Article
Megalencephalic leukoencephalopathy with subcortical cysts protein 1 functionally cooperates with the TRPV4 cation channel to activate the response of astrocytes to osmotic stress: dysregulation by pathological mutations.
Human molecular genetics - 15 May 2012
Lanciotti Angela, Brignone Maria S, Molinari Paola, Visentin Sergio, De Nuccio Chiara, Macchia Gianfranco, Aiello Chiara, Bertini Enrico, Aloisi Francesca, Petrucci Tamara C, Ambrosini Elena
Abstract excerpt
Megalencephalic leukoencephalopathy with subcortical cysts (MLC), a rare leukodystrophy characterized by macrocephaly, subcortical fluid cysts and myelin vacuolation, has been linked to mutations in the MLC1 gene. This gene encodes a membrane protein that is highly expressed in astrocytes. Based...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.