YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress
De Franco, Elisa, Lytrivi, Maria, Ibrahim, Hazem, Montaser, Hossam, Wakeling, Matthew N, Fantuzzi, Federica, Patel, Kashyap, Demarez, Céline, Cai, Ying, Igoillo-Esteve, Mariana, Cosentino, Cristina, Lithovius, Väinö, Vihinen, Helena, Jokitalo, Eija, Laver, Thomas W, Johnson, Matthew B, Sawatani, Toshiaki, Shakeri, Hadis, Pachera, Nathalie, Haliloglu, Belma, Ozbek, Mehmet Nuri, Unal, Edip, Yıldırım, Ruken, Godbole, Tushar, Yildiz, Melek, Aydin, Banu, Bilheu, Angeline, Suzuki, Ikuo, Flanagan, Sarah E, Vanderhaeghen, Pierre, Senée, Valérie, Julier, Cécile, Marchetti, Piero, Eizirik, Decio L, Ellard, Sian, Saarimäki-Vire, Jonna, Otonkoski, Timo, Cnop, Miriam, Hattersley, Andrew T
Published in The Journal of clinical investigation (01.12.2020)
Published in The Journal of clinical investigation (01.12.2020)
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Heterozygous inactivation of plasma membrane Ca2+-ATPase in mice increases glucose-induced insulin release and beta cell proliferation, mass and viability
Pachera, Nathalie, Papin, Julien, Zummo, Francesco P., Rahier, Jacques, Mast, Jan, Meyerovich, Kira, Cardozo, Alessandra K., Herchuelz, André
Published in Diabetologia (01.12.2015)
Published in Diabetologia (01.12.2015)
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In depth functional characterization of human induced pluripotent stem cell-derived beta cells in vitro and in vivo
Fantuzzi, Federica, Toivonen, Sanna, Schiavo, Andrea Alex, Chae, Heeyoung, Tariq, Mohammad, Sawatani, Toshiaki, Pachera, Nathalie, Cai, Ying, Vinci, Chiara, Virgilio, Enrico, Ladriere, Laurence, Suleiman, Mara, Marchetti, Piero, Jonas, Jean-Christophe, Gilon, Patrick, Eizirik, Décio L, Igoillo-Esteve, Mariana, Cnop, Miriam
Published in Frontiers in cell and developmental biology (17.08.2022)
Published in Frontiers in cell and developmental biology (17.08.2022)
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Pancreatic β-cell tRNA hypomethylation and fragmentation link TRMT10A deficiency with diabetes
Cosentino, Cristina, Toivonen, Sanna, Diaz Villamil, Esteban, Atta, Mohamed, Ravanat, Jean-Luc, Demine, Stéphane, Schiavo, Andrea Alex, Pachera, Nathalie, Deglasse, Jean-Philippe, Jonas, Jean-Christophe, Balboa, Diego, Otonkoski, Timo, Pearson, Ewan R, Marchetti, Piero, Eizirik, Décio L, Cnop, Miriam, Igoillo-Esteve, Mariana
Published in Nucleic acids research (02.11.2018)
Published in Nucleic acids research (02.11.2018)
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GLP-1R agonists demonstrate potential to treat Wolfram syndrome in human preclinical models
Gorgogietas, Vyron, Rajaei, Bahareh, Heeyoung, Chae, Santacreu, Bruno J., Marín-Cañas, Sandra, Salpea, Paraskevi, Sawatani, Toshiaki, Musuaya, Anyishai, Arroyo, María N., Moreno-Castro, Cristina, Benabdallah, Khadija, Demarez, Celine, Toivonen, Sanna, Cosentino, Cristina, Pachera, Nathalie, Lytrivi, Maria, Cai, Ying, Carnel, Lode, Brown, Cris, Urano, Fumihiko, Marchetti, Piero, Gilon, Patrick, Eizirik, Decio L., Cnop, Miriam, Igoillo-Esteve, Mariana
Published in Diabetologia (01.07.2023)
Published in Diabetologia (01.07.2023)
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DNAJC3 deficiency induces β-cell mitochondrial apoptosis and causes syndromic young-onset diabetes
Lytrivi, Maria, Senée, Valérie, Salpea, Paraskevi, Fantuzzi, Federica, Philippi, Anne, Abdulkarim, Baroj, Sawatani, Toshiaki, Marín-Cañas, Sandra, Pachera, Nathalie, Degavre, Anne, Singh, Pratibha, Derbois, Céline, Lechner, Doris, Ladrière, Laurence, Igoillo-Esteve, Mariana, Cosentino, Cristina, Marselli, Lorella, Deleuze, Jean-François, Marchetti, Piero, Eizirik, Décio L, Nicolino, Marc, Chaussenot, Annabelle, Julier, Cécile, Cnop, Miriam
Published in European journal of endocrinology (01.03.2021)
Published in European journal of endocrinology (01.03.2021)
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MCL-1 Is a Key Antiapoptotic Protein in Human and Rodent Pancreatic β-Cells
Meyerovich, Kira, Violato, Natalia M, Fukaya, Makiko, Dirix, Violette, Pachera, Nathalie, Marselli, Lorella, Marchetti, Piero, Strasser, Andreas, Eizirik, Decio L, Cardozo, Alessandra K
Published in Diabetes (New York, N.Y.) (01.09.2017)
Published in Diabetes (New York, N.Y.) (01.09.2017)
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Journal Article
Heterozygous inactivation of plasma membrane Ca(2+)-ATPase in mice increases glucose-induced insulin release and beta cell proliferation, mass and viability
Pachera, Nathalie, Papin, Julien, Zummo, Francesco P, Rahier, Jacques, Mast, Jan, Meyerovich, Kira, Cardozo, Alessandra K, Herchuelz, André
Published in Diabetologia (01.12.2015)
Published in Diabetologia (01.12.2015)
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MCL-1 Is a Key Antiapoptotic Protein in Human and Rodent Pancreatic ß-Cells
Meyerovich, Kira, Violato, Natalia M, Fukaya, Makiko, Dirix, Violette, Pachera, Nathalie, Marselli, Lorella, Marchetti, Piero, Strasser, Andreas, Eizirik, Decio L, Cardozo, Alessandra K
Published in Diabetes (New York, N.Y.) (01.09.2017)
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Published in Diabetes (New York, N.Y.) (01.09.2017)
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Exenatide induces frataxin expression and improves mitochondrial function in Friedreich ataxia
Igoillo-Esteve, Mariana, Oliveira, Ana F, Cosentino, Cristina, Fantuzzi, Federica, Demarez, Céline, Toivonen, Sanna, Hu, Amélie, Chintawar, Satyan, Lopes, Miguel, Pachera, Nathalie, Cai, Ying, Abdulkarim, Baroj, Rai, Myriam, Marselli, Lorella, Marchetti, Piero, Tariq, Mohammad, Jonas, Jean-Christophe, Boscolo, Marina, Pandolfo, Massimo, Eizirik, Décio L, Cnop, Miriam
Published in JCI insight (30.01.2020)
Published in JCI insight (30.01.2020)
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Journal Article
YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress
De Franco, Elisa, Lytrivi, Maria, Ibrahim, Hazem, Montaser, Hossam, Wakeling, Matthew N, Fantuzzi, Federica, Patel, Kashyap, Demarez, Celine, Cai, Ying, Igoillo-Esteve, Mariana, Cosentino, Cristina, Lithovius, Vaino, Vihinen, Helena, Jokitalo, Eija, Laver, Thomas W, Johnson, Matthew B, Sawatani, Toshiaki, Shakeri, Hadis, Pachera, Nathalie, Haliloglu, Belma, Ozbek, Mehmet Nuri, Unal, Edip, Yildirim, Ruken, Godbole, Tushar, Yildiz, Melek, Aydin, Banu, Bilheu, Angeline, Suzuki, Ikuo, Flanagan, Sarah E, Vanderhaeghen, Pierre, Senee, Valerie, Julier, Cecile, Marchetti, Piero, Eizirik, Decio L, Ellard, Sian, Saarimaki-Vire, Jonna, Otonkoski, Timo, Cnop, Miriam, Hattersley, Andrew T
Published in The Journal of clinical investigation (01.12.2020)
Published in The Journal of clinical investigation (01.12.2020)
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Journal Article
Heterozygous inactivation of plasma membrane Ca^sup 2+^-ATPase in mice increases glucose-induced insulin release and beta cell proliferation, mass and viability
Pachera, Nathalie, Papin, Julien, Zummo, Francesco P, Rahier, Jacques, Mast, Jan, Meyerovich, Kira, Cardozo, Alessandra K, Herchuelz, André
Published in Diabetologia (01.12.2015)
Published in Diabetologia (01.12.2015)
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Plasma Membrane Ca2+-ATPase Overexpression Depletes Both Mitochondrial and Endoplasmic Reticulum Ca2+ Stores and Triggers Apoptosis in Insulin-secreting BRIN-BD11 Cells
Jiang, Lin, Allagnat, Florent, Nguidjoe, Evrard, Kamagate, Adama, Pachera, Nathalie, Vanderwinden, Jean-Marie, Brini, Marisa, Carafoli, Ernesto, Eizirik, Décio L., Cardozo, Alessandra K., Herchuelz, André
Published in The Journal of biological chemistry (01.10.2010)
Published in The Journal of biological chemistry (01.10.2010)
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Journal Article
Na+/Ca2+ Exchanger a Druggable Target to Promote β-Cell Proliferation and Function
Papin, Julien, Zummo, Francesco Paolo, Pachera, Nathalie, Guay, Claudiane, Regazzi, Romano, Cardozo, Alessandra K, Herchuelz, André
Published in Journal of the Endocrine Society (01.07.2018)
Published in Journal of the Endocrine Society (01.07.2018)
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Journal Article
Na + /Ca 2+ Exchanger a Druggable Target to Promote β -Cell Proliferation and Function
Papin, Julien, Zummo, Francesco Paolo, Pachera, Nathalie, Guay, Claudiane, Regazzi, Romano, Cardozo, Alessandra K, Herchuelz, André
Published in Journal of the Endocrine Society (01.07.2018)
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Published in Journal of the Endocrine Society (01.07.2018)
Journal Article
Heterozygous Inactivation of the Na/Ca Exchanger Increases Glucose-Induced Insulin Release, β-Cell Proliferation, and Mass
NGUIDJOE, Evrard, SOKOLOW, Sophie, MAST, Jan, JOANNY, Geraldine, MONTANYA, Eduard, RAHIER, Jacques, CARDOZO, Alessandra K, EIZIRIK, Decio L, SCHURMANS, Stephane, HERCHUELZ, Andre, BIGABWA, Serge, PACHERA, Nathalie, D'AMICO, Eva, ALLAGNAT, Florent, VANDERWINDEN, Jean-Marie, SENER, Abdullah, MANTO, Mario, DEPRETER, Marianne
Published in Diabetes (New York, N.Y.) (01.08.2011)
Published in Diabetes (New York, N.Y.) (01.08.2011)
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Heterozygous inactivation of the Na/Ca exchanger increases glucose-induced insulin release, [beta]-cell proliferation, and mass
Nguidjoe, Evrard, Sokolow, Sophie, Bigabwa, Serge, Pachera, Nathalie, D'Amico, Eva, Allagnat, Florent, Vanderwinden, Jean- Marie, Sener, Abdullah, Manto, Mario, Depreter, Marianne, Mast, Jan, Joanny, Geraldine, Montanya, Eduard, Rahier, Jacques, Cardozo, Alessandra K, Eizirik, Decio L, Schurmans, Stephane, Herchuelz, Andre
Published in Diabetes (New York, N.Y.) (01.08.2011)
Published in Diabetes (New York, N.Y.) (01.08.2011)
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