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Items: 1 to 20 of 64

1.

Inherent properties of adenylosuccinate lyase could explain S-Ado/SAICAr ratio due to homozygous R426H and R303C mutations.

Ray SP, Duval N, Wilkinson TG 2nd, Shaheen SE, Ghosh K, Patterson D.

Biochim Biophys Acta. 2013 Aug;1834(8):1545-53. doi: 10.1016/j.bbapap.2013.05.013. Epub 2013 May 25.

PMID:
23714113
2.

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.

3.

Adenylosuccinate lyase deficiency in the United Kingdom pediatric population: first three cases.

Lundy CT, Jungbluth H, Pohl KR, Siddiqui A, Marinaki AM, Mundy H, Champion MP.

Pediatr Neurol. 2010 Nov;43(5):351-4. doi: 10.1016/j.pediatrneurol.2010.06.007.

PMID:
20933180
4.

Adenylosuccinate lyase deficiency in a Malaysian patient, with novel adenylosuccinate lyase gene mutations.

Chen BC, McGown IN, Thong MK, Pitt J, Yunus ZM, Khoo TB, Ngu LH, Duley JA.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S159-62. doi: 10.1007/s10545-010-9056-z. Epub 2010 Feb 23.

PMID:
20177786
5.

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.

6.

D-ribose therapy in four Polish patients with adenylosuccinate lyase deficiency: absence of positive effect.

Jurecka A, Tylki-Szymanska A, Zikanova M, Krijt J, Kmoch S.

J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S329-32. doi: 10.1007/s10545-008-0904-z. Epub 2008 Jul 12.

PMID:
18649008
7.

Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency.

Jurecka A, Zikanova M, Tylki-Szymanska A, Krijt J, Bogdanska A, Gradowska W, Mullerova K, Sykut-Cegielska J, Kmoch S, Pronicka E.

Mol Genet Metab. 2008 Aug;94(4):435-42. doi: 10.1016/j.ymgme.2008.04.013. Epub 2008 Jun 3.

PMID:
18524658
8.

Lethal fetal and early neonatal presentation of adenylosuccinate lyase deficiency: observation of 6 patients in 4 families.

Mouchegh K, Zikánová M, Hoffmann GF, Kretzschmar B, Kühn T, Mildenberger E, Stoltenburg-Didinger G, Krijt J, Dvoráková L, Honzík T, Zeman J, Kmoch S, Rossi R.

J Pediatr. 2007 Jan;150(1):57-61.e2.

PMID:
17188615
9.

Adenylosuccinate lyase deficiency--first British case.

Marinaki AM, Champion M, Kurian MA, Simmonds HA, Marie S, Vincent MF, van den Berghe G, Duley JA, Fairbanks LD.

Nucleosides Nucleotides Nucleic Acids. 2004 Oct;23(8-9):1231-3.

PMID:
15571235
10.

Two novel mutant human adenylosuccinate lyases (ASLs) associated with autism and characterization of the equivalent mutant Bacillus subtilis ASL.

Sivendran S, Patterson D, Spiegel E, McGown I, Cowley D, Colman RF.

J Biol Chem. 2004 Dec 17;279(51):53789-97. Epub 2004 Oct 7.

11.

Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: a report on three patients.

Edery P, Chabrier S, Ceballos-Picot I, Marie S, Vincent MF, Tardieu M.

Am J Med Genet A. 2003 Jul 15;120A(2):185-90.

PMID:
12833398
13.

Screening for adenylosuccinate lyase deficiency: clinical, biochemical and molecular findings in four patients.

Castro M, Pérez-Cerdá C, Merinero B, García MJ, Bernar J, Gil Nagel A, Torres J, Bermúdez M, Garavito P, Marie S, Vincent F, Van den Berghe G, Ugarte M.

Neuropediatrics. 2002 Aug;33(4):186-9.

PMID:
12368987
14.

Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency.

Race V, Marie S, Vincent MF, Van den Berghe G.

Hum Mol Genet. 2000 Sep 1;9(14):2159-65.

PMID:
10958654
15.

Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequence.

Marie S, Cuppens H, Heuterspreute M, Jaspers M, Tola EZ, Gu XX, Legius E, Vincent MF, Jaeken J, Cassiman JJ, Van den Berghe G.

Hum Mutat. 1999;13(3):197-202.

PMID:
10090474
16.

Identification of new mutations in the adenylosuccinate lyase gene associated with impaired enzyme activity in lymphocytes and red blood cells.

Verginelli D, Luckow B, Crifò C, Salerno C, Gross M.

Biochim Biophys Acta. 1998 Feb 27;1406(1):81-4.

17.

Adenylosuccinase deficiency presenting with epilepsy in early infancy.

Maaswinkel-Mooij PD, Laan LA, Onkenhout W, Brouwer OF, Jaeken J, Poorthuis BJ.

J Inherit Metab Dis. 1997 Aug;20(4):606-7. No abstract available.

PMID:
9266401
19.

Mapping of the human adenylosuccinate lyase (ADSL) gene to chromosome 22q13.1-->q13.2.

Fon EA, Demczuk S, Delattre O, Thomas G, Rouleau GA.

Cytogenet Cell Genet. 1993;64(3-4):201-3.

PMID:
8404037
20.

Expression, purification, and kinetic characterization of recombinant human adenylosuccinate lyase.

Stone RL, Zalkin H, Dixon JE.

J Biol Chem. 1993 Sep 15;268(26):19710-6.

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