Zobrazeno 1 - 10
of 85
pro vyhledávání: '"Alejandro, Garanto"'
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:
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:
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:
Imke M.E. Schuurmans, Ka M. Wu, Clara D.M. van Karnebeek, Nael Nadif Kasri, Alejandro Garanto
Publikováno v:
Stem Cell Research, Vol 71, Iss , Pp 103173- (2023)
Biallelic pathogenic variants in ALDH7A1 are associated with pyridoxine-dependent epilepsy (PDE). ALDH7A1 encodes for the third enzyme of the lysine catabolism pathway. In this study a human isogenic ALDH7A1 knock-out iPSC line was created using CRIS
Externí odkaz:
https://doaj.org/article/572f4d85b45849b0b6b3a21b9677e951
Autor:
Nuria Suárez-Herrera, Catherina H. Z. Li, Nico Leijsten, Dyah W. Karjosukarso, Zelia Corradi, Femke Bukkems, Lonneke Duijkers, Frans P. M. Cremers, Carel B. Hoyng, Alejandro Garanto, Rob W. J. Collin
Publikováno v:
Cells, Vol 13, Iss 7, p 601 (2024)
Precision medicine is rapidly gaining recognition in the field of (ultra)rare conditions, where only a few individuals in the world are affected. Clinical trial design for a small number of patients is extremely challenging, and for this reason, the
Externí odkaz:
https://doaj.org/article/78195cd5174e462d99f4bd1b2718bd4e
Autor:
Imke M.E. Schuurmans, Ka M. Wu, Clara D.M. van Karnebeek, Nael Nadif Kasri, Alejandro Garanto
Publikováno v:
Stem Cell Research, Vol 69, Iss , Pp 103069- (2023)
GCDH encodes for the enzyme catalyzing the sixth step of the lysine catabolism pathway. Biallelic pathogenic variants in GCDH have been associated with glutaric aciduria type 1 (GA1). In this study CRISPR/Cas9 technology was used to create an isogeni
Externí odkaz:
https://doaj.org/article/52d9d77ce58e4212930f6f2ce2493905
Autor:
Siebren Faber, Olivier Mercey, Katrin Junger, Alejandro Garanto, Helen May-Simera, Marius Ueffing, Rob W.J. Collin, Karsten Boldt, Paul Guichard, Virginie Hamel, Ronald Roepman
Publikováno v:
JCI Insight, Vol 8, Iss 10 (2023)
Leber congenital amaurosis (LCA) is a group of inherited retinal diseases characterized by early-onset, rapid loss of photoreceptor cells. Despite the discovery of a growing number of genes associated with this disease, the molecular mechanisms of ph
Externí odkaz:
https://doaj.org/article/a2bc26897c2d4afd9e4c1af09072289e