Search results
- 1.0583020 - BTÚ 2025 RIV US eng J - Journal Article
Hays, A. - Wissel, M. - Colletti, K. - Soon, R. - Azadeh, M. - Smith, J. - Doddareddy, R. - Chalfant, M. - Adamowicz, W. - Ramaswamy, S. S. - Dholakiya, Sanjay L. - Guelman, S. - Gullick, B. - Durham, J. - Rennier, K. - Nagilla, P. - Muruganandham, A. - Diaz, M. - Tierney, C. - John, K. - Valentine, J. - Lockman, T. - Liu, H. - Moritz, B. - Ouedraogo, J. P. - Piche, M. - Smet, M. - Murphy, J. - Koenig, K. - Zybura, A. - Vyhlidal, C. - Mercier, J. - Jani, N. - Kubista, Mikael - Birch, D. - Morse, K. - Johansson, O.
Recommendations for Method Development and Validation of qPCR and dPCR Assays in Support of Cell and Gene Therapy Drug Development.
AAPS Journal. Roč. 26, č. 1 (2024), č. článku 24. ISSN 1550-7416. E-ISSN 1550-7416
Institutional support: RVO:86652036
Keywords : real-time pcr * storage * cellular kinetics * dPCR * gene therapy
OECD category: Pharmacology and pharmacy
Impact factor: 4.5, year: 2022
Method of publishing: Open access
https://link.springer.com/article/10.1208/s12248-023-00880-9
Permanent Link: https://hdl.handle.net/11104/0353352 - 2.0581769 - ÚEM 2024 RIV DE eng J - Journal Article
Nieuwenhuis, B. - Laperrousaz, E. - Tribble, J.R. - Verhaagen, J. - Fawcett, James - Martin, K.R. - Williams, P.A. - Osborne, A.
Improving adeno-associated viral (AAV) vector-mediated transgene expression in retinal ganglion cells: comparison of five promoters.
Gene Therapy. Roč. 30, č. 9 (2023), s. 503-519. ISSN 0969-7128. E-ISSN 1476-5462
R&D Projects: GA MŠMT(CZ) EF15_003/0000419
Institutional support: RVO:68378041
Keywords : posttranscriptional regulatory element * aug initiator codon * heparan-sulfate proteoglycan * growth-factor receptor * gene-therapy
OECD category: Cell biology
Impact factor: 5.1, year: 2022
Method of publishing: Open access
https://www.nature.com/articles/s41434-022-00380-z
Permanent Link: https://hdl.handle.net/11104/0350408 - 3.0570872 - ÚFCH JH 2024 RIV GB eng J - Journal Article
Pokorná, Šárka - Khersonsky, O. - Lipsh-Sokolik, R. - Goldenzweig, A. - Nielsen, R. - Ashani, Y. - Peleg, Y. - Unger, T. - Albeck, S. - Dym, O. - Tirosh, A. - Tarayra, R. - Hocquemiller, M. - Laufer, R. - Ben-Dor, S. - Silman, I. - Sussman, J. L. - Fleishman, S. J. - Futerman, A. H.
Design of a stable human acid-β-glucosidase: towards improved Gaucher disease therapy and mutation classification.
FEBS Journal. Roč. 290, č. 13 (2023), s. 3383-3399. ISSN 1742-464X. E-ISSN 1742-4658
Institutional support: RVO:61388955
Keywords : Gaucher disease * gene therapy * in silico mutation classification * pross * Rosetta * SNPs
OECD category: Physical chemistry
Impact factor: 5.4, year: 2022
Method of publishing: Open access
Permanent Link: https://hdl.handle.net/11104/0342198File Download Size Commentary Version Access 0570872.pdf 0 1.6 MB open access Publisher’s postprint open-access - 4.0569102 - ÚMG 2023 RIV CZ eng G - Proceedings (international conference)
Sedláček, Radislav (ed.)
4th CCP Phenogenomics Conference abstract book.
Praha: Ústav molekulární genetiky AV ČR, v. v. i., 2022. 83 s. ISBN 978-80-907896-2-3.
[CCP Phenogenomics Conference /4th/. Praha (CZ), 15.09.2022-16.09.2022]
R&D Projects: GA MŠMT EF18_046/0015861; GA MŠMT(CZ) LM2018126
Grant - others:AV ČR(CZ) StrategieAV21/27
Program: StrategieAV
Institutional support: RVO:68378050
Keywords : phenogenomics * rare diseases * gene therapy * experimental models * delivery of therapies
OECD category: Genetics and heredity (medical genetics to be 3)
https://www.phenogenomics.cz/2021/11/4th-ccp-phenogenomics-conference/
Permanent Link: https://hdl.handle.net/11104/0340426 - 5.0561328 - ÚMG 2023 RIV eng U - Conference, Workshop Arrangement
Sedláček, Radislav
4th CCP Phenogenomics Conference.
[Vestec u Prahy, 15.09.2022-16.09.2022, (K-EUR 160/51)]
R&D Projects: GA MŠMT(CZ) LM2018126; GA MŠMT EF16_013/0001789
Institutional support: RVO:68378050
Keywords : phenogenomics * rare diseases * gene therapy * experimental models * delivery of therapies
OECD category: Genetics and heredity (medical genetics to be 3)
https://www.ccp-conference.cz/archive/2022/
Permanent Link: https://hdl.handle.net/11104/0334010 - 6.0558509 - ÚŽFG 2023 RIV GB eng J - Journal Article
Grotz, S. - Schäfer, J. - Wunderlich, K. A. - Ellederová, Zdeňka - Auch, H. - Bahr, A. - Runa - Vochozková, P. - Fadl, J. - Arnold, V. - Ardan, Taras - Veith, M. - Santamaria, G. - Dhom, G. - Hitzl, W. - Kessler, B. - Eckardt, Ch. - Klein, J. - Brymová, Anna - Linnert, J. - Kurome, M. - Zakharchenko, V. - Fischer, A. - Blutke, A. - Doring, A. - Suchánková, Štěpánka - Popelář, Jiří - Rodríguez-Bocanegra, E. - Dlugaiczyk, J. - Straka, H. - May-Simera, H. - Wang, W. - Laugwitz, K. L. - Vandenberghe, L. H. - Wolf, E. - Nagel-Wolfrum, K. - Peters, T. - Motlík, Jan - Fischer, D. M. - Wolfrum, U. - Klymiuk, N.
Early disruption of photoreceptor cell architecture and loss of vision in a humanized pig model of usher syndromes.
EMBO Molecular Medicine. Roč. 14, č. 4 (2022), č. článku e14817. ISSN 1757-4676. E-ISSN 1757-4684
Institutional support: RVO:67985904 ; RVO:68378041
Keywords : gene therapy * impaired vision * photoreceptor morphology
OECD category: Ophthalmology; Neurosciences (including psychophysiology (UEM-P)
Impact factor: 11.1, year: 2022
Method of publishing: Open access
https://www.embopress.org/doi/full/10.15252/emmm.202114817
Permanent Link: http://hdl.handle.net/11104/0332148 - 7.0555857 - FGÚ 2023 RIV CH eng J - Journal Article
Marković, Aleksandra - Tauchmannová, Kateřina - Šimáková, Miroslava - Mlejnek, Petr - Kaplanová, Vilma - Pecina, Petr - Pecinová, Alena - Papoušek, František - Liška, František - Šilhavý, Jan - Mikešová, Jana - Neckář, Jan - Houštěk, Josef - Pravenec, Michal - Mráček, Tomáš
Genetic Complementation of ATP Synthase Deficiency Due to Dysfunction of TMEM70 Assembly Factor in Rat.
Biomedicines. Roč. 10, č. 2 (2022), č. článku 276. E-ISSN 2227-9059
R&D Projects: GA ČR(CZ) GA20-25768S; GA MZd(CZ) NU21-07-00550
Grant - others:AV ČR(CZ) AP1502
Program: Akademická prémie - Praemium Academiae
Institutional support: RVO:67985823
Keywords : mitochondria disease * ATP synthase deficiency * TMEM70 factor * transgenic rescue * gene therapy
OECD category: Biochemistry and molecular biology
Impact factor: 4.7, year: 2022
Method of publishing: Open access
https://www.mdpi.com/2227-9059/10/2/276
Permanent Link: http://hdl.handle.net/11104/0330319 - 8.0553041 - ÚEM 2022 RIV CH eng J - Journal Article
Štěpánková, Kateřina - Jendelová, Pavla - Machová-Urdzíková, Lucia
Planet of the AAVs: The Spinal Cord Injury Episode.
Biomedicines. Roč. 9, č. 6 (2021), č. článku 613. E-ISSN 2227-9059
R&D Projects: GA MŠMT(CZ) EF15_003/0000419; GA ČR(CZ) GA19-10365S
Institutional support: RVO:68378041
Keywords : spinal cord injury * gene therapy * adeno-associated virus * AAV vector
OECD category: Neurosciences (including psychophysiology
Impact factor: 4.757, year: 2021
Method of publishing: Open access
https://www.mdpi.com/2227-9059/9/6/613
Permanent Link: http://hdl.handle.net/11104/0328079 - 9.0542472 - ÚŽFG 2022 RIV US eng J - Journal Article
Vallés, A. - Evers, M. - Stam, A. - Sogorb-Gonzales, M. - Brouwers, C. - Vendrell-Tornero, C. - Acar-Broekmans, S. - Paerels, L. - Klíma, Jiří - Bohuslavová, Božena - Pintauro, R. - Fodale, V. - Bresciani, A. - Liščák, R. - Urgošík, D. - Stárek, Z. - Crha, M. - Blits, B. - Petry, H. - Ellederová, Zdeňka - Motlík, Jan - van Deventer, S. - Konstantinová, P.
Widespread and sustained target engagement in Huntington's disease minipigs upon intrastriatal microRNA-based gene therapy.
Science Translational Medicine. Roč. 13, č. 588 (2021), č. článku eabb8920. ISSN 1946-6234. E-ISSN 1946-6242
R&D Projects: GA MŠMT(CZ) LO1609
Institutional support: RVO:67985904
Keywords : Huntington´s disease * miinipig * gene therapy
OECD category: Genetics and heredity (medical genetics to be 3)
Impact factor: 19.343, year: 2021
Method of publishing: Limited access
https://asep.lib.cas.cz/arl-cav/cs/csg/?repo=crepo1&key=99302825624
Permanent Link: http://hdl.handle.net/11104/0319876 - 10.0536888 - 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