| 1 | ADSL, ADSLD
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| Pathway-specific effects of ADSL deficiency on neurodevelopment.
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| Dutto I, Gerhards J, Herrera A, Souckova O, kopová V, Smak JA, Junza A, Yanes O, Boeckx C, Burkhalter MD, Zikánová M, Pons S, Philipp M, Lüders J, Stracker TH.
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| Elife. Feb 8;11:e70518. doi: 10.7554/eLife.70518 2022
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| 2 | ADSL, ADSLD
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| Clinical and molecular characterization of patients with adenylosuccinate lyase deficiency.
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| Mastrogiorgio G, Macchiaiolo M, Buonuomo PS, Bellacchio E, Bordi M, Vecchio D, Brown KP, Watson NK, Contardi B, Cecconi F, Tartaglia M, Bartuli A.
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| Orphanet J Rare Dis. Mar 1;16(1):112. doi: 10.1186/s13023-021-01731-6 2021
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| 3 | ADSL, ADSLD
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| Very mild isolated intellectual disability caused by adenylosuccinate lyase deficiency: a new phenotype.
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| Macchiaiolo M, Buonuomo PS, Mastrogiorgio G, Bordi M, Testa B, Weber G, Bellacchio E, Tartaglia M, Cecconi F, Bartuli A.
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| Mol Genet Metab Rep. May 6;23:100592. doi: 10.1016/j.ymgmr.2020.100592. 2020
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| 4 | ADSL, ADSLD
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| Biochemical and structural analysis of 14 mutant adsl enzyme complexes and correlation to phenotypic heterogeneity of adenylosuccinate lyase deficiency.
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| Zikanova M, Skopova V, Hnizda A, Krijt J, Kmoch S.
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| Hum Mutat. Apr;31(4):445-55. doi: 10.1002/humu.21212. 2010
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| 5 | ADSL, ADSLD, AS
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| Misleading behavioural phenotype with adenylosuccinate lyase deficiency.
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| Gitiaux C, Ceballos-Picot I, Marie S, Valayannopoulos V, Rio M, Verrieres S, Benoist JF, Vincent MF, Desguerre I, Bahi-Buisson N.
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| Eur J Hum Genet 17(1):133-6. Epub 2008 Oct 1. 2009
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| 6 | ADSL, ADSLD
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| Two novel mutant human adenylosuccinate lyases (ASLs) associated with autism and characterization of the equivalent mutant Bacillus subtilis ASL.
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| Sivendran S, Patterson D, Spiegel E, McGown I, Cowley D, Colman RF.
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| J Biol Chem 279(51):53789-97. Epub 2004 Oct 7. 2004
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| 7 | ADSL, ADSLD
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| Adenylosuccinate lyase deficiency--first British case.
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| Marinaki AM, Champion M, Kurian MA, Simmonds HA, Marie S, Vincent MF, van den Berghe G, Duley JA, Fairbanks LD.
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| Nucleosides Nucleotides Nucleic Acids 23(8-9):1231-3. 2004
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| 8 | ADSL, ADSLD
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| 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.
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| Marie S, Race V, Nassogne MC, Vincent MF, Van den Berghe G.
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| Am J Hum Genet 71(1):14-21. 2002
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| 9 | ADSL, ADSLD
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| 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.
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| Kmoch S, Hartmannova H, Stiburkova B, Krijt J, Zikanova M, Sebesta I.
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| Hum Mol Genet 9(10):1501-13. 2000
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| 10 | ADSL, ADSLD
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| Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency.
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| Race V, Marie S, Vincent MF, Van Den Berghe G.
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| Hum Mol Genet 9(14):2159-65. 2000
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| 11 | ADSL, ADSLD
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| A mutation in adenylosuccinate lyase associated with mental retardation and autistic features.
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| Stone RL, et al.
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| Nat Genet 1 : 59-63. 1992
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| 12 | ADSL, ADSLD
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| Adenylosuccinase deficiency : an inborn error of purine nucleotide synthesis.
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| Jaeken J, et al.
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| Eur J Pediatr 148 : 126-131. 1988
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| 13 | ADSL, ADSLD
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| An infantile autistic syndrome characterised by the presence of succinylpurines in body fluids.
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| Jaeken J, et al.
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| Lancet II : 1058-1061. 1984
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