iPSC‐based modeling of THD recapitulates disease phenotypes and reveals neuronal malformation

Autor: Alba Tristán‐Noguero, Irene Fernández‐Carasa, Carles Calatayud, Cristina Bermejo‐Casadesús, Meritxell Pons‐Espinal, Arianna Colini Baldeschi, Leticia Campa, Francesc Artigas, Analia Bortolozzi, Rosario Domingo‐Jiménez, Salvador Ibáñez, Mercè Pineda, Rafael Artuch, Ángel Raya, Àngels García‐Cazorla, Antonella Consiglio

Publikováno v: EMBO Molecular Medicine, Vol 15, Iss 3, Pp 1-15 (2023)

Abstract Tyrosine hydroxylase deficiency (THD) is a rare genetic disorder leading to dopaminergic depletion and early‐onset Parkinsonism. Affected children present with either a severe form that does not respond to L‐Dopa treatment (THD‐B) or a

Externí odkaz: https://doaj.org/article/e22ef144c32047569cfc1dd967018c9c

Implantation of CPT1AM-expressing adipocytes reduces obesity and glucose intolerance in mice

Autor: M Carmen Soler-Vázquez, María del Mar Romero, Marijana Todorcevic, Katia Delgado, Carles Calatayud, Aleyda Benitez -Amaro, Maria Teresa La Chica Lhoëst, Paula Mera, Sebastián Zagmutt, Marianela Bastías-Pérez, Kevin Ibeas, Núria Casals, Joan Carles Escolà-Gil, Vicenta Llorente-Cortés, Antonella Consiglio, Dolors Serra, Laura Herrero

Obesity and its associated metabolic comorbidities are a rising global health and social issue, with novel therapeutic approaches urgently needed. Adipose tissue plays a key role in the regulation of energy balance and adipose tissue-derived mesenchy

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3565be543d08071724089986bbd75f2
http://hdl.handle.net/20.500.12328/3685

A reference human induced pluripotent stem cell line for collaborative studies

Autor: Pantazis, Caroline B, Yang, Andrian, Lara, Erika, McDonough, Justin A, Blauwendraat, Cornelis, Peng, Lirong, Oguro, Hideyuki, Kanaujiya, Jitendra, Zou, Jizhong, Sebesta, David, Pratt, Gretchen, Cross, Erin, Blockwick, Jeffrey, Buxton, Philip, Kinner-Bibeau, Lauren, Medura, Constance, Tompkins, Christopher, Hughes, Stephen, Santiana, Marianita, Faghri, Faraz, Nalls, Mike A, Vitale, Daniel, Ballard, Shannon, Qi, Yue A, Ramos, Daniel M, Anderson, Kailyn M, Stadler, Julia, Narayan, Priyanka, Papademetriou, Jason, Reilly, Luke, Nelson, Matthew P, Aggarwal, Sanya, Rosen, Leah U, Kirwan, Peter, Pisupati, Venkat, Coon, Steven L, Scholz, Sonja W, Priebe, Theresa, Ottl, Miriam, Dong, Jian, Meijer, Marieke, Janssen, Lara JM, Lourenco, Vanessa S, van der Kant, Rik, Crusius, Dennis, Paquet, Dominik, Raulin, Ana-Caroline, Bu, Guojun, Held, Aaron, Wainger, Brian J, Gabriele, Rebecca MC, Casey, Jackie M, Wray, Selina, Abu-Bonsrah, Dad, Parish, Clare L, Beccari, Melinda S, Cleveland, Don W, Li, Emmy, Rose, Indigo VL, Kampmann, Martin, Aristoy, Carles Calatayud, Verstreken, Patrik, Heinrich, Laurin, Chen, Max Y, Schule, Birgitt, Dou, Dan, Holzbaur, Erika LF, Zanellati, Maria Clara, Basundra, Richa, Deshmukh, Mohanish, Cohen, Sarah, Khanna, Richa, Raman, Malavika, Nevin, Zachary S, Matia, Madeline, Van Lent, Jonas, Timmerman, Vincent, Conklin, Bruce R, Chase, Katherine Johnson, Zhang, Ke, Funes, Salome, Bosco, Daryl A, Erlebach, Lena, Welzer, Marc, Kronenberg-Versteeg, Deborah, Lyu, Guochang, Arenas, Ernest, Coccia, Elena, Sarrafha, Lily, Ahfeldt, Tim, Marioni, John C, Skarnes, William C, Cookson, Mark R, Ward, Michael E, Merkle, Florian T

Human induced pluripotent stem cell (iPSC) lines are a powerful tool for studying development and disease, but the considerable phenotypic variation between lines makes it challenging to replicate key findings and integrate data across research group

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______1131::558c404ec1b063eb6992b0688aa07a2d
https://lirias.kuleuven.be/handle/20.500.12942/715880

EndophilinA-dependent coupling between activity-induced calcium influx and synaptic autophagy is disrupted by a Parkinson-risk mutation

Autor: Adekunle T. Bademosi, Marianna Decet, Sabine Kuenen, Carles Calatayud, Jef Swerts, Sandra F. Gallego, Nils Schoovaerts, Spyridoula Karamanou, Nikolaos Louros, Ella Martin, Jean-Baptiste Sibarita, Katlijn Vints, Natalia V. Gounko, Frédéric A. Meunier, Anastassios Economou, Wim Versées, Frederic Rousseau, Joost Schymkowitz, Sandra-F. Soukup, Patrik Verstreken

Publikováno v: Neuron. 111:1402-1422.e13

Neuronal activity causes use-dependent decline in protein function. However, it is unclear how this is coupled to local quality control mechanisms. We show in Drosophila that the endocytic protein Endophilin-A (EndoA) connects activity-induced calciu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0810cbd9c9d27c4f1798bb2adf77be17
https://doi.org/10.1016/j.neuron.2023.02.001

EndophilinA-dependent coupling between activity-dependent calcium influx and synaptic autophagy is disrupted by a Parkinson-risk mutation

Autor: Adekunle T. Bademosi, Marianna Decet, Sabine Kuenen, Carles Calatayud, Jef Swerts, Sandra F Gallego, Nils Schoovaerts, Nikolaos Louros, Ella Martin, Spyridoula Karamanou, Jean-Baptiste Sibarita, Katlijn Vints, Natalia V. Gounko, Frédéric A. Meunier, Anastassios Economou, Wim Versées, Frederic Rousseau, Joost Schymkowitz, Sandra-F. Soukup, Patrik Verstreken

Neuronal activity and neurotransmitter release cause use-dependent decline in protein function. However, it is unclear how this is coupled to local protein turnover and quality control mechanisms. Here we show that the endocytic protein Endophilin-A

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4cfc352cf7c293cb641e007cb4ca4881
https://doi.org/10.1101/2022.04.29.490010