Development of a Biosimilar of Agalsidase Beta for the Treatment of Fabry Disease: Preclinical Evaluation

Autor: André B. P. van Kuilenburg, Carla E. M. Hollak, Ana Travella, Melisa Jacobs, Lucas D. Gentilini, René Leen, Karen M. M. Ghauharali-van der Vlugt, Femke S. Beers Stet, Susan M. I. Goorden, Sanne van der Veen, Marcelo Criscuolo, Mariana Papouchado

Publikováno v: Drugs in R&D, Vol 23, Iss 2, Pp 141-153 (2023)

Abstract Background and Objective Fabry disease (FD) is a rare lysosomal storage disorder caused by a deficiency of the enzyme α-galactosidase A (aGal A). Since 2001, two different enzyme replacement therapies have been authorized, with agalsidase b

Externí odkaz: https://doaj.org/article/6b2d93e11b6841dfa83050c783069b9b

Repeat expansions nested within tandem CNVs: A unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation

Autor: Sarah Fazal, Matt C Danzi, André B P van Kuilenburg, Selina Reich, Andreas Traschütz, Benjamin Bender, René Leen, Camilo Toro, Karen Usdin, Bruce Hayward, David R Adams, Clara D M van Karnebeek, Carlos R Ferreira, Precilla D’Sousa, Undiagnosed Diseases Network, Mustafa Tekin, Stephan Züchner, Matthis Synofzik

Publikováno v: Human molecular genetics 32(1), 46-54 (2023). doi:10.1093/hmg/ddac173
Human molecular genetics, 32(1), 46-54. Oxford University Press

Glutaminase deficiency has recently been associated with ataxia and developmental delay due to repeat expansions in the 5′UTR of the glutaminase (GLS) gene. Patients with the described GLS repeat expansion may indeed remain undiagnosed due to the r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de019e5e3fcd9c31a84a5673f0719a6c

Catecholamine excretion profiles identify clinical subgroups of neuroblastoma patients

Autor: Ronald J.A. Wanders, A. B. P. Van Kuilenburg, Gerrit K. J. Hooijer, René Leen, J.A.P. van de Nes, J.R. Meinsma, Godelieve A.M. Tytgat, I.R.N. Verly, C. D. Savci-Heijink, Marloes Broekmans

Publikováno v: European journal of cancer (Oxford, England, 111, 21-29. Elsevier Limited

Introduction Analysis of urinary catecholamine metabolites is one of the primary modalities to diagnose patients with neuroblastoma. Although catecholamine excretion patterns have been recognised in the past, their biological rationale and clinical r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d759459b340db68b7ecfc7743e005a6
https://doi.org/10.1016/j.ejca.2019.01.014

DNA damage and transcription stress cause ATP-mediated redesign of metabolism and potentiation of anti-oxidant buffering

Autor: Annelieke S. de Wit, Sander Barnhoorn, Mirjam M.C. Wamelink, Renata M. C. Brandt, César Payán-Gómez, Akos Gyenis, Jan H.J. Hoeijmakers, Wilbert P. Vermeij, Pier G. Mastroberardino, André B.P. van Kuilenburg, Donatella Caruso, Sara Sepe, Matteo Audano, René Leen, Roel C. Janssens, Nico Mitro, Cíntia R. Bombardieri, Chiara Milanese, Silvia Pedretti

Publikováno v: Nature Communications, 10:4887. Nature Publishing Group
Nature Communications
Repositorio EdocUR-U. Rosario
Universidad del Rosario
instacron:Universidad del Rosario
Nature Communications, Vol 10, Iss 1, Pp 1-16 (2019)
Nature communications, 10(1):4887. Nature Publishing Group
Nature Communications, 10(1):4887. Nature Publishing Group
Milanese, C, Bombardieri, C N R, Sepe, S, Barnhoorn, S, Payán-Goméz, C S, Caruso, D, Audano, M, Pedretti, S, Vermeij, W P, Brandt, R M C, Gyenis, A, Wamelink, M M, de Wit, A S, Janssens, R C, Leen, R, van Kuilenburg, A B P, Mitro, N, Hoeijmakers, J H J & Mastroberardino, P G 2019, ' DNA damage and transcription stress cause ATP-mediated redesign of metabolism and potentiation of anti-oxidant buffering ', Nature Communications, vol. 10, no. 1, 4887 . https://doi.org/10.1038/s41467-019-12640-5

Accumulation of DNA lesions causing transcription stress is associated with natural and accelerated aging and culminates with profound metabolic alterations. Our understanding of the mechanisms governing metabolic redesign upon genomic instability, h

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd0b1d87d585fb196285b041951f99d2
https://doi.org/10.1038/s41467-019-12640-5

Synergistic interaction between cisplatin and gemcitabine in neuroblastoma cell lines and multicellular tumor spheroids

Autor: René Leen, Jerry Hoebink, Ganna V. Kalayda, Godelieve A.M. Tytgat, Rutger Meinsma, Odette G. Besançon, André B.P. van Kuilenburg, Ulrich Jaehde, Huib N. Caron

Publikováno v: Cancer letters, 319(1), 23-30. Elsevier Ireland Ltd

The efficacy and mechanism of action of cisplatin and gemcitabine were investigated in a panel of neuroblastoma cell lines and multicellular tumor spheroids. In neuroblastoma spheroids, the combination of cisplatin and gemcitabine induced a complete

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee48874dd28cd3cd7d048a206b9a3cb2
https://doi.org/10.1016/j.canlet.2011.12.016