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Journal Article
Cancer Research, ISSN 0008-5472, 11/2002, Volume 62, Issue 22, pp. 6674 - 6681
Journal Article
Neurobiology of Disease, ISSN 0969-9961, 2011, Volume 43, Issue 1, pp. 228 - 238
Abstract Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare type of leukodystrophy, in the majority of cases caused by mutations in the... 
Neurology | Astrocyte | Leukodystrophy | Volume | Junctions | DYSTROPHIN-GLYCOPROTEIN COMPLEX | ALPHA-DYSTROBREVIN | ZONULA OCCLUDENS-1 ZO-1 | GLIAL-CELLS | BLOOD-BRAIN-BARRIER | NEUROSCIENCES | MILD CLINICAL-COURSE | ALEXANDER-DISEASE | GENETIC-HETEROGENEITY | SUBCORTICAL CYSTS | MEGALENCEPHALIC LEUKOENCEPHALOPATHY | Vacuoles - genetics | Membrane Proteins - genetics | Humans | Astrocytes - pathology | Cells, Cultured | Rats | Hereditary Central Nervous System Demyelinating Diseases - physiopathology | Rats, Sprague-Dawley | Vacuoles - pathology | Down-Regulation - genetics | Hereditary Central Nervous System Demyelinating Diseases - metabolism | Cysts - metabolism | Membrane Proteins - deficiency | Extracellular Fluid - metabolism | Animals | Membrane Proteins - physiology | Adolescent | Cysts - genetics | Mice | Astrocytes - metabolism | Cysts - physiopathology | Hereditary Central Nervous System Demyelinating Diseases - genetics | Diagnostic imaging | Muscle proteins | Intermediate filament proteins | Analysis | Brain | Cell culture | Animal models | Astrocytes | Myelin | Glial fibrillary acidic protein | Nervous system | Substantia alba | Leukoencephalopathy | Zonula occludens-1 protein | MLC1 protein | Cysts | Magnetic resonance imaging | Actin | Biopsy | Microtubules | Cell adhesion | Water content | Cytoskeleton | Mutation | Vacuoles | volume | leukodystrophy | junctions
Journal Article
Journal Article
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 09/2015, Volume 10, Issue 9, p. e0137277
Journal Article
Journal of the American Society of Nephrology, ISSN 1046-6673, 06/2018, Volume 29, Issue 6, pp. 1624 - 1635
Background Reabsorption of amino acids (AAs) across the renal proximal tubule is crucial for intracellular and whole organism AA homeostasis. Although the... 
LYSINURIC PROTEIN INTOLERANCE | SLC7A7 | GENE | MOUSE MODEL | TRANSPORTER BAT1 SLC6A19 | UROLOGY & NEPHROLOGY | MEMBRANE-PROTEIN | MUTATIONS | HARTNUP DISORDER | IDENTIFICATION | MICE LACKING | protein deposits | fibrosis | mitochondriopathy | tubulopathy | AGAT | Basic Research
Journal Article
Nature Communications, ISSN 2041-1723, 03/2014, Volume 5, Issue 1, pp. 3475 - 3475
Journal Article
Human Mutation, ISSN 1059-7794, 07/2017, Volume 38, Issue 7, pp. 764 - 777
Journal Article