Genomes and Genes
Gene Symbol: Mlc1
Description: megalencephalic leukoencephalopathy with subcortical cysts 1 homolog (human)
Alias: AW048630, BB074274, Kiaa0027-hp, LVM, MLC, WKL1, mKIAA0027, membrane protein MLC1
- Expression patterns of MLC1 protein in the central and peripheral nervous systemsOscar Teijido
Department of Biochemistry and Molecular Biology, Faculty of Biology, University of Barcelona and Institute for Research in Biomedicine, Barcelona Science Park, Josep Samitier 1 5 Barcelona, E 08028, Spain
Neurobiol Dis 26:532-45. 2007Mutations in MLC1 cause megalencephalic leukoencephalopathy with subcortical cysts (MLC), a disorder characterized clinically by macrocephaly, deterioration of motor functions, epilepsy and mental decline...
- Disrupting MLC1 and GlialCAM and ClC-2 interactions in leukodystrophy entails glial chloride channel dysfunctionMaja B Hoegg-Beiler
1 Leibniz Institut für Molekulare Pharmakologie FMP, Department Physiology and Pathology of Ion Transport, D 13125 Berlin, Germany 2 Max Delbrück Centrum für Molekulare Medizin MDC, D 13125 Berlin, Germany 3
Nat Commun 5:3475. 2014Defects in the astrocytic membrane protein MLC1, the adhesion molecule GlialCAM or the chloride channel ClC-2 underlie human leukoencephalopathies...
- Megalencephalic leukoencephalopathy with subcortical cysts protein 1 regulates glial surface localization of GLIALCAM from fish to humansSònia Sirisi
Seccion de Fisiologia, Departamento de Ciencias Fisiologicas II, Laboratorio de Genética Molecular IDIBELL, L Hospitalet de Llobregat, Spain
Hum Mol Genet 23:5069-86. 2014..with subcortical cysts (MLC) is a leukodystrophy characterized by myelin vacuolization and caused by mutations in MLC1 or GLIALCAM. Patients with recessive mutations in either MLC1 or GLIALCAM show the same clinical phenotype...
- Mice with megalencephalic leukoencephalopathy with cysts: a developmental angleMohit Dubey
Department of Pediatrics Child Neurology, Neuroscience Campus Amsterdam, VU University Medical Center Department of Integrative Neurophysiology, Center for Neurogenomics and Cognitive Research, VU University
Ann Neurol 77:114-31. 2015..Loss of MLC1 function causes MLC. MLC1 is involved in ion-water homeostasis, but its exact role is unknown...
- Astrocyte-mediated infantile-onset leukoencephalopathy mouse modelShouta Sugio
Division of Neurobiology and Bioinformatics, National Institute for Physiological Sciences, Okazaki, 444 8787, Japan
Glia 65:150-168. 2017..Several mouse models of MLC had been generated by knocking out the Mlc1 gene; however, none of those models was reported to show myelin abnormalities prior to formation of the myelin ..
- Flexible Accelerated STOP Tetracycline Operator-knockin (FAST): a versatile and efficient new gene modulating systemKenji F Tanaka
Division of Neurobiology and Bioinformatics, National Institute for Physiological Sciences, Okazaki Aichi, Japan
Biol Psychiatry 67:770-3. 2010..We demonstrate the flexibility and broad applicability of the FAST system by targeting several genes encoding proteins implicated in neuropsychiatric disorders: Mlc1, neuroligin 3, the serotonin 1A receptor, and the serotonin 1B receptor.
- Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cystsP A J Leegwater
Department for Clinical Chemistry, Free University Medical Center, Amsterdam, The Netherlands
Hum Genet 110:279-83. 2002..Mutations in the MLC1 gene, encoding a putative membrane protein, have been recently identified as a cause for MLC...
- The genomic organization of the murine Mlc1 (Wkl1, KIAA0027) geneV Steinke
Department of Psychiatry and Psychotherapy, University of Wurzburg, Germany
J Neural Transm (Vienna) 110:333-43. 2003The human MLC1( WKL1, KIAA0027) gene encodes a putative transmembrane protein expressed exclusively in brain. Recessive mutations within this gene cause megalencephalic leukoencephalopathy with subcortical cysts (MLC, MIM 604004, 605908)...
- The brain-specific protein MLC1 implicated in megalencephalic leukoencephalopathy with subcortical cysts is expressed in glial cells in the murine brainAngelika Schmitt
Department of Psychiatry and Psychotherapy, Section of Molecular Psychobiology, University of Wurzburg, Wurzburg, Germany
Glia 44:283-95. 2003The human MLC1 gene (also known as KIAA0027 and WKL1) and its murine orthologue (Mlc1) encode a putative transmembrane protein expressed primarily in brain...
- Is the WKL1 gene associated with schizophrenia?M Kaganovich
Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel
Am J Med Genet B Neuropsychiatr Genet 125:31-7. 2004A missense mutation Leu309Met in the WKL1 (MLC1, KIAA0027) gene, mapped to 22q13.3, was reported to co-segregate with periodic catatonic schizophrenia (SCZ) in a single large German pedigree with seven affected individuals (Meyer et al...
- Localization and functional analyses of the MLC1 protein involved in megalencephalic leukoencephalopathy with subcortical cystsOscar Teijido
Department of Biochemistry and Molecular Biology, Josep Samitier 1 5 Barcelona E 08028, Spain
Hum Mol Genet 13:2581-94. 2004Mutations in the MLC1 gene are responsible for one form of the neurological disorder megalencephalic leukoencephalopathy with subcortical cysts (MLC). The disease is a type of vacuolating myelinopathy...
- Ozz-E3 ubiquitin ligase targets sarcomeric embryonic myosin heavy chain during muscle developmentYvan Campos
Department of Genetics and Tumor Cell Biology, St Jude Children s Research Hospital, Memphis, Tennessee, United States of America
PLoS ONE 5:e9866. 2010..Our findings identify Ozz-E3 as the ubiquitin ligase complex that interacts with and regulates myosin within its fully assembled cytoskeletal structure...
- Ttyh1, a Ca(2+)-binding protein localized to the endoplasmic reticulum, is required for early embryonic developmentTomohiro Kumada
Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan
Dev Dyn 239:2233-45. 2010..Our findings indicate that Ttyh1 plays an indispensable role during mitosis in early embryogenesis, possibly by maintaining Ca(2+) homeostasis in the ER...
- Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autismTania López-Hernández
Seccion de Fisiologia, Departamento de Ciencias Fisiologicas II, University of Barcelona, 08907 Barcelona, Spain
Am J Hum Genet 88:422-32. 2011..Recessive MLC1 mutations are observed in 75% of patients with MLC. Genetic-linkage studies failed to identify another gene...
- Identification of potential target genes for RFX4_v3, a transcription factor critical for brain developmentDonghui Zhang
Laboratory of Neurobiology, National Institute of Environmental Health Sciences, National Institutes of Health Research Triangle Park, North Carolina 27709, USA
J Neurochem 98:860-75. 2006..These data suggest that RFX4_v3 may act upstream of critical signaling pathways in the process of brain development...