164 related articles for article (PubMed ID: 12016589)
1. Mutation of a nuclear respiratory factor 2 binding site in the 5' untranslated region of the ADSL gene in three patients with adenylosuccinate lyase deficiency.
Marie S; Race V; Nassogne MC; Vincent MF; Van den Berghe G
Am J Hum Genet; 2002 Jul; 71(1):14-21. PubMed ID: 12016589
[TBL] [Abstract][Full Text] [Related]
2. 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; 9(14):2159-65. PubMed ID: 10958654
[TBL] [Abstract][Full Text] [Related]
3. Human adenylosuccinate lyase (ADSL), cloning and characterization of full-length cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients.
Kmoch S; Hartmannová H; Stibůrková B; Krijt J; Zikánová M; Sebesta I
Hum Mol Genet; 2000 Jun; 9(10):1501-13. PubMed ID: 10888601
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 10090474
[TBL] [Abstract][Full Text] [Related]
5. Molecular characterization of the AdeI mutant of Chinese hamster ovary cells: a cellular model of adenylosuccinate lyase deficiency.
Vliet LK; Wilkinson TG; 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. PubMed ID: 20884265
[TBL] [Abstract][Full Text] [Related]
6. 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; 51(33):6701-13. PubMed ID: 22812634
[TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 18830228
[TBL] [Abstract][Full Text] [Related]
8. Preparation of 5-amino-4-imidazole-N-succinocarboxamide ribotide, 5-amino-4-imidazole-N-succinocarboxamide riboside and succinyladenosine, compounds usable in diagnosis and research of adenylosuccinate lyase deficiency.
Zikánová M; Krijt J; Hartmannová H; Kmoch S
J Inherit Metab Dis; 2005; 28(4):493-9. PubMed ID: 15902552
[TBL] [Abstract][Full Text] [Related]
9. Inherent properties of adenylosuccinate lyase could explain S-Ado/SAICAr ratio due to homozygous R426H and R303C mutations.
Ray SP; Duval N; Wilkinson TG; Shaheen SE; Ghosh K; Patterson D
Biochim Biophys Acta; 2013 Aug; 1834(8):1545-53. PubMed ID: 23714113
[TBL] [Abstract][Full Text] [Related]
10. 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):435-442. PubMed ID: 18524658
[TBL] [Abstract][Full Text] [Related]
11. Biochemical and structural analysis of 14 mutant adsl enzyme complexes and correlation to phenotypic heterogeneity of adenylosuccinate lyase deficiency.
Zikanova M; Skopova V; Hnizda A; Krijt J; Kmoch S
Hum Mutat; 2010 Apr; 31(4):445-55. PubMed ID: 20127976
[TBL] [Abstract][Full Text] [Related]
12. Residual adenylosuccinase activities in fibroblasts of adenylosuccinase-deficient children: parallel deficiency with adenylosuccinate and succinyl-AICAR in profoundly retarded patients and non-parallel deficiency in a mildly retarded girl.
Van den Bergh F; Vincent MF; Jaeken J; Van den Berghe G
J Inherit Metab Dis; 1993; 16(2):415-24. PubMed ID: 8412002
[TBL] [Abstract][Full Text] [Related]
13. Adenylosuccinate lyase deficiency.
Jurecka A; Zikanova M; Kmoch S; Tylki-Szymańska A
J Inherit Metab Dis; 2015 Mar; 38(2):231-42. PubMed ID: 25112391
[TBL] [Abstract][Full Text] [Related]
14. Adenylosuccinate lyase (ADSL) and infantile autism: absence of previously reported point mutation.
Fon EA; Sarrazin J; Meunier C; Alarcia J; Shevell MI; Philippe A; Leboyer M; Rouleau GA
Am J Med Genet; 1995 Dec; 60(6):554-7. PubMed ID: 8825895
[TBL] [Abstract][Full Text] [Related]
15. Early diagnosis of adenylosuccinate lyase deficiency using a high-throughput screening method and a trial of oral S-adenosyl-l-methionine as a treatment method.
van Werkhoven MA; Duley JA; McGown I; Munce T; Freeman JL; Pitt JJ
Dev Med Child Neurol; 2013 Nov; 55(11):1060-4. PubMed ID: 23937257
[TBL] [Abstract][Full Text] [Related]
16. Adenylosuccinate lyase deficiency.
Spiegel EK; Colman RF; Patterson D
Mol Genet Metab; 2006; 89(1-2):19-31. PubMed ID: 16839792
[TBL] [Abstract][Full Text] [Related]
17. A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencing.
Macchiaiolo M; Barresi S; Cecconi F; Zanni G; Niceta M; Bellacchio E; Lazzarino G; Amorini AM; Bertini ES; Rizza S; Contardi B; Tartaglia M; Bartuli A
Ital J Pediatr; 2017 Aug; 43(1):65. PubMed ID: 28768552
[TBL] [Abstract][Full Text] [Related]
18. Prenatal diagnosis in adenylosuccinate lyase deficiency.
Marie S; Flipsen JW; Duran M; Poll-The BT; Beemer FA; Bosschaart AN; Vincent MF; Van den Berghe G
Prenat Diagn; 2000 Jan; 20(1):33-6. PubMed ID: 10701848
[TBL] [Abstract][Full Text] [Related]
19. The characterization of mutant Bacillus subtilis adenylosuccinate lyases corresponding to severe human adenylosuccinate lyase deficiencies.
Palenchar JB; Crocco JM; Colman RF
Protein Sci; 2003 Aug; 12(8):1694-705. PubMed ID: 12876319
[TBL] [Abstract][Full Text] [Related]
20. 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. PubMed ID: 20177786
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]