Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Celine J. Rocca"'
Autor:
Celine J. Rocca, Joseph N. Rainaldi, Jay Sharma, Yanmeng Shi, Joseph H. Haquang, Jens Luebeck, Prashant Mali, Stephanie Cherqui
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 17, Iss , Pp 1026-1036 (2020)
Friedreich’s ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by expansion of GAA repeats in intron 1 of the frataxin (FXN) gene, leading to significant decreased expression of frataxin, a mitochondrial iron-binding protein
Externí odkaz:
https://doaj.org/article/363e1c35035d4f959e428be557dad5a2
Autor:
Jens Luebeck, Stephanie Cherqui, Joseph H. Haquang, Prashant Mali, Joseph N. Rainaldi, Jay Sharma, Celine J. Rocca, Yanmeng Shi
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 17, Iss, Pp 1026-1036 (2020)
Molecular Therapy. Methods & Clinical Development
Molecular Therapy. Methods & Clinical Development
Friedreich’s ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by expansion of GAA repeats in intron 1 of the frataxin (FXN) gene, leading to significant decreased expression of frataxin, a mitochondrial iron-binding protein
Autor:
Qisheng Xin, Stephanie Cherqui, William B. Kiosses, Cecilia Bucci, Gennaro Napolitano, Celine J. Rocca, Jennifer L. Johnson, Mahalakshmi Ramadass, Jinzhong Zhang, Jing He, Evripidis Gavathiotis, Sergio D. Catz, Ana Maria Cuervo
Publikováno v:
The Journal of biological chemistry, vol 292, iss 25
Zhang, J; Johnson, JL; He, J; Napolitano, G; Ramadass, M; Rocca, C; et al.(2017). Cystinosin, the small GTPase Rab11, and the Rab7 effector RILP regulate intracellular trafficking of the chaperone-mediated autophagy receptor LAMP2A. Journal of Biological Chemistry, 292(25), 10328-10346. doi: 10.1074/jbc.M116.764076. UC San Diego: Retrieved from: http://www.escholarship.org/uc/item/7xd8j6z1
Zhang, J; Johnson, JL; He, J; Napolitano, G; Ramadass, M; Rocca, C; et al.(2017). Cystinosin, the small GTPase Rab11, and the Rab7 effector RILP regulate intracellular trafficking of the chaperone-mediated autophagy receptor LAMP2A. Journal of Biological Chemistry, 292(25), 10328-10346. doi: 10.1074/jbc.M116.764076. UC San Diego: Retrieved from: http://www.escholarship.org/uc/item/7xd8j6z1
© 2017 by The American Society for Biochemistry and Molecular Biology, Inc. The lysosomal storage disease cystinosis, caused by cystinosin deficiency, is characterized by cell malfunction, tissue failure, and progressive renal injury despite cystine
Autor:
Celine J. Rocca, Stephanie Cherqui
Publikováno v:
Methods in Molecular Biology ISBN: 9781493990641
Methods Mol Biol
Methods Mol Biol
Genetic nephropathies represent a challenging class of disorders to be treated by gene therapy. This is primarily due to the filtering properties of the kidney itself, which does not allow the vehicle carrying the transgene of interest to remain long
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf96a4f07ba3d5405515b7091cdfc546
https://escholarship.org/uc/item/23x332mj
https://escholarship.org/uc/item/23x332mj
Autor:
Lucie Thomas, Stephanie Cherqui, Fiona Moore, Jinzhong Zhang, Nathalie Nevo, Tatiana Lobry, Roy Miller, Robert H. Mak, Sergio D. Catz, Celine J. Rocca, Marie-Claire Gubler, Ida Chiara Guerrera, Daniel Pouly, Anne Bailleux, Tristan Montier, Wai W. Cheung, Corinne Antignac
Publikováno v:
Kidney international. 96(2)
Inflammation is involved in the pathogenesis of many disorders. However, the underlying mechanisms are often unknown. Here, we test whether cystinosin, the protein involved in cystinosis, is a critical regulator of galectin-3, a member of the β-gala
Autor:
Jianbin Wang, Chv Gan, Cynthia C. Bartholomae, F. J. Molina-Estevez, Christine Kinnon, Richard Gabriel, HH Abdul-Razak, Michael C. Holmes, V. Prakash, Celine J. Rocca, Rafael J. Yáñez-Muñoz, Philip D. Gregory, J Pantoglou, JA Bueren, M. E. Alonso-Ferrero, Adam Roberts, C von Kalle, Guillermo Guenechea, Steven J. Howe, Marina I. Garin, Adrian J. Thrasher, Michael P. Blundell, Manfred Schmidt
Publikováno v:
Scientific Reports, Vol 8, Iss 1, Pp 1-13 (2018)
Scientific Reports
Scientific Reports
Genome editing is the introduction of directed modifications in the genome, a process boosted to therapeutic levels by designer nucleases. Building on the experience of ex vivo gene therapy for severe combined immunodeficiencies, it is likely that ge
Autor:
Stephanie Cherqui, Celine J. Rocca
Publikováno v:
Rocca, CJ; & Cherqui, S. (2018). Potential use of stem cells as a therapy for cystinosis.. Pediatric nephrology (Berlin, Germany). doi: 10.1007/s00467-018-3974-7. UC San Diego: Retrieved from: http://www.escholarship.org/uc/item/6jd3n716
Pediatric nephrology (Berlin, Germany), vol 34, iss 6
Pediatr Nephrol
Pediatric Nephrology
Pediatric Nephrology, 2019, 34 (6), pp.965-973. ⟨10.1007/s00467-018-3974-7⟩
Pediatric nephrology (Berlin, Germany), vol 34, iss 6
Pediatr Nephrol
Pediatric Nephrology
Pediatric Nephrology, 2019, 34 (6), pp.965-973. ⟨10.1007/s00467-018-3974-7⟩
Cystinosis is an autosomal recessive metabolic disease that belongs to the fa1mily of lysosomal storage disorders (LSDs). Initial symptoms of cystinosis correspond to the renal Fanconi syndrome. Patients then develop chronic kidney disease and multi-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::673ad142e8760a99248b0ddfe995266d
http://www.escholarship.org/uc/item/6jd3n716
http://www.escholarship.org/uc/item/6jd3n716
Autor:
Ida Chiara Guerrera, Tristan Montier, Nathalie Nevo, Celine J. Rocca, Fiona Moore, Stephanie Cherqui, Wilson W Cheung, Anne Bailleux, Marie-Claire Gubler, Tatiana Lobry, Robbert Mak, Roy Miller, Sergio D. Catz, Jinzhong Zhang, Corinne Antignac
Inflammation is implicated in the pathogenesis of many disorders. Here, we show that cystinosin, protein defective in the lysosomal storage disorder cystinosis, is a critical regulator of galectin-3 during inflammation. Cystinosis is a lysosomal stor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d4b61a3bae0b911c393e309f0d8268f
Autor:
Jordan Blondelle, Ilya Gertsman, Celine J. Rocca, Janell L. M. Smith, Joseph H. Haquang, Spencer Goodman, Charles J. Heyser, Jennifer N. Dulin, Stephanie Cherqui
Publikováno v:
Science translational medicine, vol 9, iss 413
Friedreich’s ataxia (FRDA) is an incurable autosomal recessive neurodegenerative disease caused by reduced expression of the mitochondrial protein frataxin due to an intronic GAA-repeat expansion in the FXN gene. We report the therapeutic efficacy
Autor:
Annette K. Larsen, Alexandre E. Escargueil, Daniele G. Soares, Celine J. Rocca, João Antonio Pêgas Henriques, Hana Bouzid
Publikováno v:
Cell Cycle. 14:2080-2090
Repair of DNA-targeted anticancer agents is an active area of investigation of both fundamental and clinical interest. However, most studies have focused on a small number of compounds limiting our understanding of both DNA repair and the DNA damage