Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Raul Estevez"'
Autor:
Alice Gilbert, Xabier Elorza-Vidal, Armelle Rancillac, Audrey Chagnot, Mervé Yetim, Vincent Hingot, Thomas Deffieux, Anne-Cécile Boulay, Rodrigo Alvear-Perez, Salvatore Cisternino, Sabrina Martin, Sonia Taïb, Aontoinette Gelot, Virginie Mignon, Maryline Favier, Isabelle Brunet, Xavier Declèves, Mickael Tanter, Raul Estevez, Denis Vivien, Bruno Saubaméa, Martine Cohen-Salmon
Publikováno v:
eLife, Vol 10 (2021)
Absence of the astrocyte-specific membrane protein MLC1 is responsible for megalencephalic leukoencephalopathy with subcortical cysts (MLC), a rare type of leukodystrophy characterized by early-onset macrocephaly and progressive white matter vacuolat
Externí odkaz:
https://doaj.org/article/8c131fd67c234cbf982e2d29b237469b
Publikováno v:
Biophysical Journal. 121:507a
Autor:
Clara Mayayo-Vallverdú, Laura Ferigle, Marta Vecino-Pérez, Julián Lara, Virginia Nunes, Raúl Estévez
Publikováno v:
Brain Disorders, Vol 11, Iss , Pp 100079- (2023)
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare type of vacuolating leukodystrophy. Approximately 75% of MLC patients have variants in MLC1, while the rest in GLIALCAM, GPRC5B and AQP4. From the GLIALCAM patients, a classic
Externí odkaz:
https://doaj.org/article/ee0bb518887d403fa2a6e96bbe1c4b8d
Akademický článek
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Autor:
Haijin Xu, Sandra Isenmann, Tania López-Hernández, Raúl Estévez, Gergely L. Lukacs, Pirjo M. Apaja
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-17 (2021)
Abstract The significance of crosstalks among constituents of plasma membrane protein clusters/complexes in cellular proteostasis and protein quality control (PQC) remains incompletely understood. Examining the glial (enriched) cell adhesion molecule
Externí odkaz:
https://doaj.org/article/eca27c5cd8744f3faa3f91b5a2225771
Autor:
Carla Pérez-Rius, Mónica Folgueira, Xabier Elorza-Vidal, A. Alia, Maja B. Hoegg-Beiler, Muhamed N. H. Eeza, María Luz Díaz, Virginia Nunes, Alejandro Barrallo-Gimeno, Raúl Estévez
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-13 (2019)
Abstract Background Megalencephalic Leukoencephalopathy with subcortical Cysts (MLC) is a rare type of leukodystrophy characterized by astrocyte and myelin vacuolization, epilepsy and early-onset macrocephaly. MLC is caused by mutations in MLC1 or GL
Externí odkaz:
https://doaj.org/article/8acecb8eb6054a739839af32648f3f85
Autor:
Adrià Pla-Casillanis, Laura Ferigle, Marta Alonso-Gardón, Efren Xicoy-Espaulella, Ekaitz Errasti-Murugarren, Daniela Marazziti, Raúl Estévez
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 10, p 5528 (2022)
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare type of vacuolating leukodystrophy (white matter disorder), which is mainly caused by defects in MLC1 or glial cell adhesion molecule (GlialCAM) proteins. In addition, autoant
Externí odkaz:
https://doaj.org/article/cadd853908884078b4073fa294b2bf22
Autor:
Xabier Elorza-Vidal, Sònia Sirisi, Héctor Gaitán-Peñas, Carla Pérez-Rius, Marta Alonso-Gardón, Mercedes Armand-Ugón, Angela Lanciotti, Maria Stefania Brignone, Esther Prat, Virginia Nunes, Elena Ambrosini, Xavier Gasull, Raúl Estévez
Publikováno v:
Neurobiology of Disease, Vol 119, Iss , Pp 88-99 (2018)
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare type of leukodystrophy caused by mutations in either MLC1 or GLIALCAM genes. Previous work indicated that chloride currents mediated by the volume-regulated anion channel (VRA
Externí odkaz:
https://doaj.org/article/07016d228ca04064967df3945f315c92
Autor:
Assumpció Bosch, Raúl Estévez
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 14 (2021)
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare genetic disorder belonging to the group of vacuolating leukodystrophies. It is characterized by megalencephaly, loss of motor functions, epilepsy, and mild mental decline. In
Externí odkaz:
https://doaj.org/article/f5c1dc1ec79347f3a410600cb424d365