213 related articles for article (PubMed ID: 35133277)
1. Pathway-specific effects of ADSL deficiency on neurodevelopment.
Dutto I; Gerhards J; Herrera A; Souckova O; Škopová V; Smak JA; Junza A; Yanes O; Boeckx C; Burkhalter MD; Zikánová M; Pons S; Philipp M; Lüders J; Stracker TH
Elife; 2022 Feb; 11():. PubMed ID: 35133277
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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. PubMed ID: 15571235
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Adenylosuccinase activity and succinylpurine production in fibroblasts of adenylosuccinase-deficient children.
Van den Bergh F; Vincent MF; Jaeken J; Van den Berghe G
Adv Exp Med Biol; 1991; 309B():277-80. PubMed ID: 1781383
[No Abstract] [Full Text] [Related]
10. A Caenorhabditis elegans model of adenylosuccinate lyase deficiency reveals neuromuscular and reproductive phenotypes of distinct etiology.
Fenton AR; Janowitz HN; Franklin LP; Young RG; Moro CA; DeGennaro MV; McReynolds MR; Wang W; Hanna-Rose W
Mol Genet Metab; 2023 Nov; 140(3):107686. PubMed ID: 37607437
[TBL] [Abstract][Full Text] [Related]
11. Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency.
Baresova V; Skopova V; Sikora J; Patterson D; Sovova J; Zikanova M; Kmoch S
Hum Mol Genet; 2012 Apr; 21(7):1534-43. PubMed ID: 22180458
[TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 18649008
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiency.
Zulfiqar M; Lin DD; Van der Graaf M; Barker PB; Fahrner JA; Marie S; Morava E; De Boer L; Willemsen MA; Vining E; Horská A; Engelke U; Wevers RA; Maegawa GH
J Magn Reson Imaging; 2013 Apr; 37(4):974-80. PubMed ID: 23055421
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. The CRISPR-Cas9 crADSL HeLa transcriptome: A first step in establishing a model for ADSL deficiency and SAICAR accumulation.
Mazzarino RC; Baresova V; Zikánová M; Duval N; Wilkinson TG; Patterson D; Vacano GN
Mol Genet Metab Rep; 2019 Dec; 21():100512. PubMed ID: 31516833
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Disorders of purine biosynthesis metabolism.
Dewulf JP; Marie S; Nassogne MC
Mol Genet Metab; 2022 Jul; 136(3):190-198. PubMed ID: 34998670
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]