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    Mlc1 megalencephalic leukoencephalopathy with subcortical cysts 1 homolog (human) [ Mus musculus (house mouse) ]

    Gene ID: 170790, updated on 27-Nov-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Megalencephalic leukoencephalopathy with subcortical cysts protein-1: A new calcium-sensitive protein functionally activated by endoplasmic reticulum calcium release and calmodulin binding in astrocytes.

    Megalencephalic leukoencephalopathy with subcortical cysts protein-1: A new calcium-sensitive protein functionally activated by endoplasmic reticulum calcium release and calmodulin binding in astrocytes.
    Brignone MS, Lanciotti A, Molinari P, Mallozzi C, De Nuccio C, Caprini ES, Petrucci TC, Visentin S, Ambrosini E.

    06/26/2024
    A novel role for MLC1 in regulating astrocyte-synapse interactions.

    A novel role for MLC1 in regulating astrocyte-synapse interactions.
    Kater MSJ, Baumgart KF, Badia-Soteras A, Heistek TS, Carney KE, Timmerman AJ, van Weering JRT, Smit AB, van der Knaap MS, Mansvelder HD, Verheijen MHG, Min R.

    08/25/2023
    Mlc1-Expressing Perivascular Astrocytes Promote Blood-Brain Barrier Integrity.

    Mlc1-Expressing Perivascular Astrocytes Promote Blood-Brain Barrier Integrity.
    Morales JE, De A, Miller AA, Chen Z, McCarty JH., Free PMC Article

    07/23/2022
    The Mlc1 Promoter Directs Muller Cell-specific Gene Expression in the Retina.

    The Mlc1 Promoter Directs Müller Cell-specific Gene Expression in the Retina.
    Danjo Y, Shinozaki Y, Natsubori A, Kubota Y, Kashiwagi K, Tanaka KF, Koizumi S., Free PMC Article

    01/29/2022
    MLC1 contributes to restore astrocyte homeostasis after inflammation.

    Megalencephalic Leukoencephalopathy with Subcortical Cysts Protein-1 (MLC1) Counteracts Astrocyte Activation in Response to Inflammatory Signals.
    Brignone MS, Lanciotti A, Serafini B, Mallozzi C, Sbriccoli M, Veroni C, Molinari P, Elorza-Vidal X, Petrucci TC, Estévez R, Ambrosini E.

    04/4/2020
    we examined the cerebellum of Mlc1-over-expressing mouse and found that the distribution of Bergmann glia was normally compacted along the Purkinje cell layer until postnatal day 10

    Ectopic positioning of Bergmann glia and impaired cerebellar wiring in Mlc1-over-expressing mice.
    Kikuchihara S, Sugio S, Tanaka KF, Watanabe T, Kano M, Yamazaki Y, Watanabe M, Ikenaka K.

    09/28/2019
    Disturbed astrocyte regulation of ion and water homeostasis in MLC causes hyperexcitability of neuronal networks and seizures

    Seizures and disturbed brain potassium dynamics in the leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts.
    Dubey M, Brouwers E, Hamilton EMC, Stiedl O, Bugiani M, Koch H, Kole MHP, Boschert U, Wykes RC, Mansvelder HD, van der Knaap MS, Min R., Free PMC Article

    08/3/2019
    Mlc1 overexpression reduced activity of the astrocytic sodium pump, which may underlie white matter edema followed by myelin membrane splitting

    Astrocyte-mediated infantile-onset leukoencephalopathy mouse model.
    Sugio S, Tohyama K, Oku S, Fujiyoshi K, Yoshimura T, Hikishima K, Yano R, Fukuda T, Nakamura M, Okano H, Watanabe M, Fukata M, Ikenaka K, Tanaka KF.

    02/3/2018
    we demonstrate an evolutionary conserved role for MLC1 in regulating glial surface levels of GLIALCAM, and this interrelationship explains why patients with mutations in either gene (MLC1 or GLIALCAM) share the same clinical phenotype.

    Megalencephalic leukoencephalopathy with subcortical cysts protein 1 regulates glial surface localization of GLIALCAM from fish to humans.
    Sirisi S, Folgueira M, López-Hernández T, Minieri L, Pérez-Rius C, Gaitán-Peñas H, Zang J, Martínez A, Capdevila-Nortes X, De La Villa P, Roy U, Alia A, Neuhauss S, Ferroni S, Nunes V, Estévez R, Barrallo-Gimeno A.

    05/30/2015
    This study demonistrated that Mlc1-null mice replicate the human with megalencephalic leukoencephalopathy with cysts.

    Mice with megalencephalic leukoencephalopathy with cysts: a developmental angle.
    Dubey M, Bugiani M, Ridder MC, Postma NL, Brouwers E, Polder E, Jacobs JG, Baayen JC, Klooster J, Kamermans M, Aardse R, de Kock CP, Dekker MP, van Weering JR, Heine VM, Abbink TE, Scheper GC, Boor I, Lodder JC, Mansvelder HD, van der Knaap MS.

    03/21/2015
    Data indicate that membrane protein MLC1 is crucial for proper localization of adhesion molecule GlialCAM and chloride channel ClC-2, and for changing ClC-2 currents.

    Disrupting MLC1 and GlialCAM and ClC-2 interactions in leukodystrophy entails glial chloride channel dysfunction.
    Hoegg-Beiler MB, Sirisi S, Orozco IJ, Ferrer I, Hohensee S, Auberson M, Gödde K, Vilches C, de Heredia ML, Nunes V, Estévez R, Jentsch TJ.

    12/6/2014
    The complete cDNA sequence, exon-intron organization, and 5'-flanking regulatory region of murine Mlc1 have been reported.

    The genomic organization of the murine Mlc1 (Wkl1, KIAA0027) gene.
    Steinke V, Meyer J, Syagailo YV, Ortega G, Hameister H, Mössner R, Schmitt A, Lesch KP.

    01/21/2010
    Our data provide a mouse MLC1 expression map that could be useful to understand the phenotype of MLC patients, and suggested that MLC disease is caused by an astrocytic and a neuronal dysfunction

    Expression patterns of MLC1 protein in the central and peripheral nervous systems.
    Teijido O, Casaroli-Marano R, Kharkovets T, Aguado F, Zorzano A, Palacín M, Soriano E, Martínez A, Estévez R.

    01/21/2010
    Because the temporal expression of Mlc1 indicates that, in contrast to developing and mature astrocytes, oligodendrocytes are devoid of Mlc1 expression, white matter tract abnormalities in these disorders may result from a primary astrocytic defect.

    The brain-specific protein MLC1 implicated in megalencephalic leukoencephalopathy with subcortical cysts is expressed in glial cells in the murine brain.
    Schmitt A, Gofferje V, Weber M, Meyer J, Mössner R, Lesch KP.

    01/21/2010
    Wkl1 is not associated with schizophrenia.

    Is the WKL1 gene associated with schizophrenia?
    Kaganovich M, Peretz A, Ritsner M, Bening Abu-Shach U, Attali B, Navon R.

    01/21/2010
    Localization and functional analysis of Mlc1 were done in megalocephalic leukoencephalopathy with subcortical cysts.

    Localization and functional analyses of the MLC1 protein involved in megalencephalic leukoencephalopathy with subcortical cysts.
    Teijido O, Martínez A, Pusch M, Zorzano A, Soriano E, Del Río JA, Palacín M, Estévez R.

    01/21/2010
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