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Items: 17


Neuropathological Mechanisms of Seizures in Autism Spectrum Disorder.

Frye RE, Casanova MF, Fatemi SH, Folsom TD, Reutiman TJ, Brown GL, Edelson SM, Slattery JC, Adams JB.

Front Neurosci. 2016 May 10;10:192. doi: 10.3389/fnins.2016.00192. eCollection 2016. Review.


Adenylosuccinate lyase deficiency.

Jurecka A, Zikanova M, Kmoch S, Tylki-Szymańska A.

J Inherit Metab Dis. 2015 Mar;38(2):231-42. doi: 10.1007/s10545-014-9755-y. Epub 2014 Aug 12. Review.


Transition-state inhibitors of purine salvage and other prospective enzyme targets in malaria.

Ducati RG, Namanja-Magliano HA, Schramm VL.

Future Med Chem. 2013 Jul;5(11):1341-60. doi: 10.4155/fmc.13.51. Review.


Structural and biochemical characterization of human adenylosuccinate lyase (ADSL) and the R303C ADSL deficiency-associated mutation.

Ray SP, Deaton MK, Capodagli GC, Calkins LA, Sawle L, Ghosh K, Patterson D, Pegan SD.

Biochemistry. 2012 Aug 21;51(33):6701-13. doi: 10.1021/bi300796y. Epub 2012 Aug 7.


Progress Towards Simple and Direct Detection of Adenylosuccinate Lyase Deficiency in Human Urine.

Lim S, Lowry M, Strongin RM.

Aust J Chem. 2011 Oct 14;64(11):1470-1473.


Molecular and Clinical Aspects of Angelman Syndrome.

Dagli A, Buiting K, Williams CA.

Mol Syndromol. 2012 Apr;2(3-5):100-112. Epub 2011 Jul 28.


Should metabolic diseases be systematically screened in nonsyndromic autism spectrum disorders?

Schiff M, Benoist JF, Aïssaoui S, Boespflug-Tanguy O, Mouren MC, de Baulny HO, Delorme R.

PLoS One. 2011;6(7):e21932. doi: 10.1371/journal.pone.0021932. Epub 2011 Jul 7. Erratum in: PLoS One. 2011;6(8). doi:10.1371/annotation/456e2365-a067-4063-b11b-6a2abeba3f20. Boepsflug-Tanguy, Odile [corrected to Boespflug-Tanguy, Odile].


Exploring metabolic pathway disruption in the subchronic phencyclidine model of schizophrenia with the Generalized Singular Value Decomposition.

Xiao X, Dawson N, Macintyre L, Morris BJ, Pratt JA, Watson DG, Higham DJ.

BMC Syst Biol. 2011 May 16;5:72. doi: 10.1186/1752-0509-5-72.


In vitro hybridization and separation of hybrids of human adenylosuccinate lyase from wild-type and disease-associated mutant enzymes.

De Zoysa Ariyananda L, Antonopoulos C, Currier J, Colman RF.

Biochemistry. 2011 Mar 1;50(8):1336-46. doi: 10.1021/bi101734q. Epub 2011 Feb 3.


Molecular characterization of the AdeI mutant of Chinese hamster ovary cells: a cellular model of adenylosuccinate lyase deficiency.

Vliet LK, Wilkinson TG 2nd, Duval N, Vacano G, Graham C, Zikánová M, Skopova V, Baresova V, Hnízda A, Kmoch S, Patterson D.

Mol Genet Metab. 2011 Jan;102(1):61-8. doi: 10.1016/j.ymgme.2010.08.022. Epub 2010 Sep 6.


Structure of Staphylococcus aureus adenylosuccinate lyase (PurB) and assessment of its potential as a target for structure-based inhibitor discovery.

Fyfe PK, Dawson A, Hutchison MT, Cameron S, Hunter WN.

Acta Crystallogr D Biol Crystallogr. 2010 Aug;66(Pt 8):881-8. doi: 10.1107/S0907444910020081. Epub 2010 Jul 9.


Zebrafish mutations in gart and paics identify crucial roles for de novo purine synthesis in vertebrate pigmentation and ocular development.

Ng A, Uribe RA, Yieh L, Nuckels R, Gross JM.

Development. 2009 Aug;136(15):2601-11. doi: 10.1242/dev.038315. Epub 2009 Jul 1.


Biochemical and biophysical analysis of five disease-associated human adenylosuccinate lyase mutants.

Ariyananda Lde Z, Lee P, Antonopoulos C, Colman RF.

Biochemistry. 2009 Jun 16;48(23):5291-302. doi: 10.1021/bi802321m.


Mutations in the Chinese hamster ovary cell GART gene of de novo purine synthesis.

Knox AJ, Graham C, Bleskan J, Brodsky G, Patterson D.

Gene. 2009 Jan 15;429(1-2):23-30. doi: 10.1016/j.gene.2008.10.007. Epub 2008 Oct 21.


Misleading behavioural phenotype with adenylosuccinate lyase deficiency.

Gitiaux C, Ceballos-Picot I, Marie S, Valayannopoulos V, Rio M, Verrieres S, Benoist JF, Vincent MF, Desguerre I, Bahi-Buisson N.

Eur J Hum Genet. 2009 Jan;17(1):133-6. doi: 10.1038/ejhg.2008.174. Epub 2008 Oct 1.

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