CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders

Authors: van Karnebeek, Clara D.M., Tarailo-Graovac, Maja, Leen, René, Meinsma, Rutger, Correard, Solenne, Jansen-Meijer, Judith, Prykhozhij, Sergey V., Pena, Izabella A., Ban, Kevin, Schock, Sarah, Saxena, Vishal, Pras-Raves, Mia L., Drögemöller, Britt I., Grootemaat, Anita E., van der Wel, Nicole N., Dobritzsch, Doreen, Roseboom, Winfried, Schomakers, Bauke V., Jaspers, Yorrick R.J., Zoetekouw, Lida, Roelofsen, Jeroen, Ferreira, Carlos R., van der Lee, Robin, Ross, Colin J., Kochan, Jakub, McIntyre, Rebecca L., van Klinken, Jan B., van Weeghel, Michel, Kramer, Gertjan, Weschke, Bernhard, Labrune, Philippe, Willemsen, Michèl A., Riva, Daria, Garavaglia, Barbara, Moeschler, John B., Filiano, James J., Ekker, Marc, Berman, Jason N., Dyment, David, Vaz, Frédéric M., Wasserman, Wyeth W., Houtkooper, Riekelt H., van Kuilenburg, André B.P.

Source: In Genetics in Medicine June 2024 26(6)

Hypothermic perfusion with retrograde outflow during right hepatectomy is safe and feasible

Authors: Reiniers, Megan J., Olthof, Pim. B., van Golen, Rowan F., Heger, Michal, van Beek, Adriaan A., Meijer, Ben, Leen, René, van Kuilenburg, André B.P., Mearadji, Banafsche, Bennink, Roelof J., Verheij, Joanne, van Gulik, Thomas M.

Source: In Surgery July 2017 162(1):48-58

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

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

Source: In Cancer Letters 1 June 2012 319(1):23-30

Promising effects of the 4HPR–BSO combination in neuroblastoma monolayers and spheroids

Authors: Cuperus, Roos, van Kuilenburg, André B.P., Leen, René, Bras, Johannes, Caron, Huib N., Tytgat, Godelieve A.M.

Source: In Free Radical Biology and Medicine 2011 51(6):1213-1220

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

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

Source: Drugs in R&D; Jun2023, Vol. 23 Issue 2, p141-153, 13p

Subject Terms: ANGIOKERATOMA corporis diffusum, THERAPEUTICS, AMINO acid sequence, LYSOSOMAL storage diseases, ENZYME deficiency

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

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

Source: Human Molecular Genetics; Jan2023, Vol. 32 Issue 1, p46-54, 9p

Antagonistic effects of sequential administration of BL1521, a histone deacetylase inhibitor, and gemcitabine to neuroblastoma cells

Authors: de Ruijter, Annemieke J.M., Leen, René, Hoebink, Jerry, Caron, Huib N., van Kuilenburg, André B.P.

Source: In Cancer Letters 2006 233(2):240-246

Determination of the deoxycytidine kinase activity in cell homogenates with a non-radiochemical assay using reversed-phase high performance liquid chromatography: Identification of a novel metabolite of 2-chlorodeoxyadenosine

Authors: Bierau, Jörgen, Leen, René, Gennip, Albert H.van, Caron, Huib N., Kuilenburg, André B.P.van

Source: In Journal of Chromatography B 2004 805(2):339-346

Urinary 3-Methoxytyramine Is a Biomarker for MYC Activity in Patients With Neuroblastoma.

Authors: Verly, Iedan R. N., Matser, Yvette A. H., Leen, René, Meinsma, Rutger, Fiocco, Marta, Koster, Jan, Volckmann, Richard, Savci-Heijink, Dilara, Cangemi, Giuliana, Barco, Sebastiano, Valentijn, Linda J., Tytgat, Godelieve A. M., van Kuilenburg, André B. P.

Source: JCO Precision Oncology; 1/27/2022, Vol. 6, p1-13, 13p

Subject Terms: NEUROBLASTOMA, BIOMARKERS, SURVIVAL rate, PEDIATRIC oncology, OVERALL survival, GENE expression

Retinoic acid reduces the cytotoxicity of cyclopentenyl cytosine in neuroblastoma cells

Authors: Bierau, Jörgen, van Gennip, Albert H, Leen, René, Caron, Huib N, van Kuilenburg, André B.P

Source: In FEBS Letters 11 September 2002 527(1-3):229-233

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

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

Source: Nature Communications; 10/25/2019, Vol. 10 Issue 1, p1-16, 16p

Subject Terms: DNA damage, DNA repair, PENTOSE phosphate pathway, NUCLEOTIDES, COCKAYNE syndrome

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Cyclopentenyl cytosine primes SK-N-BE(2)c neuroblastoma cells for cytarabine toxicity.

Authors: Bierau, Jörgen, van Gennip, Albert H., Leen, René, Helleman, Jozien, Caron, Huib N., van Kuilenburg, André B.P.

Source: International Journal of Cancer; Jan2003, Vol. 103 Issue 3, p387-392, 6p

Cyclopentenyl cytosine increases the phosphorylation and incorporation into DNA of 1-β-D-arabinofuranosyl cytosine in a human T-lymphoblastic cell line.

Authors: Verschuur, Arnauld C., Van Gennip, Albert H., Leen, René, Voûte, P.A., Brinkman, Josanne, Van Kuilenburg, André B.P.

Source: International Journal of Cancer; Apr2002, Vol. 98 Issue 4, p616-623, 8p