Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Adrià Pla-Casillanis"'
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:
Alice Gilbert, Gina La Sala, Virginia Nunes, Martine Cohen-Salmon, Adrià Pla-Casillanis, Raúl Estévez, Daniela Marazziti, Albert Martínez, Xabier Elorza-Vidal, Francisco Ciruela, Aida Castellanos, Chiara Di Pietro, Uwe Schulte, Mercedes Armand-Ugón, Marta Alonso-Gardón, Xavier Gasull
Publikováno v:
Human molecular genetics
(2021). doi:10.1093/hmg/ddab155
info:cnr-pdr/source/autori:Marta Alonso-Gardón 1, Xabier Elorza-Vidal 1 2, Aida Castellanos 1 2, Gina La Sala 3, Mercedes Armand-Ugon 1, Alice Gilbert 4, Chiara Di Pietro 3, Adrià Pla-Casillanis 1, Francisco Ciruela 5, Xavier Gasull 6, Virginia Nunes 7, Albert Martínez 8, Uwe Schulte 9, Martine Cohen-Salmon 4, Daniela Marazziti 3, Raúl Estévez 1 2/titolo:Identification of the GlialCAM interactome: The G protein-coupled receptors GPRC5B and GPR37L1 modulate Megalencephalic leukoencephalopathy proteins./doi:10.1093%2Fhmg%2Fddab155/rivista:Human molecular genetics (Print)/anno:2021/pagina_da:/pagina_a:/intervallo_pagine:/volume
Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2021, 30 (17), pp.1649-1665. ⟨10.1093/hmg/ddab155⟩
Dipòsit Digital de la UB
Universidad de Barcelona
(2021). doi:10.1093/hmg/ddab155
info:cnr-pdr/source/autori:Marta Alonso-Gardón 1, Xabier Elorza-Vidal 1 2, Aida Castellanos 1 2, Gina La Sala 3, Mercedes Armand-Ugon 1, Alice Gilbert 4, Chiara Di Pietro 3, Adrià Pla-Casillanis 1, Francisco Ciruela 5, Xavier Gasull 6, Virginia Nunes 7, Albert Martínez 8, Uwe Schulte 9, Martine Cohen-Salmon 4, Daniela Marazziti 3, Raúl Estévez 1 2/titolo:Identification of the GlialCAM interactome: The G protein-coupled receptors GPRC5B and GPR37L1 modulate Megalencephalic leukoencephalopathy proteins./doi:10.1093%2Fhmg%2Fddab155/rivista:Human molecular genetics (Print)/anno:2021/pagina_da:/pagina_a:/intervallo_pagine:/volume
Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2021, 30 (17), pp.1649-1665. ⟨10.1093/hmg/ddab155⟩
Dipòsit Digital de la UB
Universidad de Barcelona
Megalencephalic Leukoencephalopathy with subcortical Cysts (MLC) is a type of vacuolating leukodystrophy, which is mainly caused by mutations in MLC1 or GLIALCAM. The two MLC-causing genes encode for membrane proteins of yet unknown function that hav
Autor:
Carolyn Engel-Pizcueta, Juan Fernández-Recio, Raúl Estévez, Xabier Elorza-Vidal, Héctor Gaitán-Peñas, Efren Xicoy-Espaulella, Adrià Pla-Casillanis, Marta Alonso-Gardón
Publikováno v:
RIUR. Repositorio Institucional de la Universidad de La Rioja
instname
Human Molecular Genetics
Digital.CSIC. Repositorio Institucional del CSIC
Dipòsit Digital de la UB
Universidad de Barcelona
UPCommons. Portal del coneixement obert de la UPC
Universitat Politècnica de Catalunya (UPC)
instname
Human Molecular Genetics
Digital.CSIC. Repositorio Institucional del CSIC
Dipòsit Digital de la UB
Universidad de Barcelona
UPCommons. Portal del coneixement obert de la UPC
Universitat Politècnica de Catalunya (UPC)
© The Author(s) 2020.
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a type of leukodystrophy characterized by white matter edema, and it is caused mainly by recessive mutations in MLC1 and GLIALCAM genes. These variants ar
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a type of leukodystrophy characterized by white matter edema, and it is caused mainly by recessive mutations in MLC1 and GLIALCAM genes. These variants ar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2dabdc18231869148b853c94f5a78d26
https://investigacion.unirioja.es/documentos/5ec9dd89299952559ddd187c
https://investigacion.unirioja.es/documentos/5ec9dd89299952559ddd187c