Impaired trafficking of the very low density lipoprotein receptor caused by missense mutations associated with dysequilibrium syndrome

Keyphrases

• Missense mutation 100%
• Dysequilibrium Syndrome 100%
• Low-density Lipoprotein Receptor 100%
• Pathogenicity 33%
• Low-density Lipoprotein Receptor Gene 33%
• Reelin Signaling 33%
• Receptor-interacting Protein Kinase 1 (RIPK1) 16%
• Biochemical Analysis 16%
• Autosomal Recessive 16%
• Functional Activity 16%
• Cellular Mechanisms 16%
• Subcellular Localization 16%
• Mutant Protein 16%
• Intracellular Trafficking 16%
• Plasma Membrane 16%
• Functional Analysis 16%
• Cerebellum 16%
• Site-directed mutagenesis 16%
• Heterogeneous Conditions 16%
• Late-onset Cerebellar Ataxia 16%
• Cerebral Cortex 16%
• ER Quality Control 16%
• Confocal Microscopy Analysis 16%
• Functional Consequences 16%
• Plasma Protein Binding 16%
• ER Retention 16%
• Initiating Event 16%
• Functional Inactivation 16%
• Neuronal Migration 16%
• Cultured Cell Lines 16%
• Reelin 16%
• Gene Encoding 16%
• Syndrome Type 16%

Biochemistry, Genetics and Molecular Biology

• Missense Mutation 100%
• VLDL Receptor 100%
• Reelin 50%
• Receptor Gene 33%
• Autosomal Recessive Inheritance 16%
• Wild Type 16%
• Signal Transduction 16%
• Quality Control 16%
• Cell Culture 16%
• Confocal Microscopy 16%
• Subcellular Localization 16%
• Intracellular Trafficking 16%
• Cell Membrane 16%
• ER Retention 16%
• Site-Directed Mutagenesis 16%