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 - 2.0541622 - FGÚ 2022 RIV CH eng J - Journal Article
Čunátová, Kristýna - Pajuelo-Reguera, David - Vrbacký, Marek - Fernández-Vizarra, E. - Ding, SJ. - Fearnley, I.M. - Zeviani, M. - Houštěk, Josef - Mráček, Tomáš - Pecina, Petr
Loss of COX4I1 Leads to Combined Respiratory Chain Deficiency and Impaired Mitochondrial Protein Synthesis.
Cells. Roč. 10, č. 2 (2021), č. článku 369. E-ISSN 2073-4409
R&D Projects: GA ČR(CZ) GA16-13671S; GA MZd(CZ) NV19-07-00149; GA MŠMT(CZ) ED1.1.00/02.0109
Institutional support: RVO:67985823
Keywords : mitochondria * OXPHOS * cI * COX * cIV * COX4 * knock-out * cIV assembly * complex I * biogenesis interdependency * complexome profiling * mitochondrial protein synthesis
OECD category: Biochemistry and molecular biology
Impact factor: 7.666, year: 2021
Method of publishing: Open access
https://www.mdpi.com/2073-4409/10/2/369
Permanent Link: http://hdl.handle.net/11104/0319155 - 3.0536893 - FGÚ 2021 RIV CZ eng J - Journal Article
Čunátová, Kristýna - Pajuelo-Reguera, David - Houštěk, Josef - Mráček, Tomáš - Pecina, Petr
Role of cytochrome c oxidase nuclear-encoded subunits in health and disease.
Physiological Research. Roč. 69, č. 6 (2020), s. 947-965. ISSN 0862-8408. E-ISSN 1802-9973
R&D Projects: GA ČR(CZ) GA16-13671S; GA MZd(CZ) NV19-07-00149
Institutional support: RVO:67985823
Keywords : mitochondria * OXPHOS * cytochrome c oxidase * nuclear-encoded subunits * mitochondrial diseases
OECD category: Biochemistry and molecular biology
Impact factor: 1.881, year: 2020
Method of publishing: Open access
https://www.biomed.cas.cz/physiolres/pdf/2020/69_947.pdf
Permanent Link: http://hdl.handle.net/11104/0314645 - 4.0536888 - FGÚ 2021 RIV CZ eng J - Journal Article
Koňaříková, Eliška - Marković, Aleksandra - Korandová, Zuzana - Houštěk, Josef - Mráček, Tomáš
Current progress in the therapeutic options for mitochondrial disorders.
Physiological Research. Roč. 69, č. 6 (2020), s. 967-994. ISSN 0862-8408. E-ISSN 1802-9973
R&D Projects: GA MZd(CZ) NV19-07-00149
Institutional support: RVO:67985823
Keywords : mitochondria * OXPHOS * mitochondrial diseases * gene therapy * mitochondrial donation
OECD category: Human genetics
Impact factor: 1.881, year: 2020
Method of publishing: Open access
https://www.biomed.cas.cz/physiolres/pdf/2020/69_967.pdf
Permanent Link: http://hdl.handle.net/11104/0314640