Localization and functional analyses of the MLC1 protein involved in megalencephalic leukoencephalopathy with subcortical cysts
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Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autismMLC1: a novel protein in distal astroglial processesMegalencephalic leukoencephalopathy with subcortical cysts protein 1 functionally cooperates with the TRPV4 cation channel to activate the response of astrocytes to osmotic stress: dysregulation by pathological mutationsMLC1 is associated with the dystrophin-glycoprotein complex at astrocytic endfeetMolecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defectsBrain-specific deletion of extracellular signal-regulated kinase 2 mitogen-activated protein kinase leads to aberrant cortical collagen deposition.Megalencephalic leukoencephalopathy with subcortical cysts protein-1 modulates endosomal pH and protein trafficking in astrocytes: relevance to MLC disease pathogenesisThe beta1 subunit of the Na,K-ATPase pump interacts with megalencephalic leucoencephalopathy with subcortical cysts protein 1 (MLC1) in brain astrocytes: new insights into MLC pathogenesisA case of megalencephalic leukoencephalopathy with subcortical cysts type 1 was identified with a novel compound heterozygous alteration (c.135delC; c.423+2dupT) in China.Knockdown of MLC1 in primary astrocytes causes cell vacuolation: a MLC disease cell model.Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants.Functional studies of MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts.GlialCAM, a protein defective in a leukodystrophy, serves as a ClC-2 Cl(-) channel auxiliary subunit.Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathyTen Novel Mutations in Chinese Patients with Megalencephalic Leukoencephalopathy with Subcortical Cysts and a Long-Term Follow-Up Research.Magnetic resonance imaging findings of two sisters with Van der Knaap leukoencephalopathy.Murine therapeutic models for Charcot-Marie-Tooth (CMT) disease.ASTROCYTES: EMERGING STARS IN LEUKODYSTROPHY PATHOGENESIS.Regulatory-auxiliary subunits of CLC chloride channel-transport proteins.MLC1 protein: a likely link between leukodystrophies and brain channelopathies.Megalencephalic leukoencephalopathy with subcortical cysts protein-1 regulates epidermal growth factor receptor signaling in astrocytes.Megalencephalic leukoencephalopathy with subcortical cysts protein 1 regulates glial surface localization of GLIALCAM from fish to humans.Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms.Megalencephalic leukoencephalopathy with cysts: the Glialcam-null mouse modelMolecular prenatal diagnosis of megalencephalic leukoencephalopathy with subcortical cysts in a child from southwest of Iran.Curcumin decreases amyloid-beta peptide levels by attenuating the maturation of amyloid-beta precursor protein.Expanding the spectrum of megalencephalic leukoencephalopathy with subcortical cysts in two patients with GLIALCAM mutations.Insights into MLC pathogenesis: GlialCAM is an MLC1 chaperone required for proper activation of volume-regulated anion currents.Mice with megalencephalic leukoencephalopathy with cysts: a developmental angle.Megalencephalic leukoencephalopathy with subcortical cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated in vitro using an antisense morpholino oligonucleotide.Depolarization causes the formation of a ternary complex between GlialCAM, MLC1 and ClC-2 in astrocytes: implications in megalencephalic leukoencephalopathy.Disrupting MLC1 and GlialCAM and ClC-2 interactions in leukodystrophy entails glial chloride channel dysfunction.Expression of LRRC8/VRAC Currents in Xenopus Oocytes: Advantages and Caveats.Update on leukodystrophies
P2860
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P2860
Localization and functional analyses of the MLC1 protein involved in megalencephalic leukoencephalopathy with subcortical cysts
description
2004 nî lūn-bûn
@nan
2004 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
Localization and functional an ...... lopathy with subcortical cysts
@ast
Localization and functional an ...... lopathy with subcortical cysts
@en
Localization and functional an ...... lopathy with subcortical cysts
@nl
type
label
Localization and functional an ...... lopathy with subcortical cysts
@ast
Localization and functional an ...... lopathy with subcortical cysts
@en
Localization and functional an ...... lopathy with subcortical cysts
@nl
prefLabel
Localization and functional an ...... lopathy with subcortical cysts
@ast
Localization and functional an ...... lopathy with subcortical cysts
@en
Localization and functional an ...... lopathy with subcortical cysts
@nl
P2093
P50
P921
P3181
P356
P1476
Localization and functional an ...... lopathy with subcortical cysts
@en
P2093
Antonio Zorzano
Eduardo Soriano
Manuel Palacín
Oscar Teijido
P304
P3181
P356
10.1093/HMG/DDH291
P407
P577
2004-09-14T00:00:00Z