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19 p, 8.2 MB Lysosomal and network alterations in human mucopolysaccharidosis type VII iPSC-derived neurons / Bayó-Puxan, Neus (Institut d'Investigació Biomèdica de Bellvitge) ; Terrasso, Ana Paula (Universidade Nova de Lisboa. Instituto de Tecnologia Química e Biológica António Xavier) ; Creyssels, Sophie (University of Montpellier) ; Simão, Daniel (Universidade Nova de Lisboa. Instituto de Tecnologia Química e Biológica António Xavier) ; Begon-Pescia, Christina (University of Montpellier) ; Lavigne, Marina (University of Montpellier) ; Salinas, Sara (University of Montpellier) ; Bernex, Florence (University of Montpellier) ; Bosch i Merino, Assumpció (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular) ; Kalatzis, Vasiliki (University of Montpellier) ; Levade, Thierry (University Paul Sabatier Toulouse-III. Laboratoire de Biochimie Métabolique) ; Cuervo, Ana Maria (Albert Einstein College of Medicine) ; Lory, Philippe (University of Montpellier) ; Consiglio, Antonella (University of Brescia. Department of Molecular and Translational Medicine) ; Brito, Catarina (NOVA University Lisbon. The Discoveries Centre for Regenerative and Precision Medicine) ; Kremer, Eric J. (University of Montpellier)
Mucopolysaccharidosis type VII (MPS VII) is a lysosomal storage disease caused by deficient β-glucuronidase (β-gluc) activity. Significantly reduced β-gluc activity leads to accumulation of glycosaminoglycans (GAGs) in many tissues, including the brain. [...]
2018 - 10.1038/s41598-018-34523-3
Scientific reports, Vol. 8 (November 2018) , art. 16644  

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