Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Vaclava Skopova"'
Autor:
Ilaria Dutto, Julian Gerhards, Antonio Herrera, Olga Souckova, Václava Škopová, Jordann A Smak, Alexandra Junza, Oscar Yanes, Cedric Boeckx, Martin D Burkhalter, Marie Zikánová, Sebastian Pons, Melanie Philipp, Jens Lüders, Travis H Stracker
Publikováno v:
eLife, Vol 11 (2022)
Adenylosuccinate lyase (ADSL) functions in de novo purine synthesis (DNPS) and the purine nucleotide cycle. ADSL deficiency (ADSLD) causes numerous neurodevelopmental pathologies, including microcephaly and autism spectrum disorder. ADSLD patients ha
Externí odkaz:
https://doaj.org/article/5ef7d8baa9df4de681a7f4e9f3e46c1a
Autor:
Olga Souckova, Vaclava Skopova, Veronika Baresova, David Sedlak, Anthony J. Bleyer, Stanislav Kmoch, Marie Zikanova
Publikováno v:
Metabolites, Vol 12, Iss 12, p 1210 (2022)
Cytotoxicity of de novo purine synthesis (DNPS) metabolites is critical to the pathogenesis of three known and one putative autosomal recessive disorder affecting DNPS. These rare disorders are caused by biallelic mutations in the DNPS genes phosphor
Externí odkaz:
https://doaj.org/article/ca41efae37a14af5b665d8b05d9bd17a
Autor:
Veronika Baresova, Vaclava Skopova, Olga Souckova, Matyas Krijt, Stanislav Kmoch, Marie Zikanova
Publikováno v:
PLoS ONE, Vol 13, Iss 7, p e0201432 (2018)
BACKGROUND:The enzymes involved in de novo purine synthesis (DNPS), one of the basic processes in eukaryotic cells, transiently and reversibly form a dynamic multienzyme complex called the purinosome in the cytoplasm. The purinosome has been observed
Externí odkaz:
https://doaj.org/article/39f882fa3ef74304972052fbf7079c2b
Autor:
Marie Zikanova, Stanislav Kmoch, Aleš Hnízda, Martina Živná, Charles Pitts, Arielle Hay, Kateřina Hodaňová, Veronika Baresova, Viktor Stránecký, Blanka Stibůrková, Vaclava Skopova, Dita Musalkova, Anthony J. Bleyer, Hana Hartmannová, Dawn M. Wahezi, Olga Souckova
Publikováno v:
Rheumatology. 57:1180-1185
Objectives Phosphoribosylpyrophosphate synthetase (PRPS1) superactivity is an X-linked disorder characterized by urate overproduction Online Mendelian Inheritance in Man (OMIM) gene reference 300661. This condition is thought to rarely affect women,
Autor:
Veronika Baresova, Vaclava Skopova, Marie Zikanova, Matyas Krijt, Stanislav Kmoch, Olga Souckova
Publikováno v:
Molecular Genetics and Metabolism. 119:270-277
Purines are essential molecules for nucleic acid synthesis and are the most common carriers of chemical energy in all living organisms. The cellular pool of purines is maintained by the balance between their de novo synthesis (DNPS), recycling and de
Publikováno v:
The FASEB Journal. 32
Autor:
Stanislav Kmoch, Nathan Duval, Marie Zikanova, Vaclava Skopova, Veronika Baresova, Terry G. Wilkinson, Guido N. Vacano, David Patterson, Kyleen Luhrs
Publikováno v:
Molecular Genetics and Metabolism. 108:178-189
Purines are molecules essential for many cell processes, including RNA and DNA synthesis, regulation of enzyme activity, protein synthesis and function, energy metabolism and transfer, essential coenzyme function, and cell signaling. Purines are prod
Publikováno v:
Human Mutation. 31:445-455
Adenylosuccinate lyase (ADSL) deficiency is neurometabolic disease characterized by accumulation of dephosphorylated enzyme substrates SAICA-riboside (SAICAr) and succinyladenosine (S-Ado) in body fluids of affected individuals. The phenotypic severi
Autor:
Jakub Krijt, Stanislav Kmoch, Matyas Krijt, Marie Zikanova, Vaclava Skopova, Veronika Baresova
Publikováno v:
Clinical biochemistry. 48(1-2)
Objectives Stable isotope dilution coupled with liquid chromatography–tandem mass spectrometry (LC–MS/MS) is the sensitive method for screening for various inherited metabolic disorders using dried blood spots (DBSs). We present a method for LC
Autor:
Agnieszka Jurecka, Vaclava Skopova, Vaclava Adamkova, Marie Zikanova, Jakub Krijt, Renata Cermakova, Stanislav Kmoch
Publikováno v:
Clinical biochemistry. 46(18)
Objectives Adenylosuccinate lyase deficiency (dADSL) is a rare inherited metabolic disorder. Biochemical diagnosis of the disease is based on the determination of enormously elevated urinary levels of succinylaminoimidazole carboxamide riboside (SAIC