Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts
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Title
Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts
Authors
Keywords
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Journal
HUMAN MOLECULAR GENETICS
Volume 20, Issue 16, Pages 3266-3277
Publisher
Oxford University Press (OUP)
Online
2011-05-31
DOI
10.1093/hmg/ddr238
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Note: Only part of the references are listed.- Mutant GlialCAM Causes Megalencephalic Leukoencephalopathy with Subcortical Cysts, Benign Familial Macrocephaly, and Macrocephaly with Retardation and Autism
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- Knockdown of MLC1 in primary astrocytes causes cell vacuolation: A MLC disease cell model
- (2011) Anna Duarri et al. NEUROBIOLOGY OF DISEASE
- Analysis of CLCN2 as Candidate Gene for Megalencephalic Leukoencephalopathy with Subcortical Cysts
- (2010) Gert C. Scheper et al. Genetic Testing and Molecular Biomarkers
- The β1 subunit of the Na,K-ATPase pump interacts with megalencephalic leucoencephalopathy with subcortical cysts protein 1 (MLC1) in brain astrocytes: new insights into MLC pathogenesis
- (2010) Maria S. Brignone et al. HUMAN MOLECULAR GENETICS
- Fluorescent labeling of tetracysteine-tagged proteins in intact cells
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- Expression of hepaCAM and Its Effect on Proliferation of Tumor Cells in Renal Cell Carcinoma
- (2010) Chunhua Xun et al. UROLOGY
- The immunoglobulin-like cell adhesion molecule hepaCAM induces differentiation of human glioblastoma U373-MG cells
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- The immunoglobulin-like cell adhesion molecule hepaCAM modulates cell adhesion and motility through direct interaction with the actin cytoskeleton
- (2009) Mei Chung Moh et al. JOURNAL OF CELLULAR PHYSIOLOGY
- MLC1 trafficking and membrane expression in astrocytes: Role of caveolin-1 and phosphorylation
- (2009) Angela Lanciotti et al. NEUROBIOLOGY OF DISEASE
- Interaction of the immunoglobulin-like cell adhesion molecule hepaCAM with caveolin-1
- (2008) Mei Chung Moh et al. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
- Analysis of transient phosphorylation-dependent protein-protein interactions in living mammalian cells using split-TEV
- (2008) Michael C Wehr et al. BMC BIOTECHNOLOGY
- GlialCAM, an immunoglobulin-like cell adhesion molecule is expressed in glial cells of the central nervous system
- (2008) Linda Favre-Kontula et al. GLIA
- Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defects
- (2008) A. Duarri et al. HUMAN MOLECULAR GENETICS
- Conformational cross-talk between α2A-adrenergic and μ-opioid receptors controls cell signaling
- (2008) Jean-Pierre Vilardaga et al. Nature Chemical Biology
- Detection and identification of plasma proteins that bind GlialCAM using ProteinChip™ Arrays, SELDI-TOF MS, and nano-LC MS/MS
- (2008) Linda Favre-Kontula et al. PROTEOMICS
- Biochemical characterization of MLC1 protein in astrocytes and its association with the dystrophin–glycoprotein complex
- (2007) Elena Ambrosini et al. MOLECULAR AND CELLULAR NEUROSCIENCE
- Purification of the extracellular domain of the membrane protein GlialCAM expressed in HEK and CHO cells and comparison of the glycosylation
- (2007) Jean-Philippe Gaudry et al. PROTEIN EXPRESSION AND PURIFICATION
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