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2. Germline AGO2 mutations impair RNA interference and human neurological development

Author

Lessel, Davor, Zeitler, Daniela M., Reijnders, Margot R. F., Kazantsev, Andriy, Hassani Nia, Fatemeh, Bartholomäus, Alexander, Martens, Victoria, Bruckmann, Astrid, Graus, Veronika, McConkie-Rosell, Allyn, McDonald, Marie, Lozic, Bernarda, Tan, Ee-Shien, Gerkes, Erica, Johannsen, Jessika, Denecke, Jonas, Telegrafi, Aida, Zonneveld-Huijssoon, Evelien, Lemmink, Henny H., Cham, Breana W. M., Kovacevic, Tanja, Ramsdell, Linda, Foss, Kimberly, Le Duc, Diana, Mitter, Diana, Syrbe, Steffen, Merkenschlager, Andreas, Sinnema, Margje, Panis, Bianca, Lazier, Joanna, Osmond, Matthew, Hartley, Taila, Mortreux, Jeremie, Busa, Tiffany, Missirian, Chantal, Prasun, Pankaj, Lüttgen, Sabine, Mannucci, Ilaria, Lessel, Ivana, Schob, Claudia, Kindler, Stefan, Pappas, John, Rabin, Rachel, Willemsen, Marjolein, Gardeitchik, Thatjana, Löhner, Katharina, Rump, Patrick, Dias, Kerith-Rae, Evans, Carey-Anne, Andrews, Peter Ian, Roscioli, Tony, Brunner, Han G., Chijiwa, Chieko, Lewis, M. E. Suzanne, Jamra, Rami Abou, Dyment, David A., Boycott, Kym M., Stegmann, Alexander P. A., Kubisch, Christian, Tan, Ene-Choo, Mirzaa, Ghayda M., McWalter, Kirsty, Kleefstra, Tjitske, Pfundt, Rolph, Ignatova, Zoya, Meister, Gunter, and Kreienkamp, Hans-Jürgen

Published
2020
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3. Dysfunction of the MDM2/p53 axis is linked to premature aging

Author

Lessel, Davor, Wu, Danyi, Trujillo, Carlos, Ramezani, Thomas, Lessel, Ivana, Alwasiyah, Mohammad K., Saha, Bidisha, Hisama, Fuki M., Rading, Katrin, Goebel, Ingrid, Schutz, Petra, Hogel, Gunter SpeiJosef, Thiele, Holger, Nurnberg, Gudrun, Nurnberg, Peter, Hammerschmid, Matthias, Zhu, Yan, Tong, David R., Katz, Chen, Martin, George M., Oshima, Junko, Prives, Carol, and Kubisch, Christian

Subjects
Ubiquitin -- Research, Apoptosis -- Research, Ionizing radiation -- Analysis, Gene mutation -- Analysis -- Research, Health care industry
Abstract

The tumor suppressor p53, a master regulator of the cellular response to stress, is tightly regulated by the E3 ubiquitin ligase MDM2 via an autoregulatory feedback loop. In addition to its well-established role in tumorigenesis, p53 has also been associated with aging in mice. Several mouse models with aberrantly increased p53 activity display signs of premature aging. However, the relationship between dysfunction of the MDM2/p53 axis and human aging remains elusive. Here, we have identified an antiterminating homozygous germline mutation in MDM2 in a patient affected by a segmental progeroid syndrome. We show that this mutation abrogates MDM2 activity, thereby resulting in enhanced levels and stability of p53. Analysis of the patient's primary cells, genome-edited cells, and in vitro and in vivo analyses confirmed the MDM2 mutation's aberrant regulation of p53 activity. Functional data from a zebrafish model further demonstrated that mutant Mdm2 was unable to rescue a p53-induced apoptotic phenotype. Altogether, our findings indicate that mutant MDM2 is a likely driver of the observed segmental form of progeria., Introduction Two compelling lines of evidence establish p53 as a major tumor suppressor in humans. First, heterozygous germline mutations in the p53-encoding gene TP53 cause Li-Fraumeni syndrome, an autosomal-dominant and [...]

Published
2017
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4. BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells

Author

Lessel, Davor, Gehbauer, Christina, Bramswig, Nuria C., Schluth-Bolard, Caroline, Venkataramanappa, Sathish, van Gassen, Koen L. I., Hempel, Maja, Haack, Tobias B., Baresic, Anja, Genetti, Casie A., Funari, Mariana F. A., Lessel, Ivana, Kuhlmann, Leonie, Simon, Ruth, Liu, Pentao, Denecke, Jonas, Kuechler, Alma, de Kruijff, Ineke, Shoukier, Moneef, Lek, Monkol, Mullen, Thomas, Luedecke, Hermann-Josef, Lerario, Antonio M., Kobbe, Robin, Krieger, Thorsten, Demeer, Benedicte, Lebrun, Marine, Keren, Boris, Nava, Caroline, Buratti, Julien, Afenjar, Alexandra, Shinawi, Marwan, Sacoto, Maria J. Guillen, Gauthier, Julie, Hamdan, Fadi F., Laberge, Anne-Marie, Campeau, Philippe M., Louie, Raymond J., Cathey, Sara S., Prinz, Immo, Jorge, Alexander A. L., Terhal, Paulien A., Lenhard, Boris, Wieczorek, Dagmar, Strom, Tim M., Agrawal, Pankaj B., Britsch, Stefan, Tolosa, Eva, Kubisch, Christian, Lessel, Davor, Gehbauer, Christina, Bramswig, Nuria C., Schluth-Bolard, Caroline, Venkataramanappa, Sathish, van Gassen, Koen L. I., Hempel, Maja, Haack, Tobias B., Baresic, Anja, Genetti, Casie A., Funari, Mariana F. A., Lessel, Ivana, Kuhlmann, Leonie, Simon, Ruth, Liu, Pentao, Denecke, Jonas, Kuechler, Alma, de Kruijff, Ineke, Shoukier, Moneef, Lek, Monkol, Mullen, Thomas, Luedecke, Hermann-Josef, Lerario, Antonio M., Kobbe, Robin, Krieger, Thorsten, Demeer, Benedicte, Lebrun, Marine, Keren, Boris, Nava, Caroline, Buratti, Julien, Afenjar, Alexandra, Shinawi, Marwan, Sacoto, Maria J. Guillen, Gauthier, Julie, Hamdan, Fadi F., Laberge, Anne-Marie, Campeau, Philippe M., Louie, Raymond J., Cathey, Sara S., Prinz, Immo, Jorge, Alexander A. L., Terhal, Paulien A., Lenhard, Boris, Wieczorek, Dagmar, Strom, Tim M., Agrawal, Pankaj B., Britsch, Stefan, Tolosa, Eva, and Kubisch, Christian

Published
2018

5. BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells

Author

Genetica Sectie Genoomdiagnostiek, Child Health, Genetica Klinische Genetica, Lessel, Davor, Gehbauer, Christina, Bramswig, Nuria C., Schluth-Bolard, Caroline, Venkataramanappa, Sathish, van Gassen, Koen L. I., Hempel, Maja, Haack, Tobias B., Baresic, Anja, Genetti, Casie A., Funari, Mariana F. A., Lessel, Ivana, Kuhlmann, Leonie, Simon, Ruth, Liu, Pentao, Denecke, Jonas, Kuechler, Alma, de Kruijff, Ineke, Shoukier, Moneef, Lek, Monkol, Mullen, Thomas, Luedecke, Hermann-Josef, Lerario, Antonio M., Kobbe, Robin, Krieger, Thorsten, Demeer, Benedicte, Lebrun, Marine, Keren, Boris, Nava, Caroline, Buratti, Julien, Afenjar, Alexandra, Shinawi, Marwan, Sacoto, Maria J. Guillen, Gauthier, Julie, Hamdan, Fadi F., Laberge, Anne-Marie, Campeau, Philippe M., Louie, Raymond J., Cathey, Sara S., Prinz, Immo, Jorge, Alexander A. L., Terhal, Paulien A., Lenhard, Boris, Wieczorek, Dagmar, Strom, Tim M., Agrawal, Pankaj B., Britsch, Stefan, Tolosa, Eva, Kubisch, Christian, Genetica Sectie Genoomdiagnostiek, Child Health, Genetica Klinische Genetica, Lessel, Davor, Gehbauer, Christina, Bramswig, Nuria C., Schluth-Bolard, Caroline, Venkataramanappa, Sathish, van Gassen, Koen L. I., Hempel, Maja, Haack, Tobias B., Baresic, Anja, Genetti, Casie A., Funari, Mariana F. A., Lessel, Ivana, Kuhlmann, Leonie, Simon, Ruth, Liu, Pentao, Denecke, Jonas, Kuechler, Alma, de Kruijff, Ineke, Shoukier, Moneef, Lek, Monkol, Mullen, Thomas, Luedecke, Hermann-Josef, Lerario, Antonio M., Kobbe, Robin, Krieger, Thorsten, Demeer, Benedicte, Lebrun, Marine, Keren, Boris, Nava, Caroline, Buratti, Julien, Afenjar, Alexandra, Shinawi, Marwan, Sacoto, Maria J. Guillen, Gauthier, Julie, Hamdan, Fadi F., Laberge, Anne-Marie, Campeau, Philippe M., Louie, Raymond J., Cathey, Sara S., Prinz, Immo, Jorge, Alexander A. L., Terhal, Paulien A., Lenhard, Boris, Wieczorek, Dagmar, Strom, Tim M., Agrawal, Pankaj B., Britsch, Stefan, Tolosa, Eva, and Kubisch, Christian

Published
2018

6. BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells

Author

Lessel, Davor, primary, Gehbauer, Christina, additional, Bramswig, Nuria C, additional, Schluth-Bolard, Caroline, additional, Venkataramanappa, Sathish, additional, van Gassen, Koen L I, additional, Hempel, Maja, additional, Haack, Tobias B, additional, Baresic, Anja, additional, Genetti, Casie A, additional, Funari, Mariana F A, additional, Lessel, Ivana, additional, Kuhlmann, Leonie, additional, Simon, Ruth, additional, Liu, Pentao, additional, Denecke, Jonas, additional, Kuechler, Alma, additional, de Kruijff, Ineke, additional, Shoukier, Moneef, additional, Lek, Monkol, additional, Mullen, Thomas, additional, Lüdecke, Hermann-Josef, additional, Lerario, Antonio M, additional, Kobbe, Robin, additional, Krieger, Thorsten, additional, Demeer, Benedicte, additional, Lebrun, Marine, additional, Keren, Boris, additional, Nava, Caroline, additional, Buratti, Julien, additional, Afenjar, Alexandra, additional, Shinawi, Marwan, additional, Guillen Sacoto, Maria J, additional, Gauthier, Julie, additional, Hamdan, Fadi F, additional, Laberge, Anne-Marie, additional, Campeau, Philippe M, additional, Louie, Raymond J, additional, Cathey, Sara S, additional, Prinz, Immo, additional, Jorge, Alexander A L, additional, Terhal, Paulien A, additional, Lenhard, Boris, additional, Wieczorek, Dagmar, additional, Strom, Tim M, additional, Agrawal, Pankaj B, additional, Britsch, Stefan, additional, Tolosa, Eva, additional, and Kubisch, Christian, additional

Published
2018
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