title: Alexander disease and megalencephalic leukoencephalopathy with subcortical cysts: leukodystrophies arising from astrocyte dysfunction.
authors.affiliation: Center for Genetic Medicine, Children's National Medical Center, Washington, District of Columbia 20010, USA. rgorospe@cnmcresearch.org
authors.forename: J Rafael
authors.initials: JR
authors.lastname: Gorospe
authors.forename: Jelena
authors.initials: J
authors.lastname: Maletkovic
mesh_terms: D038261:Alexander Disease / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*; D001253:Astrocytes / Q000473:pathology / Q000502:physiology*; D001921:Brain / Q000473:pathology / Q000503:physiopathology*; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005904:Glial Fibrillary Acidic Protein / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008565:Membrane Proteins / Q000235:genetics*; D008967:Molecular Biology / Q000379:methods; D017354:Point Mutation / Q000235:genetics
chemical_list: D005904:Glial Fibrillary Acidic Protein; C425069:MLC1 protein, human; D008565:Membrane Proteins