Fol. Biol. 2019, 65, 152-157
https://doi.org/10.14712/fb2019065030152
Metabolic Tools for Identification of New Mutations of Enzymes Engaged in Purine Synthesis Leading to Neurological Impairment
References
1. , S., Kumar, R., Sheets, E. D., Benkovic, S. J. (2008) Reversible compartmentalization of de novo purine biosynthetic complexes in living cells. Science 320, 103-106.
<https://doi.org/10.1126/science.1152241>
2. , V., Skopova, V., Sikora, J., Patterson, D., Sovova, J., Zikanova, M. Kmoch, S. (2012) Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency. Hum. Mol. Genet. 21, 1534-1543.
<https://doi.org/10.1093/hmg/ddr591>
3. , V., Krijt, M., Skopova, V., Souckova, O., Kmoch, S., Zikanova, M. (2016) CRISPR-Cas9 induced mutations along de novo purine synthesis in HeLa cells result in accumulation of individual enzyme substrates and affect purinosome formation. Mol. Genet. Metab 119, 270-277.
<https://doi.org/10.1016/j.ymgme.2016.08.004>
4. , B., Rodriguez Pena, M. D. C., Agarwal, S., Chandrashekar, D. S., Hodigere Balasubramanya, S. A., Jabboure, F. J., Matoso, A., Bivalacqua, T. J., Rezaei, K., Chaux, A., Grizzle, W. E., Sonpavde, G., Gordetsky, J., Netto, G. J., Varambally, S. (2018) A role for de novo purine metabolic enzyme PAICS in bladder cancer progression. Neoplasia 20, 894-904.
<https://doi.org/10.1016/j.neo.2018.07.006>
5. , P., Bartl, J., Stastna, S., Paulova, M., Koubikova, H., Elleder, M., Zeman, J. (2007) Screening of inherited metabolic disorders by tandem mass spectrometry. J. Inherit. Metab. Dis. 30 (Suppl. 1), 02-008P.
6. , S., Okun, J. G., Schmidt, C., Langhans, C. D., Garbade, S. F., Burgard, P., Haas, D., Sass, J. O., Nyhan, W. L., Hoffmann, G. F. (2006) Comprehensive detection of disorders of purine and pyrimidine metabolism by HPLC with electrospray ionization tandem mass spectrometry. Clin. Chem. 52, 1127-1137.
<https://doi.org/10.1373/clinchem.2005.058842>
7. , J., Wadman, S. K., Duran, M., van Sprang, F. J., Beemer, F. A., Holl, R. A., Theunissen, P. M., de Cock, P., van den Bergh, F., Vincent, M. F., van den Berghe, G. (1988) Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis. Eur. J. Pediatr. 148, 126-131.
<https://doi.org/10.1007/BF00445919>
8. , A., Zikanova, M., Kmoch, S., Tylki-Szymanska, A. (2015) Adenylosuccinate lyase deficiency. J. Inherit. Metab. Dis. 38, 231-242.
<https://doi.org/10.1007/s10545-014-9755-y>
9. , S., Hartmannova, H., Stiburkova, B., Krijt, J., Zikanova, M., Sebesta, I. (2000) 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. Hum. Mol. Genet. 9, 1501-1513.
<https://doi.org/10.1093/hmg/9.10.1501>
10. , J., Skopova, V., Adamkova, V., Cermakova, R., Jurecka, A., Kmoch, S., Zikanova, M. (2013) The need for vigilance: false-negative screening for adenylosuccinate lyase deficiency caused by deribosylation of urinary biomarkers. Clin. Biochem. 46, 1899-1901.
<https://doi.org/10.1016/j.clinbiochem.2013.10.018>
11. , L., Krijt, M., Baresova, V., Vaclavik, J., Friedecky, D., Dobesova, D., Souckova, O., Skopova, V., Adam, T., Zikanova, M. (2018) Mass spectrometric analysis of purine de novo biosynthesis intermediates. PLoS One 13, e0208947.
<https://doi.org/10.1371/journal.pone.0208947>
12. , S., Heron, B., Bitoun, P., Timmerman, T., Van Den Berghe, G., Vincent, M. F. (2004) AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC. Am. J. Hum. Genet. 74, 1276-1281.
<https://doi.org/10.1086/421475>
13. , M., Chen, Y., Jia, J., Li, L., Yang, S. (2018) Knockdown of PAICS inhibits malignant proliferation of human breast cancer cell lines. Biol. Res. 51, 24.
<https://doi.org/10.1186/s40659-018-0172-9>
14. , K., Zikanova, M., Hoffmann, G. F., Kretzschmar, B., Kuhn, T., Mildenberger, E., Stoltenburg-Didinger, G., Krijt, J., Dvorakova, L., Honzik, T., Zeman, J., Kmoch, S., Rossi, R. (2007) Lethal fetal and early neonatal presentation of adenylosuccinate lyase deficiency: observation of 6 patients in 4 families. J. Pediatr. 150, 57-61.e2.
<https://doi.org/10.1016/j.jpeds.2006.09.027>
15. , T. W., Roberts, L. A., Morris, B. J., Jones, P. A., Ogilvy, H. A., Behan, W. M., Duley, J. A., Simmonds, H. A., Vincent, M. F., van den Berghe, G. (1998) Succinylpurines induce neuronal damage in the rat brain. Adv. Exp. Med. Biol. 431, 185-189.
<https://doi.org/10.1007/978-1-4615-5381-6_36>
16. , F., Vincent, M. F., Jaeken, J., Van den Berghe, G. (1991) Radiochemical assay of adenylosuccinase: demonstration of parallel loss of activity toward both adenylosuccinate and succinylaminoimidazole carboxamide ribotide in liver of patients with the enzyme defect. Anal. Biochem. 193, 287-291.
<https://doi.org/10.1016/0003-2697(91)90023-M>
17. , G., Jaeken, J. (1986) Adenylosuccinase deficiency. Adv. Exp. Med. Biol. 195, 27-33.
<https://doi.org/10.1007/978-1-4684-5104-7_4>
18. , J., Petralia, R. S., Wang, Y. X., Mattson, M. P., Yao, P. J. (2017) Purine biosynthesis enzymes in hippocampal neurons. Neuromolecular Med. 19, 518-524.
<https://doi.org/10.1007/s12017-017-8466-6>
19. , J., Ren, W., Huang, X., Deng, J., Li, T., Yin, Y. (2018) Potential mechanisms connecting purine metabolism and cancer therapy. Front. Immunol. 9, 1697.
<https://doi.org/10.3389/fimmu.2018.01697>
20. , M., Krijt, J., Hartmannova, H., Kmoch, S. (2005) 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. J. Inherit. Metab. Dis. 2, 493-499.
<https://doi.org/10.1007/s10545-005-0493-z>
