GBA-associated PD: chances and obstacles for targeted treatment strategies

Autor: Günter Höglinger, Claudia Schulte, Wolfgang H. Jost, Alexander Storch, Dirk Woitalla, Rejko Krüger, Björn Falkenburger, Kathrin Brockmann

Publikováno v: Journal of neural transmission 129(9), 1219-1233 (2022). doi:10.1007/s00702-022-02511-7

Given the clear role of GBA in the pathogenesis of Parkinson’s disease (PD) and its impact on phenotypical characteristics, this review provides an overview of the current knowledge of GBA-associated PD with a special focus on clinical trajectories

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e08d3c9aa141e5f955f24c955360bf43
https://doi.org/10.1007/s00702-022-02511-7

Host Genomics of the HIV-1 Reservoir Size and Its Decay Rate During Suppressive Antiretroviral Treatment

Autor: Sabine Yerly, Karin J. Metzner, Enos Bernasconi, Jasmina Bogojeska, Niko Beerenwinkel, Volker Roth, Chantal von Siebenthal, Alessandro Borghesi, Nadine Bachmann, Thomas Klimkait, Sonali Parbhoo, Manuel Battegay, Roger D. Kouyos, Mario Wieser, Andri Rauch, Christian W. Thorball, Teja Turk, Yik Lim Kok, Huldrych F. Günthard, Kathrin Neumann, Matthias Cavassini, Patrick Schmid, Valentina Vongrad, Matthieu Perreau, Jacques Fellay, Jürg Böni

Publikováno v: Journal of Acquired Immune Deficiency Syndromes, Vol. 85, No 4 (2020) pp. 517-524
Thorball, Christian W; Borghesi, Alessandro; Bachmann, Nadine; Von Siebenthal, Chantal; Vongrad, Valentina; Turk, Teja; Neumann, Kathrin; Beerenwinkel, Niko; Bogojeska, Jasmina; Roth, Volker; Kok, Yik Lim; Parbhoo, Sonali; Wieser, Mario; Böni, Jürg; Perreau, Matthieu; Klimkait, Thomas; Yerly, Sabine; Battegay, Manuel; Rauch, Andri; Schmid, Patrick; ... (2020). Host genomics of the HIV-1 reservoir size and its decay rate during suppressive antiretroviral treatment. Journal of acquired immune deficiency syndromes, 85(4), pp. 517-524. Wolters Kluwer Health 10.1097/QAI.0000000000002473

Background: The primary hurdle for the eradication of HIV-1 is the establishment of a latent viral reservoir early after primary infection. Here, we investigated the potential influence of human genetic variation on the HIV-1 reservoir size and its d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2073561adbafb5487f68967cb26d30e8
https://doi.org/10.1097/qai.0000000000002473

Real-world experience with capmatinib in MET exon 14-mutated non-small cell lung cancer (RECAP): a retrospective analysis from an early access program

Autor: Oliver Illini, Hannah Fabikan, Aurélie Swalduz, Anders Vikström, Dagmar Krenbek, Michael Schumacher, Elizabeth Dudnik, Michael Studnicka, Ronny Öhman, Robert Wurm, Luciano Wannesson, Nir Peled, Waleed Kian, Jair Bar, Sameh Daher, Alfredo Addeo, Ofer Rotem, Georg Pall, Alona Zer, Akram Saad, Tanja Cufer, Hadas Gantz Sorotsky, Sayed M. S. Hashemi, Katja Mohorcic, Ronen Stoff, Yulia Rovitsky, Shoshana Keren-Rosenberg, Thomas Winder, Christoph Weinlinger, Arschang Valipour, Maximilian J. Hochmair

Publikováno v: Therapeutic Advances in Medical Oncology, 14. SAGE Publications Inc.
Therapeutic advances in medical oncology, vol. 14, pp. 1-22, 2022.
Illini, O, Fabikan, H, Swalduz, A, Vikström, A, Krenbek, D, Schumacher, M, Dudnik, E, Studnicka, M, Öhman, R, Wurm, R, Wannesson, L, Peled, N, Kian, W, Bar, J, Daher, S, Addeo, A, Rotem, O, Pall, G, Zer, A, Saad, A, Cufer, T, Sorotsky, H G, Hashemi, S M S, Mohorcic, K, Stoff, R, Rovitsky, Y, Keren-Rosenberg, S, Winder, T, Weinlinger, C, Valipour, A & Hochmair, M J 2022, ' Real-world experience with capmatinib in MET exon 14-mutated non-small cell lung cancer (RECAP) : a retrospective analysis from an early access program ', Therapeutic Advances in Medical Oncology, vol. 14 . https://doi.org/10.1177/17588359221103206, https://doi.org/10.1177/17588359221103206

Background: Patients with non-small cell lung cancer (NSCLC) presenting with mesenchymal–epithelial transition ( MET) exon 14 skipping mutation have an unfavorable prognosis with standard treatments. Capmatinib is a selective MET inhibitor, which s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db862aef7575b35683811d5d7626aa21
https://research.vumc.nl/en/publications/592f783c-ba18-49d9-bc6f-f98cf8baa811

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GRIN2Bencephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

Autor: Arndt Rolfs, Douglas R. Smith, Hongjie Yuan, Markus Wolff, Eirik Frengen, Sarah E Parisotto, Mark A. Tarnopolsky, John Millichap, Katherine L. Helbig, Christian Korff, Lutz Dondit, Anna-Elina Lehesjoki, Alison M. Muir, Brad T. Tinkle, Heather C Mefford, Bodo Laube, Anne T. Berg, Wen-Hann Tan, Kelly L. Jones, Floor E. Jansen, Christine M. Stanley, Candace T. Myers, Isabelle De Bie, John A. Lawson, Henrike O. Heyne, Wenjuan Chen, David Neal Franz, Julie R. Jones, Elysa J. Marco, Nataliya Di Donato, Cyril Mignot, Jasper J. van der Smagt, Stephen F. Traynelis, Tarja Linnankivi, Tim M. Strom, Hirofumi Kusumoto, Rena Vanzo, Petter Strømme, Uffe Birk Jensen, Amy Lacroix, Darius J Adams, Chun Hu, Boris Keren, Sha Tang, Richard J. Leventer, Johannes R. Lemke, Levinus A. Bok, Helio Pedro, Rami Abou Jamra, Dianalee McKnight, Ethan M. Goldberg, Tony Roscioli, Lauren Brady, Konrad Platzer, Philippe Major, Amy Decker, Anup D. Patel, Marcia C. Willing, Ingrid E. Scheffer, Mark Mintz, Eva H. Brilstra, Carolina Courage, Lynette G. Sadleir, Alexander Winschel, William B. Dobyns, Stephanie Fox, Emmanuelle Ranza, Saskia Biskup, Dennis Döcker, Judith D. Ranells, Rikke S. Møller, Elaine H. Zackai, Hannah Schütz, Mieke M. van Haelst, Christel Depienne

Publikováno v: Journal of Medical Genetics, 54(7), 460. BMJ Publishing Group
Journal of Medical Genetics, 54(7), 460-470. BMJ Publishing Group
J. Med. Genet. 54, 460-470 (2017)
Platzer, K, Yuan, H, Schuetz, H, Winschel, A, Chen, W, Hu, C, Kusumoto, H, Heyne, H O, Helbig, K L, Tang, S, Willing, M C, Tinkle, B T, Adams, D J, Depienne, C, Keren, B, Mignot, C, Frengen, E, Stromme, P, Biskup, S, Doecker, D, Strom, T M, Mefford, H C, Myers, C T, Muir, A M, LaCroix, A, Sadleir, L, Scheffer, I E, Brilstra, E, van Haelst, M M, van der Smagt, J J, Bok, L A, Moller, R S, Jensen, U B, Millichap, J J, Berg, A T, Goldberg, E M, De Bie, I, Fox, S, Major, P, Jones, J R, Zackai, E H, Abou Jamra, R, Rolfs, A, Leventer, R J, Lawson, J A, Roscioli, T, Jansen, F E, Ranza, E, Korff, C M, Lehesjoki, A-E, Courage, C, Linnankivi, T, Smith, D R, Stanley, C, Mintz, M, McKnight, D, Decker, A, Tan, W-H, Tarnopolsky, M A, Brady, L I, Wolff, M, Dondit, L, Pedro, H F, Parisotto, S E, Jones, K L, Patel, A D, Franz, D N, Vanzo, R, Marco, E, Ranells, J D, Di Donato, N, Dobyns, W B, Laube, B, Traynelis, S F & Lemke, J R 2017, ' GRIN2B encephalopathy : novel findings on phenotype, variant clustering, functional consequences and treatment aspects ', Journal of Medical Genetics, vol. 54, no. 7, pp. 460-470 . https://doi.org/10.1136/jmedgenet-2016-104509
Platzer, K, Yuan, H, Schütz, H, Winschel, A, Chen, W, Hu, C, Kusumoto, H, Heyne, H O, Helbig, K L, Tang, S, Willing, M C, Tinkle, B T, Adams, D J, Depienne, C, Keren, B, Mignot, C, Frengen, E, Strømme, P, Biskup, S, Döcker, D, Strom, T M, Mefford, H C, Myers, C T, Muir, A M, LaCroix, A, Sadleir, L, Scheffer, I E, Brilstra, E, van Haelst, M M, van der Smagt, J J, Bok, L A, Møller, R S, Jensen, U B, Millichap, J J, Berg, A T, Goldberg, E M, De Bie, I, Fox, S, Major, P, Jones, J R, Zackai, E H, Abou Jamra, R, Rolfs, A, Leventer, R J, Lawson, J A, Roscioli, T, Jansen, F E, Ranza, E, Korff, C M, Lehesjoki, A E, Courage, C, Linnankivi, T, Smith, D R, Stanley, C, Mintz, M, McKnight, D, Decker, A, Tan, W H, Tarnopolsky, M A, Brady, L I, Wolff, M, Dondit, L, Pedro, H F, Parisotto, S E, Jones, K L, Patel, A D, Franz, D N, Vanzo, R, Marco, E, Ranells, J D, Di Donato, N, Dobyns, W B, Laube, B, Traynelis, S F & Lemke, J R 2017, ' GRIN2B encephalopathy : Novel findings on phenotype, variant clustering, functional consequences and treatment aspects ', Journal of Medical Genetics, vol. 54, no. 7, pp. 460-470 . https://doi.org/10.1136/jmedgenet-2016-104509
Journal of Medical Genetics, Vol. 54, No 7 (2017) pp. 460-470
Platzer, K, Yuan, H, Schütz, H, Winschel, A, Chen, W, Hu, C, Kusumoto, H, Heyne, H O, Helbig, K L, Tang, S, Willing, M C, Tinkle, B T, Adams, D J, Depienne, C, Keren, B, Mignot, C, Frengen, E, Strømme, P, Biskup, S, Döcker, D, Strom, T M, Mefford, H C, Myers, C T, Muir, A M, LaCroix, A J, Sadleir, L G, Scheffer, I E, Brilstra, E, van Haelst, M M, van der Smagt, J J, Bok, L A, Møller, R S, Jensen, U B, Millichap, J J, Berg, A T, Goldberg, E M, De Bie, I, Fox, S, Major, P, Jones, J R, Zackai, E H, Abou Jamra, R, Rolfs, A, Leventer, R J, Lawson, J A, Roscioli, T, Jansen, F E, Ranza, E, Korff, C M, Lehesjoki, A-E, Courage, C, Linnankivi, T, Smith, D R, Stanley, C, Mintz, M, McKnight, D, Decker, A, Tan, W-H, Tarnopolsky, M A, Brady, L I, Wolff, M, Dondit, L, Pedro, H F, Parisotto, S E, Jones, K L, Patel, A D, Franz, D N, Vanzo, R, Marco, E, Ranells, J D, Di Donato, N, Dobyns, W B, Laube, B, Traynelis, S F & Lemke, J R 2017, ' GRIN2B encephalopathy : novel findings on phenotype, variant clustering, functional consequences and treatment aspects ', Journal of Medical Genetics, vol. 54, no. 7, pp. 460-470 . https://doi.org/10.1136/jmedgenet-2016-104509

BACKGROUND: We aimed for a comprehensive delineation of genetic, functional and phenotypic aspects of GRIN2B encephalopathy and explored potential prospects of personalised medicine.METHODS: Data of 48 individuals with de novo GRIN2B variants were co

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::edfc4236ee8b7ba9c88542cfdf4fb25f
https://doi.org/10.1136/jmedgenet-2016-104509