Monocytes and macrophages as biomarkers for the diagnosis of megalencephalic leukoencephalopathy with subcortical cysts

S Petrini, G Minnone, M Coccetti, C Frank… - Molecular and Cellular …, 2013 - Elsevier
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare congenital
leukodystrophy characterized by macrocephaly, subcortical cysts and demyelination. The …

Megalencephalic leukoencephalopathy with subcortical cysts protein-1 (MLC1) counteracts astrocyte activation in response to inflammatory signals

MS Brignone, A Lanciotti, B Serafini, C Mallozzi… - Molecular …, 2019 - Springer
Megalencephalic leukoencephalopathy with subcortical cysts protein-1 (MLC1) is a
membrane protein expressed by perivascular astrocytes. MLC1 mutations cause MLC, an …

Pathophysiological role of MLC1, a protein involved in megalencephalic leukoencephalopathy with subcortical cysts

MS Brignone - 2013 - iris.uniroma1.it
Megalencephalic leukoencephalopathy with subcortical cysts (MLC), is a rare congenital
and incurable leukodystrophy characterized by macrocephaly, subcortical fluid cysts and …

Megalencephalic leukoencephalopathy: insights into pathophysiology and perspectives for therapy

A Bosch, R Estévez - Frontiers in cellular neuroscience, 2021 - frontiersin.org
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare genetic
disorder belonging to the group of vacuolating leukodystrophies. It is characterized by …

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

A Gilbert, X Elorza-Vidal, A Rancillac, A Chagnot… - Elife, 2021 - elifesciences.org
Absence of the astrocyte-specific membrane protein MLC1 is responsible for
megalencephalic leukoencephalopathy with subcortical cysts (MLC), a rare type of …

Effect of seizures on the severity of myelin vacuolization in a mouse model of megalencephalic leukoencephalopathy with subcortical cysts

E Brouwers, M Breur, MS Jorge, HD Mansvelder… - bioRxiv, 2024 - biorxiv.org
Objective Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a white
matter disease characterized by myelin vacuolization and swollen perivascular astrocyte …

Cerebellar astrocyte transduction as gene therapy for megalencephalic leukoencephalopathy

A Sánchez, B García-Lareu, M Puig, E Prat, J Ruberte… - …, 2020 - Springer
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare genetic
disorder belonging to the group of vacuolating leukodystrophies. It is characterized by …

Megalencephalic leukoencephalopathy with subcortical cysts: a personal biochemical retrospective

R Estévez Povedano, X Elorza Vidal… - … , vol. 61, num. 1, p. 50 …, 2018 - diposit.ub.edu
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare type of
leukodystrophy characterized by dysfunction of the role of glial cells in controlling brain fluid …

Comparison of zebrafish and mice knockouts for Megalencephalic Leukoencephalopathy proteins indicates that GlialCAM/MLC1 forms a functional unit

C Pérez-Rius, M Folgueira, X Elorza-Vidal… - Orphanet Journal of …, 2019 - Springer
Abstract Background Megalencephalic Leukoencephalopathy with subcortical Cysts (MLC)
is a rare type of leukodystrophy characterized by astrocyte and myelin vacuolization …

Astrocyte‐mediated infantile‐onset leukoencephalopathy mouse model

S Sugio, K Tohyama, S Oku, K Fujiyoshi, T Yoshimura… - Glia, 2017 - Wiley Online Library
Astrocytes have recently been shown to provide physiological support for various brain
functions, although little is known about their involvement in white matter integrity. Several …