ-PET in succinic semialdehyde dehydrogenase deficiency.

Pearl PL, Gibson KM, Quezado Z, Dustin I, Taylor J, Trzcinski S, Schreiber J, Forester K, Reeves-Tyer P, Liew C, Shamim S, Herscovitch P, Carson R, Butman J, Jakobs C, Theodore W.

Neurology. 2009 Aug 11;73(6):423-9. doi: 10.1212/WNL.0b013e3181b163a5.

18.

Redox-switch modulation of human SSADH by dynamic catalytic loop.

Kim YG, Lee S, Kwon OS, Park SY, Lee SJ, Park BJ, Kim KJ.

EMBO J. 2009 Apr 8;28(7):959-68. doi: 10.1038/emboj.2009.40. Epub 2009 Mar 19.

19.

Cognitive functioning and survival in the elderly: the SSADH C538T polymorphism.

De Rango F, Leone O, Dato S, Novelletto A, Bruni AC, Berardelli M, Mari V, Feraco E, Passarino G, De Benedictis G.

Ann Hum Genet. 2008 Sep;72(Pt 5):630-5. doi: 10.1111/j.1469-1809.2008.00450.x. Epub 2008 May 23.

20.

Candidate gene analysis of the succinic semialdehyde dehydrogenase gene (ALDH5A1) in patients with idiopathic generalized epilepsy and photosensitivity.

Lorenz S, Heils A, Taylor KP, Gehrmann A, Muhle H, Gresch M, Becker T, Tauer U, Stephani U, Sander T.

Neurosci Lett. 2006 Apr 24;397(3):234-9. Epub 2006 Jan 6.

PMID:
16406321

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