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4 results on '"Árpád Ferenc Kovács"'

1. Flow Cytometry-Based Assay to Detect Alpha Galactosidase Enzymatic Activity at the Cellular Level

Author

Nóra Fekete, Luca Kamilla Li, Gergely Tibor Kozma, György Fekete, Éva Pállinger, and Árpád Ferenc Kovács

Subjects
Fabry disease, AGAL activity, flow cytometry, single cells, globotriaosyl–ceramide, Cytology, QH573-671
Abstract

Background: Fabry disease is a progressive, X chromosome-linked lysosomal storage disorder with multiple organ dysfunction. Due to the absence or reduced activity of alpha-galactosidase A (AGAL), glycosphingolipids, primarily globotriaosyl-ceramide (Gb3), concentrate in cells. In heterozygous women, symptomatology is heterogenous and currently routinely used fluorometry-based assays measuring mean activity mostly fail to uncover AGAL dysfunction. The aim was the development of a flow cytometry assay to measure AGAL activity in individual cells. Methods: Conventional and multispectral imaging flow cytometry was used to detect AGAL activity. Specificity was validated using the GLA knockout (KO) Jurkat cell line and AGAL inhibitor 1-deoxygalactonojirimycin. The GLA KO cell line was generated via CRISPR-Cas9-based transfection, validated with exome sequencing, gene expression and substrate accumulation. Results: Flow cytometric detection of specific AGAL activity is feasible with fluorescently labelled Gb3. In the case of Jurkat cells, a substrate concentration of 2.83 nmol/mL and 6 h of incubation are required. Quenching of the aspecific exofacial binding of Gb3 with 20% trypan blue solution is necessary for the specific detection of lysosomal substrate accumulation. Conclusion: A flow cytometry-based assay was developed for the quantitative detection of AGAL activity at the single-cell level, which may contribute to the diagnosis of Fabry patients.

Published
2024
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2. Enhancing Molecular Testing for Effective Delivery of Actionable Gene Diagnostics

Author

Árpád Ferenc Kovács, Zaránd Némethi, Tünde Abonyi, György Fekete, and Gábor T. Kovács

Subjects
actionable genetic diagnosis, nanopore sequencing, long-read sequencing, complex structural variants, single cells, genetic counselling, Technology, Biology (General), QH301-705.5
Abstract

There is a deep need to navigate within our genomic data to find, understand and pave the way for disease-specific treatments, as the clinical diagnostic journey provides only limited guidance. The human genome is enclosed in every nucleated cell, and yet at the single-cell resolution many unanswered questions remain, as most of the sequencing techniques use a bulk approach. Therefore, heterogeneity, mosaicism and many complex structural variants remain partially uncovered. As a conceptual approach, nanopore-based sequencing holds the promise of being a single-molecule-based, long-read and high-resolution technique, with the ability of uncovering the nucleic acid sequence and methylation almost in real time. A key limiting factor of current clinical genetics is the deciphering of key disease-causing genomic sequences. As the technological revolution is expanding regarding genetic data, the interpretation of genotype–phenotype correlations should be made with fine caution, as more and more evidence points toward the presence of more than one pathogenic variant acting together as a result of intergenic interplay in the background of a certain phenotype observed in a patient. This is in conjunction with the observation that many inheritable disorders manifest in a phenotypic spectrum, even in an intra-familial way. In the present review, we summarized the relevant data on nanopore sequencing regarding clinical genomics as well as highlighted the importance and content of pre-test and post-test genetic counselling, yielding a complex approach to phenotype-driven molecular diagnosis. This should significantly lower the time-to-right diagnosis as well lower the time required to complete a currently incomplete genotype–phenotype axis, which will boost the chance of establishing a new actionable diagnosis followed by therapeutical approach.

Published
2022
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3. Minimal information for studies of extracellular vesicles 2018 (MISEV2018): a position statement of the International Society for Extracellular Vesicles and update of the MISEV2014 guidelines

Author

Clotilde Théry, Kenneth W Witwer, Elena Aikawa, Maria Jose Alcaraz, Johnathon D Anderson, Ramaroson Andriantsitohaina, Anna Antoniou, Tanina Arab, Fabienne Archer, Georgia K Atkin-Smith, D Craig Ayre, Jean-Marie Bach, Daniel Bachurski, Hossein Baharvand, Leonora Balaj, Shawn Baldacchino, Natalie N Bauer, Amy A Baxter, Mary Bebawy, Carla Beckham, Apolonija Bedina Zavec, Abderrahim Benmoussa, Anna C Berardi, Paolo Bergese, Ewa Bielska, Cherie Blenkiron, Sylwia Bobis-Wozowicz, Eric Boilard, Wilfrid Boireau, Antonella Bongiovanni, Francesc E Borràs, Steffi Bosch, Chantal M Boulanger, Xandra Breakefield, Andrew M Breglio, Meadhbh Á Brennan, David R Brigstock, Alain Brisson, Marike LD Broekman, Jacqueline F Bromberg, Paulina Bryl-Górecka, Shilpa Buch, Amy H Buck, Dylan Burger, Sara Busatto, Dominik Buschmann, Benedetta Bussolati, Edit I Buzás, James Bryan Byrd, Giovanni Camussi, David RF Carter, Sarah Caruso, Lawrence W Chamley, Yu-Ting Chang, Chihchen Chen, Shuai Chen, Lesley Cheng, Andrew R Chin, Aled Clayton, Stefano P Clerici, Alex Cocks, Emanuele Cocucci, Robert J Coffey, Anabela Cordeiro-da-Silva, Yvonne Couch, Frank AW Coumans, Beth Coyle, Rossella Crescitelli, Miria Ferreira Criado, Crislyn D’Souza-Schorey, Saumya Das, Amrita Datta Chaudhuri, Paola de Candia, Eliezer F De Santana, Olivier De Wever, Hernando A del Portillo, Tanguy Demaret, Sarah Deville, Andrew Devitt, Bert Dhondt, Dolores Di Vizio, Lothar C Dieterich, Vincenza Dolo, Ana Paula Dominguez Rubio, Massimo Dominici, Mauricio R Dourado, Tom AP Driedonks, Filipe V Duarte, Heather M Duncan, Ramon M Eichenberger, Karin Ekström, Samir EL Andaloussi, Celine Elie-Caille, Uta Erdbrügger, Juan M Falcón-Pérez, Farah Fatima, Jason E Fish, Miguel Flores-Bellver, András Försönits, Annie Frelet-Barrand, Fabia Fricke, Gregor Fuhrmann, Susanne Gabrielsson, Ana Gámez-Valero, Chris Gardiner, Kathrin Gärtner, Raphael Gaudin, Yong Song Gho, Bernd Giebel, Caroline Gilbert, Mario Gimona, Ilaria Giusti, Deborah CI Goberdhan, André Görgens, Sharon M Gorski, David W Greening, Julia Christina Gross, Alice Gualerzi, Gopal N Gupta, Dakota Gustafson, Aase Handberg, Reka A Haraszti, Paul Harrison, Hargita Hegyesi, An Hendrix, Andrew F Hill, Fred H Hochberg, Karl F Hoffmann, Beth Holder, Harry Holthofer, Baharak Hosseinkhani, Guoku Hu, Yiyao Huang, Veronica Huber, Stuart Hunt, Ahmed Gamal-Eldin Ibrahim, Tsuneya Ikezu, Jameel M Inal, Mustafa Isin, Alena Ivanova, Hannah K Jackson, Soren Jacobsen, Steven M Jay, Muthuvel Jayachandran, Guido Jenster, Lanzhou Jiang, Suzanne M Johnson, Jennifer C Jones, Ambrose Jong, Tijana Jovanovic-Talisman, Stephanie Jung, Raghu Kalluri, Shin-ichi Kano, Sukhbir Kaur, Yumi Kawamura, Evan T Keller, Delaram Khamari, Elena Khomyakova, Anastasia Khvorova, Peter Kierulf, Kwang Pyo Kim, Thomas Kislinger, Mikael Klingeborn, David J Klinke, Miroslaw Kornek, Maja M Kosanović, Árpád Ferenc Kovács, Eva-Maria Krämer-Albers, Susanne Krasemann, Mirja Krause, Igor V Kurochkin, Gina D Kusuma, Sören Kuypers, Saara Laitinen, Scott M Langevin, Lucia R Languino, Joanne Lannigan, Cecilia Lässer, Louise C Laurent, Gregory Lavieu, Elisa Lázaro-Ibáñez, Soazig Le Lay, Myung-Shin Lee, Yi Xin Fiona Lee, Debora S Lemos, Metka Lenassi, Aleksandra Leszczynska, Isaac TS Li, Ke Liao, Sten F Libregts, Erzsebet Ligeti, Rebecca Lim, Sai Kiang Lim, Aija Linē, Karen Linnemannstöns, Alicia Llorente, Catherine A Lombard, Magdalena J Lorenowicz, Ákos M Lörincz, Jan Lötvall, Jason Lovett, Michelle C Lowry, Xavier Loyer, Quan Lu, Barbara Lukomska, Taral R Lunavat, Sybren LN Maas, Harmeet Malhi, Antonio Marcilla, Jacopo Mariani, Javier Mariscal, Elena S Martens-Uzunova, Lorena Martin-Jaular, M Carmen Martinez, Vilma Regina Martins, Mathilde Mathieu, Suresh Mathivanan, Marco Maugeri, Lynda K McGinnis, Mark J McVey, David G Meckes, Katie L Meehan, Inge Mertens, Valentina R Minciacchi, Andreas Möller, Malene Møller Jørgensen, Aizea Morales-Kastresana, Jess Morhayim, François Mullier, Maurizio Muraca, Luca Musante, Veronika Mussack, Dillon C Muth, Kathryn H Myburgh, Tanbir Najrana, Muhammad Nawaz, Irina Nazarenko, Peter Nejsum, Christian Neri, Tommaso Neri, Rienk Nieuwland, Leonardo Nimrichter, John P Nolan, Esther NM Nolte-’t Hoen, Nicole Noren Hooten, Lorraine O’Driscoll, Tina O’Grady, Ana O’Loghlen, Takahiro Ochiya, Martin Olivier, Alberto Ortiz, Luis A Ortiz, Xabier Osteikoetxea, Ole Østergaard, Matias Ostrowski, Jaesung Park, D. Michiel Pegtel, Hector Peinado, Francesca Perut, Michael W Pfaffl, Donald G Phinney, Bartijn CH Pieters, Ryan C Pink, David S Pisetsky, Elke Pogge von Strandmann, Iva Polakovicova, Ivan KH Poon, Bonita H Powell, Ilaria Prada, Lynn Pulliam, Peter Quesenberry, Annalisa Radeghieri, Robert L Raffai, Stefania Raimondo, Janusz Rak, Marcel I Ramirez, Graça Raposo, Morsi S Rayyan, Neta Regev-Rudzki, Franz L Ricklefs, Paul D Robbins, David D Roberts, Silvia C Rodrigues, Eva Rohde, Sophie Rome, Kasper MA Rouschop, Aurelia Rughetti, Ashley E Russell, Paula Saá, Susmita Sahoo, Edison Salas-Huenuleo, Catherine Sánchez, Julie A Saugstad, Meike J Saul, Raymond M Schiffelers, Raphael Schneider, Tine Hiorth Schøyen, Aaron Scott, Eriomina Shahaj, Shivani Sharma, Olga Shatnyeva, Faezeh Shekari, Ganesh Vilas Shelke, Ashok K Shetty, Kiyotaka Shiba, Pia R-M Siljander, Andreia M Silva, Agata Skowronek, Orman L Snyder, Rodrigo Pedro Soares, Barbara W Sódar, Carolina Soekmadji, Javier Sotillo, Philip D Stahl, Willem Stoorvogel, Shannon L Stott, Erwin F Strasser, Simon Swift, Hidetoshi Tahara, Muneesh Tewari, Kate Timms, Swasti Tiwari, Rochelle Tixeira, Mercedes Tkach, Wei Seong Toh, Richard Tomasini, Ana Claudia Torrecilhas, Juan Pablo Tosar, Vasilis Toxavidis, Lorena Urbanelli, Pieter Vader, Bas WM van Balkom, Susanne G van der Grein, Jan Van Deun, Martijn JC van Herwijnen, Kendall Van Keuren-Jensen, Guillaume van Niel, Martin E van Royen, Andre J van Wijnen, M Helena Vasconcelos, Ivan J Vechetti, Tiago D Veit, Laura J Vella, Émilie Velot, Frederik J Verweij, Beate Vestad, Jose L Viñas, Tamás Visnovitz, Krisztina V Vukman, Jessica Wahlgren, Dionysios C Watson, Marca HM Wauben, Alissa Weaver, Jason P Webber, Viktoria Weber, Ann M Wehman, Daniel J Weiss, Joshua A Welsh, Sebastian Wendt, Asa M Wheelock, Zoltán Wiener, Leonie Witte, Joy Wolfram, Angeliki Xagorari, Patricia Xander, Jing Xu, Xiaomei Yan, María Yáñez-Mó, Hang Yin, Yuana Yuana, Valentina Zappulli, Jana Zarubova, Vytautas Žėkas, Jian-ye Zhang, Zezhou Zhao, Lei Zheng, Alexander R Zheutlin, Antje M Zickler, Pascale Zimmermann, Angela M Zivkovic, Davide Zocco, and Ewa K Zuba-Surma

Subjects
extracellular vesicles, exosomes, ectosomes, microvesicles, minimal information requirements, guidelines, standardization, microparticles, rigor, reproducibility, Cytology, QH573-671
Abstract

The last decade has seen a sharp increase in the number of scientific publications describing physiological and pathological functions of extracellular vesicles (EVs), a collective term covering various subtypes of cell-released, membranous structures, called exosomes, microvesicles, microparticles, ectosomes, oncosomes, apoptotic bodies, and many other names. However, specific issues arise when working with these entities, whose size and amount often make them difficult to obtain as relatively pure preparations, and to characterize properly. The International Society for Extracellular Vesicles (ISEV) proposed Minimal Information for Studies of Extracellular Vesicles (“MISEV”) guidelines for the field in 2014. We now update these “MISEV2014” guidelines based on evolution of the collective knowledge in the last four years. An important point to consider is that ascribing a specific function to EVs in general, or to subtypes of EVs, requires reporting of specific information beyond mere description of function in a crude, potentially contaminated, and heterogeneous preparation. For example, claims that exosomes are endowed with exquisite and specific activities remain difficult to support experimentally, given our still limited knowledge of their specific molecular machineries of biogenesis and release, as compared with other biophysically similar EVs. The MISEV2018 guidelines include tables and outlines of suggested protocols and steps to follow to document specific EV-associated functional activities. Finally, a checklist is provided with summaries of key points.

Published
2018
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4. Unravelling the Role of Trophoblastic-Derived Extracellular Vesicles in Regulatory T Cell Differentiation

Author

Árpád Ferenc Kovács, Nóra Fekete, Lilla Turiák, András Ács, László Kőhidai, Edit I. Buzás, and Éva Pállinger

Subjects
extracellular vesicles, EVs, HSPE1, miRNA, C19MC, regulatory T cells, Biology (General), QH301-705.5, Chemistry, QD1-999
Abstract

Regulatory T cells (Treg) are mandatory elements in the maintenance of human pregnancy, but their de novo differentiation has not been completely exposed. HSPE1 chaperone expressing trophoblast cells may have a role in it. Trophoblast-derived extracellular vesicles (EVs), either at the feto−maternal interface or in circulation, target CD4+ T cells. We hypothesized that HSPE1-associated trophoblastic cell line (BeWo)-derived EVs are active mediators of Treg cell differentiation. We proved at first that recombinant HSPE1 promote human Treg cell differentiation in vitro. Developing a CRISPR-Cas9 based HSPE1 knockout BeWo cell line we could also demonstrate, that EV-associated HSPE1 induces Treg development. Next-generation sequencing of miRNA cargo of BeWo-EVs characterized the regulatory processes of Treg polarization. By the use of single-cell transcriptomics analysis, seven Treg cell subtypes were distinguished and we demonstrated for the first time that the expression level of HSPE1 was Treg subtype dependent, and CAPG expression is characteristic to memory phenotype of T cells. Our data indicate that HSPE1 and CAPG may be used as markers for identification of Treg subtypes. Our results suggest, that trophoblastic-derived iEVs-associated HSPE1 and miRNA cargo have an important role in Treg cell expansion in vitro and HSPE1 is a useful marker of Treg subtype characterization.

Published
2019
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