Mlc1

Summary

Gene Symbol: Mlc1
Description: megalencephalic leukoencephalopathy with subcortical cysts 1 homolog (human)
Alias: AW048630, BB074274, Kiaa0027-hp, LVM, MLC, WKL1, mKIAA0027, membrane protein MLC1
Species: mouse

Top Publications

  1. ncbi Expression patterns of MLC1 protein in the central and peripheral nervous systems
    Oscar 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. 2007
  2. doi Disrupting MLC1 and GlialCAM and ClC-2 interactions in leukodystrophy entails glial chloride channel dysfunction
    Maja 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. 2014
  3. doi Megalencephalic leukoencephalopathy with subcortical cysts protein 1 regulates glial surface localization of GLIALCAM from fish to humans
    Sònia 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
  4. doi Mice with megalencephalic leukoencephalopathy with cysts: a developmental angle
    Mohit 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
  5. doi Astrocyte-mediated infantile-onset leukoencephalopathy mouse model
    Shouta Sugio
    Division of Neurobiology and Bioinformatics, National Institute for Physiological Sciences, Okazaki, 444 8787, Japan
    Glia 65:150-168. 2017
  6. pmc Flexible Accelerated STOP Tetracycline Operator-knockin (FAST): a versatile and efficient new gene modulating system
    Kenji F Tanaka
    Division of Neurobiology and Bioinformatics, National Institute for Physiological Sciences, Okazaki Aichi, Japan
    Biol Psychiatry 67:770-3. 2010
  7. ncbi Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts
    P A J Leegwater
    Department for Clinical Chemistry, Free University Medical Center, Amsterdam, The Netherlands
    Hum Genet 110:279-83. 2002
  8. ncbi The genomic organization of the murine Mlc1 (Wkl1, KIAA0027) gene
    V Steinke
    Department of Psychiatry and Psychotherapy, University of Wurzburg, Germany
    J Neural Transm (Vienna) 110:333-43. 2003
  9. ncbi The brain-specific protein MLC1 implicated in megalencephalic leukoencephalopathy with subcortical cysts is expressed in glial cells in the murine brain
    Angelika Schmitt
    Department of Psychiatry and Psychotherapy, Section of Molecular Psychobiology, University of Wurzburg, Wurzburg, Germany
    Glia 44:283-95. 2003
  10. ncbi 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. 2004

Scientific Experts

  • A Schmitt
  • Raúl Estévez
  • Sònia Sirisi
  • ALBERT MARTINEZ
  • Shouta Sugio
  • Virginia Nunes
  • Kenji F Tanaka
  • Tania López-Hernández
  • Oscar Teijido
  • Mohit Dubey
  • Maja B Hoegg-Beiler
  • Kazuhiro Ikenaka
  • Gert C Scheper
  • Marjo S van der Knaap
  • Margreet C Ridder
  • Emiel Polder
  • Xavier Capdevila-Nortes
  • Tomohiro Kumada
  • Yvan Campos
  • Donghui Zhang
  • Eduardo Soriano
  • Manuel Palacin
  • Antonio Zorzano
  • M Kaganovich
  • Shinichiro Oku
  • Ryutaro Yano
  • Koujiro Tohyama
  • Masahiko Watanabe
  • Takeshi Yoshimura
  • Takahiro Fukuda
  • Masaki Fukata
  • Masaya Nakamura
  • Kanehiro Fujiyoshi
  • Hideyuki Okano
  • Keigo Hikishima
  • V Steinke
  • Romy Aardse
  • Maarten Kamermans
  • Huibert D Mansvelder
  • Marianna Bugiani
  • Nienke L Postma
  • Eelke Brouwers
  • Marien P Dekker
  • Jan R T van Weering
  • Johannes C Baayen
  • Vivi M Heine
  • Johannes C Lodder
  • Jan Klooster
  • Truus E M Abbink
  • Ilja Boor
  • Christiaan P J de Kock
  • J Gerbren Jacobs
  • P A J Leegwater
  • Muriel Auberson
  • Stephan Neuhauss
  • Laura Minieri
  • Alejandro Barrallo-Gimeno
  • Ian J Orozco
  • Héctor Gaitán-Peñas
  • Miguel López de Heredia
  • A Alia
  • Jingjing Zang
  • Clara Vilches
  • Isidre Ferrer
  • Svea Hohensee
  • Carla Pérez-Rius
  • Kathrin Gödde
  • Stefano Ferroni
  • Thomas J Jentsch
  • Upasana Roy
  • Pedro de la Villa
  • Mónica Folgueira
  • Uwe Schulte
  • Bernd Fakler
  • Marisol Montolio
  • Anna Duarri
  • Minoru Shibata
  • Naja Vergani
  • Tatsutoshi Nakahata
  • ALESSANDRA D'AZZO
  • Jesse W Richardson-Jones
  • Takaya Abe
  • E David Leonardo
  • Ayumi Kitano
  • Simon Moshiach
  • Rene Hen
  • A John Harris
  • Susanne E Ahmari
  • Elaine C Budreck
  • Toshio Heike

Detail Information

Publications15

  1. ncbi Expression patterns of MLC1 protein in the central and peripheral nervous systems
    Oscar 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. 2007
    Mutations in MLC1 cause megalencephalic leukoencephalopathy with subcortical cysts (MLC), a disorder characterized clinically by macrocephaly, deterioration of motor functions, epilepsy and mental decline...
  2. doi Disrupting MLC1 and GlialCAM and ClC-2 interactions in leukodystrophy entails glial chloride channel dysfunction
    Maja 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. 2014
    Defects in the astrocytic membrane protein MLC1, the adhesion molecule GlialCAM or the chloride channel ClC-2 underlie human leukoencephalopathies...
  3. doi Megalencephalic leukoencephalopathy with subcortical cysts protein 1 regulates glial surface localization of GLIALCAM from fish to humans
    Sònia 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...
  4. doi Mice with megalencephalic leukoencephalopathy with cysts: a developmental angle
    Mohit 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...
  5. doi Astrocyte-mediated infantile-onset leukoencephalopathy mouse model
    Shouta 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 ..
  6. pmc Flexible Accelerated STOP Tetracycline Operator-knockin (FAST): a versatile and efficient new gene modulating system
    Kenji 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.
  7. ncbi Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts
    P 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...
  8. ncbi The genomic organization of the murine Mlc1 (Wkl1, KIAA0027) gene
    V Steinke
    Department of Psychiatry and Psychotherapy, University of Wurzburg, Germany
    J Neural Transm (Vienna) 110:333-43. 2003
    The 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)...
  9. ncbi The brain-specific protein MLC1 implicated in megalencephalic leukoencephalopathy with subcortical cysts is expressed in glial cells in the murine brain
    Angelika Schmitt
    Department of Psychiatry and Psychotherapy, Section of Molecular Psychobiology, University of Wurzburg, Wurzburg, Germany
    Glia 44:283-95. 2003
    The human MLC1 gene (also known as KIAA0027 and WKL1) and its murine orthologue (Mlc1) encode a putative transmembrane protein expressed primarily in brain...
  10. ncbi 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. 2004
    A 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...
  11. ncbi Localization and functional analyses of the MLC1 protein involved in megalencephalic leukoencephalopathy with subcortical cysts
    Oscar Teijido
    Department of Biochemistry and Molecular Biology, Josep Samitier 1 5 Barcelona E 08028, Spain
    Hum Mol Genet 13:2581-94. 2004
    Mutations 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...
  12. pmc Ozz-E3 ubiquitin ligase targets sarcomeric embryonic myosin heavy chain during muscle development
    Yvan 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...
  13. doi Ttyh1, a Ca(2+)-binding protein localized to the endoplasmic reticulum, is required for early embryonic development
    Tomohiro 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...
  14. pmc Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism
    Tania 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...
  15. ncbi Identification of potential target genes for RFX4_v3, a transcription factor critical for brain development
    Donghui 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...