Search results
- 1.0541626 - 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 - 2.0480357 - ÚOCHB 2018 RIV US eng J - Journal Article
Nedelcovych, M. - Dash, R. P. - Tenora, Lukáš - Zimmermann, S. C. - Gadiano, A. J. - Garrett, C. - Alt, J. - Hollinger, K. R. - Pommier, E. - Jančařík, Andrej - Rojas, C. - Thomas, A. G. - Wu, Y. - Wozniak, K. - Majer, Pavel - Slusher, B. S. - Rais, R.
Enhanced Brain Delivery of 2-(Phosphonomethyl)pentanedioic Acid Following Intranasal Administration of Its gamma-Substituted Ester Prodrugs.
Molecular Pharmaceutics. Roč. 14, č. 10 (2017), s. 3248-3257. ISSN 1543-8384. E-ISSN 1543-8392
Institutional support: RVO:61388963
Keywords : 2-PMPA * glutamate carboxypeptidase II * neurological disease * intranasal * pharmacokinetics * prodrugs
OECD category: Organic chemistry
Impact factor: 4.556, year: 2017
Permanent Link: http://hdl.handle.net/11104/0276143 - 3.0474108 - BC 2018 RIV CH eng J - Journal Article
Bednářová, Andrea - Hanna, M. - Durham, I. - Van Cleave, T. - England, A. - Chaudhuri, A. - Krishnan, N.
Lost in translation: Defects in transfer RNA modifications and neurological disorders.
Frontiers in Molecular Neuroscience. Roč. 10, MAY 09 (2017), č. článku 135. ISSN 1662-5099. E-ISSN 1662-5099
Grant - others:AV ČR(CZ) L200961701
Institutional support: RVO:60077344
Keywords : transfer RNA modifications * modified nucleosides * neurological disease
OECD category: Genetics and heredity (medical genetics to be 3)
Impact factor: 3.902, year: 2017
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5422465/
Permanent Link: http://hdl.handle.net/11104/0271971