Megalencephalic leukoencephalopathy with subcortical cysts is a developmental disorder of the gliovascular unit

Megalencephalic leukoencephalopathy with subcortical cysts is a developmental disorder of the gliovascular unit

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 vacuolation that lead to ataxia, spasticity, and cognitive...

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Autores principales: 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
Formato: article
Lenguaje:EN
Publicado: eLife Sciences Publications Ltd 2021
Materias:
MLC
MLC1
gliovascular unit
astrocytes
development
Medicine
R
Science
Q
Biology (General)
QH301-705.5
Acceso en línea:https://doaj.org/article/8c131fd67c234cbf982e2d29b237469b
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https://doaj.org/article/8c131fd67c234cbf982e2d29b237469b

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