Search results
- 1.0567469 - ÚMG 2023 RIV CH eng J - Journal Article
Součková, O. - Škopová, V. - Barešová, V. - Sedlák, David - Bleyer, A. J. - Kmoch, S. - Zikánová, M.
Metabolites of De Novo Purine Synthesis: Metabolic Regulators and Cytotoxic Compounds.
Metabolites. Roč. 12, č. 12 (2022), č. článku 1210. E-ISSN 2218-1989
R&D Projects: GA MŠMT(CZ) LM2018130
Research Infrastructure: NCMG II - 90132
Institutional support: RVO:68378050
Keywords : purine synthesis * pfas * paics * adsl * atic * cytotoxicity * fgar * air * saicar * aicar
OECD category: Biochemistry and molecular biology
Impact factor: 4.1, year: 2022
Method of publishing: Open access
https://www.mdpi.com/2218-1989/12/12/1210
Permanent Link: https://hdl.handle.net/11104/0338718 - 2.0541626 - FGÚ 2022 RIV GB eng J - Journal Article
Oláhová, M. - Peter, B. - Szilagyi, Z. - Diaz-Maldonado, H. - Singh, M. - Sommerville, E. W. - Blakely, E. L. - Collier, J. J. - Hoberg, E. - Stránecký, V. - Hartmannová, H. - Bleyer, A. J. - McBride, K. L. - Bowden, S. A. - Korandová, Zuzana - Pecinová, Alena - Ropers, H.-H. - Kahrizi, K. - Najmabadi, H. - Tarnopolsky, M. A. - Brady, L. I. - Weaver, K. N. - Prada, C. E. - Ounap, K. - Wojcik, M. H. - Pajusalu, S. - Syeda, S. B. - Pais, L. - Estrella, E. A. - Bruels, Ch. C. - Kunkel, L. M. - Kang, P. B. - Bonnen, P. E. - Mráček, Tomáš - Kmoch, S. - Gorman, G. S. - Falkenberg, M. - Gustafsson, C. M. - Taylor, R. W.
POLRMT mutations impair mitochondrial transcription causing neurological disease.
Nature Communications. Roč. 12, č. 1 (2021), č. článku 1135. E-ISSN 2041-1723
R&D Projects: GA MZd(CZ) NV19-07-00149; GA MŠMT(CZ) LQ1604
Research Infrastructure: NCMG II - 90132
Institutional support: RVO:67985823
Keywords : POLRMT * mitochondrial RNA polymerase * mitochondrial transcription * neurological disease
OECD category: Biochemistry and molecular biology
Impact factor: 17.694, year: 2021
Method of publishing: Open access
https://www.nature.com/articles/s41467-021-21279-0
Permanent Link: http://hdl.handle.net/11104/0319159 - 3.0522814 - ÚMG 2020 RIV GB eng J - Journal Article
Pelet, A. - Škopová, V. - Steuerwald, U. - Barešová, V. - Zarhrate, M. - Plaza, J. - M. - Hnízda, A. - Krijt, M. - Součková, O. - Wibrand, F. - Andorsdottir, G. - Joensen, F. - Sedlák, David - Bleyer, A. J. - Kmoch, S. - Lyonnet, S. - Zikanov, M.
PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome.
Human Molecular Genetics. Roč. 28, č. 22 (2019), s. 3805-3814. ISSN 0964-6906. E-ISSN 1460-2083
R&D Projects: GA MŠMT(CZ) LQ1604; GA MŠMT LM2015063
Institutional support: RVO:68378050
Keywords : aica-ribosiduria * adenylosuccinate * mutations * ribotide * adsl
OECD category: Genetics and heredity (medical genetics to be 3)
Impact factor: 5.101, year: 2019
Method of publishing: Limited access
https://academic.oup.com/hmg/article/28/22/3805/5584440
Permanent Link: http://hdl.handle.net/11104/0307242 - 4.0492198 - ÚOCHB 2019 RIV GB eng J - Journal Article
Zikánová, M. - Wahezi, D. - Hay, A. - Stibůrková, B. - Pitts, C. - Mušálková, D. - Škopová, V. - Barešová, V. - Součková, O. - Hodaňová, K. - Živná, M. - Stránecký, V. - Hartmannová, H. - Hnízda, Aleš - Bleyer, A. J. - Kmoch, S.
Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females.
Rheumatology. Roč. 57, č. 7 (2018), s. 1180-1185. ISSN 1462-0324. E-ISSN 1462-0332
Institutional support: RVO:61388963
Keywords : hereditary gout * PRPS1 superactivity * PRPS1 * X-linked inheritance * gouty arthritis
OECD category: Biochemistry and molecular biology
Impact factor: 5.149, year: 2018
Permanent Link: http://hdl.handle.net/11104/0285742