Zobrazeno 1 - 10
of 539
pro vyhledávání: '"Garanto, A."'
Autor:
Irene Vázquez-Domínguez, Mert Öktem, Florian A. Winkelaar, Thai Hoang Nguyen, Anita D.M. Hoogendoorn, Eleonora Roschi, Galuh D.N. Astuti, Raoul Timmermans, Nuria Suárez-Herrera, Ilaria Bruno, Albert Ruiz-Llombart, Joseph Brealey, Olivier G. de Jong, Rob W.J. Collin, Enrico Mastrobattista, Alejandro Garanto
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 35, Iss 4, Pp 102345- (2024)
Deep-intronic (DI) variants represent approximately 10%–12% of disease-causing genetic defects in ABCA4-associated Stargardt disease (STGD1). Although many of these DI variants are amenable to antisense oligonucleotide-based splicing-modulation the
Externí odkaz:
https://doaj.org/article/9cd8756ec318431f8076236a1e749258
Autor:
Imke M.E. Schuurmans, Clara D.M. van Karnebeek, Anita D.M. Hoogendoorn, Nael Nadif Kasri, Alejandro Garanto
Publikováno v:
Stem Cell Research, Vol 79, Iss , Pp 103480- (2024)
ALDH7A1 encodes for the enzyme catalyzing the third step of the lysine degradation pathway. Biallelic pathogenic variants in ALDH7A1 are associated with pyridoxine dependent epilepsy (PDE), of which the c.1279G>C (p.Glu427Gln) variant is the most com
Externí odkaz:
https://doaj.org/article/0db6942b54c74e9898cd36be8163be82
Autor:
Imke M.E. Schuurmans, Clara D.M. van Karnebeek, Anita D.M. Hoogendoorn, Antonia Ribes, Nael Nadif Kasri, Alejandro Garanto
Publikováno v:
Stem Cell Research, Vol 79, Iss , Pp 103481- (2024)
GCDH encodes for the enzyme catalyzing the sixth step of the lysine degradation pathway. Autosomal recessive variants in GCDH are associated with glutaric aciduria type I (GA1), of which a wide genotypic spectrum of pathogenic variants have been desc
Externí odkaz:
https://doaj.org/article/39401f30fab848babd7171327a907f4f
Autor:
Vázquez-Domínguez, Irene, Öktem, Mert, Winkelaar, Florian A., Nguyen, Thai Hoang, Hoogendoorn, Anita D.M., Roschi, Eleonora, Astuti, Galuh D.N., Timmermans, Raoul, Suárez-Herrera, Nuria, Bruno, Ilaria, Ruiz-Llombart, Albert, Brealey, Joseph, de Jong, Olivier G., Collin, Rob W.J., Mastrobattista, Enrico, Garanto, Alejandro
Publikováno v:
In Molecular Therapy - Nucleic Acids 10 December 2024 35(4)
Autor:
Suárez-Herrera, Nuria, Riswick, Iris B., Vázquez-Domínguez, Irene, Duijkers, Lonneke, Karjosukarso, Dyah W., Piccolo, Davide, Bauwens, Miriam, De Baere, Elfride, Cheetham, Michael E., Garanto, Alejandro, Collin, Rob W.J.
Publikováno v:
In Molecular Therapy 6 March 2024 32(3):837-851
Autor:
Tess A.V. Afanasyeva, Dimitra Athanasiou, Pedro R.L. Perdigao, Kae R. Whiting, Lonneke Duijkers, Galuh D.N. Astuti, Jean Bennett, Alejandro Garanto, Jacqueline van der Spuy, Ronald Roepman, Michael E. Cheetham, Rob W.J. Collin
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 29, Iss , Pp 522-531 (2023)
Mutations in the lebercilin-encoding gene LCA5 cause one of the most severe forms of Leber congenital amaurosis, an early-onset retinal disease that results in severe visual impairment. Here, we report on the generation of a patient-specific cellular
Externí odkaz:
https://doaj.org/article/638b92cd785044729f1ee8d162702be3
Autor:
Cavazza, Alessia, Hendel, Ayal, Bak, Rasmus O., Rio, Paula, Güell, Marc, Lainšček, Duško, Arechavala-Gomeza, Virginia, Peng, Ling, Hapil, Fatma Zehra, Harvey, Joshua, Ortega, Francisco G., Gonzalez-Martinez, Coral, Lederer, Carsten W., Mikkelsen, Kasper, Gasiunas, Giedrius, Kalter, Nechama, Gonçalves, Manuel A.F.V., Petersen, Julie, Garanto, Alejandro, Montoliu, Lluis, Maresca, Marcello, Seemann, Stefan E., Gorodkin, Jan, Mazini, Loubna, Sanchez, Rosario, Rodriguez-Madoz, Juan R., Maldonado-Pérez, Noelia, Laura, Torella, Schmueck-Henneresse, Michael, Maccalli, Cristina, Grünewald, Julian, Carmona, Gloria, Kachamakova-Trojanowska, Neli, Miccio, Annarita, Martin, Francisco, Turchiano, Giandomenico, Cathomen, Toni, Luo, Yonglun, Tsai, Shengdar Q., Benabdellah, Karim
Publikováno v:
In Molecular Therapy - Nucleic Acids 12 December 2023 34
Autor:
Nuria Suárez-Herrera, Nico Leijsten, Silvia Albert, Nathalie M. Bax, Carel B. Hoyng, Frans P.M. Cremers, Alejandro Garanto, Rob W.J. Collin
Publikováno v:
Stem Cell Research, Vol 73, Iss , Pp 103252- (2023)
Pathogenic variants in ABCA4 are associated with Stargardt disease (STGD1), an autosomal recessive macular dystrophy characterized by bilateral central vision loss due to a progressive degeneration of retinal cells. An induced pluripotent stem cell (
Externí odkaz:
https://doaj.org/article/d941c4a9899844418c163372794e5485
Autor:
Alessia Cavazza, Ayal Hendel, Rasmus O. Bak, Paula Rio, Marc Güell, Duško Lainšček, Virginia Arechavala-Gomeza, Ling Peng, Fatma Zehra Hapil, Joshua Harvey, Francisco G. Ortega, Coral Gonzalez-Martinez, Carsten W. Lederer, Kasper Mikkelsen, Giedrius Gasiunas, Nechama Kalter, Manuel A.F.V. Gonçalves, Julie Petersen, Alejandro Garanto, Lluis Montoliu, Marcello Maresca, Stefan E. Seemann, Jan Gorodkin, Loubna Mazini, Rosario Sanchez, Juan R. Rodriguez-Madoz, Noelia Maldonado-Pérez, Torella Laura, Michael Schmueck-Henneresse, Cristina Maccalli, Julian Grünewald, Gloria Carmona, Neli Kachamakova-Trojanowska, Annarita Miccio, Francisco Martin, Giandomenico Turchiano, Toni Cathomen, Yonglun Luo, Shengdar Q. Tsai, Karim Benabdellah
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 34, Iss , Pp 102066- (2023)
The European Cooperation in Science and Technology (COST) is an intergovernmental organization dedicated to funding and coordinating scientific and technological research in Europe, fostering collaboration among researchers and institutions across co
Externí odkaz:
https://doaj.org/article/dff3b1dde38845db9319c7538193d46c
Autor:
Afanasyeva, Tess A.V., Athanasiou, Dimitra, Perdigao, Pedro R.L., Whiting, Kae R., Duijkers, Lonneke, Astuti, Galuh D.N., Bennett, Jean, Garanto, Alejandro, van der Spuy, Jacqueline, Roepman, Ronald, Cheetham, Michael E., Collin, Rob W.J.
Publikováno v:
In Molecular Therapy - Methods & Clinical Development 8 June 2023 29:522-531