未登录Altered tubulin detyrosination due to SVBP malfunction induces cytokinesis failure and senescence, underlying a complex hereditary spastic paraplegia
Launay, Nathalie; Espinosa-Alcantud, Maria; Verdura, Edgard; Fernandez-Eulate, Gorka; Ondaro, Jon; Iruzubieta, Pablo; Marsal, Maria; Schluter, Agatha; Ruiz, Montserrat; Fourcade, Stephane; Rodriguez-Palmero, Agusti; Zulaica, Miren; Sistiaga, Andone; Labayru, Garazi; Loza-Alvarez, Pablo; Vaquero, Alejandro; de Munain, Adolfo Lopez; Pujol, Aurora .png)
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收藏Imbalanced mitochondrial dynamics contributes to the pathogenesis of X-linked adrenoleukodystrophy线粒体动力学失衡有助于X连锁肾上腺脑白质营养不良的发病机制Launay, Nathalie; Lopez-Erauskin, Jone; Bianchi, Patrizia; Guha, Sanjib; Parameswaran, Janani; Coppa, Andrea; Torreni, Lorenzo; Schluter, Agatha; Fourcade, Stephane; Paredes-Fuentes, Abraham J.; Artuch, Rafael; Casasnovas, Carlos; Ruiz, Montserrat; Pujol, Aurora 分享 收藏 RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegiaLaunay, Nathalie; Ruiz, Montserrat; Planas-Serra, Laura; Verdura, Edgard; Rodriguez-Palmero, Agusti; Schluter, Agatha; Goicoechea, Leire; Guilera, Cristina; Casas, Josefina; Campelo, Felix; Jouanguy, Emmanuelle; Casanova, Jean-Laurent; Boespflug-Tanguy, Odile; Cancela, Maria Vazquez; Gutierrez-Solana, Luis Gonzalez; Casasnovas, Carlos; Area-Gomez, Estela; Pujol, Aurora 分享 收藏 Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrityPlanas-Serra, Laura; Launay, Nathalie; Goicoechea, Leire; Heron, Benedicte; Jou, Cristina; Julia-Palacios, Natalia; Ruiz, Montserrat; Fourcade, Stephane; Casasnovas, Carlos; De La Torre, Carolina; Gelot, Antoinette; Marsal, Maria; Loza-Alvarez, Pablo; Garcia-Cazorla, Angels; Fatemi, Ali; Ferrer, Isidre; Portero-Otin, Manel; Area-Gomez, Estela; Pujol, Aurora 分享 收藏 Multisystem inflammatory syndrome in children and SARS-CoV-2 variants: a two-year ambispective multicentric cohort study in Catalonia, Spain儿童多系统炎症综合征和SARS-CoV-2变异: 西班牙加泰罗尼亚一项为期两年的ambispective多中心队列研究Pino, Rosa; Antonanzas, Jesus M.; Paredes-Carmona, Fernando; Perramon, Aida; Riviere, Jacques G.; Coma, Maria; Martinez-Mejias, Abel; Ripoll, Francesc; Lopez, Nuria; Conti, Romina; Sala-Castellvi, Pere; Ruiz, Montserrat; Brio, Sonia; Garcia-Lorenzo, Marc; Esteller, Maria; Carreras-Abad, Clara; Herrero-Hernando, Carlos; Schneider, Stephan Otto; Gatell, Anna; Aguilar, Isabel; Cantero, Javier; Ruiz, Gloria; Fenollosa, Teresa; Lobato, Zulema; Villalobos, Pilar; Mora, Emiliano; Anton, Jordi; Visa-Rene, Nuria; Soler-Palacin, Pere; Calavia, Olga; Esquirol-Herrero, Cristina; Guarch-Ibanez, Borja; Garcia-Garcia, Juan-Jose; Coma, Ermengol; Fina, Francesc; Prats, Clara; Soriano-Arandes, Antoni 分享 收藏 Loss of seryl-tRNA synthetase (SARS1) causes complex spastic paraplegia and cellular senescenceVerdura, Edgard; Senger, Bruno; Raspall-Chaure, Miquel; Schluter, Agatha; Launay, Nathalie; Ruiz, Montserrat; Casasnovas, Carlos; Rodriguez-Palmero, Agusti; Macaya, Alfons; Dominique Becker, Hubert; Pujol, Aurora 分享 收藏 Diabetic Neuropathy Is Independently Associated With Worse Graft Outcomes and Incident Cardiovascular Disease After Pancreas Transplantation: A Retrospective Cohort Study in Type 1 DiabetesBoswell, Laura; Ventura-Aguiar, Pedro; Alejaldre, Aida; Navarro-Otano, Judith; Cofan, Frederic; Seres-Noriega, Tonet; Pane, Adriana; Montagud-Marrahi, Enrique; Molina-Andujar, Alicia; Ruiz, Montserrat; Cucchiari, David; Musquera, Mireia; Ferrer-Fabrega, Joana; Diekmann, Fritz; Esmatjes, Enric; Amor, Antonio J. 分享 收藏 Epigenetic profiling linked to multisystem inflammatory syndrome in children (MIS-C): A multicenter, retrospective study与儿童多系统炎症综合征相关的表观遗传学分析 (mis-c): 一项多中心回顾性研究Davalos, Veronica; Garcia-Prieto, Carlos A.; Ferrer, Gerardo; Aguilera-Albesa, Sergio; Valencia-Ramos, Juan; Rodriguez-Palmero, Agusti; Ruiz, Montserrat; Planas-Serra, Laura; Jordan, Iolanda; Alegria, Iosune; Flores-Perez, Patricia; Cantarin, Veronica; Fumado, Victoria; Viadero, Maria Teresa; Rodrigo, Carlos; Mendez-Hernandez, Maria; Lopez-Granados, Eduardo; Colobran, Roger; Riviere, Jacques G.; Soler-Palacin, Pere; Pujol, Aurora; Esteller, Manel 分享 收藏 Activating cannabinoid receptor 2 preserves axonal health through GSK-3β/NRF2 axis in adrenoleukodystrophyParameswaran, Janani; Goicoechea, Leire; Planas-Serra, Laura; Pastor, Antoni; Ruiz, Montserrat; Calingasan, Noel Y.; Guilera, Cristina; Aso, Ester; Boada, Jordi; Pamplona, Reinald; Portero-Otin, Manuel; de la Torre, Rafael; Ferrer, Isidre; Casasnovas, Carlos; Pujol, Aurora; Fourcade, Stephane 分享 收藏 Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven PrioritizationSchluter, Agatha; Rodriguez-Palmero, Agusti; Verdura, Edgard; Velez-Santamaria, Valentina; Ruiz, Montserrat; Fourcade, Stephane; Planas-Serra, Laura; Jose Martinez, Juan; Guilera, Cristina; Giros, Marisa; Artuch, Rafael; Yoldi, Maria Eugenia; O'Callaghan, Mar; Garcia-Cazorla, Angels; Armstrong, Judith; Marti, Itxaso; Mondragon Rezola, Elisabet; Redin, Claire; Louis Mandel, Jean; Conejo, David; Sierra-Corcoles, Concepcion; Beltran, Sergi; Gut, Marta; Vazquez, Elida; Del Toro, Mireia; Troncoso, Monica; Perez-Jurado, Luis A.; Gutierrez-Solana, Luis G.; Lopez de Munain, Adolfo; Casasnovas, Carlos; Aguilera-Albesa, Sergio; Macaya, Alfons; Pujol, Aurora 分享 收藏 Weight gain following pancreas transplantation in type 1 diabetes is associated with a worse glycemic profile: A retrospective cohort studyAmor, Antonio J.; Casas, Aida; Pane, Adriana; Ruiz, Sabina; Montagud-Marrahi, Enrique; Molina-Andujar, Alicia; Ruiz, Montserrat; Mayordomo, Rosa; Musquera, Mireia; Ferrer-Fabrega, Joana; Fondevila, Constantino; Diekmann, Fritz; Ventura-Aguiar, Pedro; Esmatjes, Enric 分享 收藏 Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy双等位基因PI4KA变体引起一种新的神经发育综合征，伴有低髓性脑白质营养不良Verdura, Edgard; Rodriguez-Palmero, Agusti; Velez-Santamaria, Valentina; Planas-Serra, Laura; de la Calle, Irene; Raspall-Chaure, Miquel; Roubertie, Agathe; Benkirane, Mehdi; Saettini, Francesco; Pavinato, Lisa; Mandrile, Giorgia; O'Leary, Melanie; O'Heir, Emily; Barredo, Estibaliz; Chacon, Almudena; Michaud, Vincent; Goizet, Cyril; Ruiz, Montserrat; Schluter, Agatha; Rouvet, Isabelle; Sala-Coromina, Julia; Fossati, Chiara; Iascone, Maria; Canonico, Francesco; Marce-Grau, Anna; de Souza, Precilla; Adams, David R.; Casasnovas, Carlos; Rehm, Heidi L.; Mefford, Heather C.; Gonzalez Gutierrez-Solana, Luis; Brusco, Alfredo; Koenig, Michel; Macaya, Alfons; Pujol, Aurora 分享 收藏 Modulation of mitochondrial and inflammatory homeostasis through RIP140 is neuroprotective in an adrenoleukodystrophy mouse modelRanea-Robles, Pablo; Galino, Jorge; Espinosa, Lluis; Schluter, Agatha; Ruiz, Montserrat; Calingasan, Noel Ylagan; Villarroya, Francesc; Naudi, Alba; Pamplona, Reinald; Ferrer, Isidre; Beal, M. Flint; Portero-Otin, Manuel; Fourcade, Stephane; Pujol, Aurora 分享 收藏 Epigenome-wide association study of COVID-19 severity with respiratory failure新型冠状病毒肺炎严重程度与呼吸衰竭的表观基因组关联研究Castro de Moura, Manuel; Davalos, Veronica; Planas-Serra, Laura; Alvarez-Errico, Damiana; Arribas, Carles; Ruiz, Montserrat; Aguilera-Albesa, Sergio; Troya, Jesus; Valencia-Ramos, Juan; Velez-Santamaria, Valentina; Rodriguez-Palmero, Agusti; Villar-Garcia, Judit; Horcajada, Juan P.; Albu, Sergiu; Casasnovas, Carlos; Rull, Anna; Reverte, Laia; Dietl, Beatriz; Dalmau, David; Arranz, Maria J.; Llucia-Carol, Laia; Planas, Anna M.; Perez-Tur, Jordi; Fernandez-Cadenas, Israel; Villares, Paula; Tenorio, Jair; Colobran, Roger; Martin-Nalda, Andrea; Soler-Palacin, Pere; Vidal, Francesc; Pujol, Aurora; Esteller, Manel 分享 收藏 Household Severe Acute Respiratory Syndrome Coronavirus 2 Transmission and Children: A Network Prospective Study家庭新型冠状病毒传播与儿童: 一项网络前瞻性研究Soriano-Arandes, Antoni; Gatell, Anna; Serrano, Pepe; Biosca, Mireia; Campillo, Ferran; Capdevila, Ramon; Fabrega, Anna; Lobato, Zulema; Lopez, Nuria; Moreno, Ana Ma; Poblet, Miriam; Teresa Riera-Bosch, Maria; Rius, Neus; Ruiz, Montserrat; Sanchez, Almudena; Valldeperez, Cinta; Vila, Monica; Pineda, Valenti; Lazcano, Uxue; Diaz, Yesika; Reyes-Uruena, Juliana; Soler-Palacin, Pere 分享 收藏 A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophyRodriguez-Palmero, Agusti; Schluter, Agatha; Verdura, Edgard; Ruiz, Montserrat; Jose Martinez, Juan; Gourlaouen, Isabelle; Ka, Chandran; Lobato, Ricardo; Casasnovas, Carlos; Le Gac, Gerald; Fourcade, Stephane; Pujol, Aurora 分享 收藏 High-dose biotin restores redox balance, energy and lipid homeostasis, and axonal health in a model of adrenoleukodystrophyFourcade, Stephane; Goicoechea, Leire; Parameswaran, Janani; Schluter, Agatha; Launay, Nathalie; Ruiz, Montserrat; Seyer, Alexandre; Colsch, Benoit; Calingasan, Noel Ylagan; Ferrer, Isidre; Beal, M. Flint; Sedel, Frederic; Pujol, Aurora 分享 收藏 The peroxisomal fatty acid transporter ABCD1/PMP-4 is required in the C. elegans hypodermis for axonal maintenance: A worm model for adrenoleukodystrophy过氧化物酶体脂肪酸转运蛋白ABCD1/PMP-4在C中是必需的。秀丽隐杆线虫的皮下组织用于轴突维持: 肾上腺脑白质营养不良的蠕虫模型Coppa, Andrea; Guha, Sanjib; Fourcade, Stephane; Parameswaran, Janani; Ruiz, Montserrat; Moser, Ann B.; Schluter, Agatha; Murphy, Michael P.; Miguel Lizcano, Jose; Miranda-Vizuete, Antonio; Dalfo, Esther; Pujol, Aurora 分享 收藏 A deep intronic splice variant advises reexamination of presumably dominant SPG7 CasesVerdura, Edgard; Schluter, Agatha; Fernandez-Eulate, Gorka; Ramos-Martin, Raquel; Zulaica, Miren; Planas-Serra, Laura; Ruizt, Montserrat; Fourcade, Stephane; Casasnovas, Carlos; Lopez de Munain, Adolfo; Pujol, Aurora 分享 收藏 
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