A homozygous variant in CHMP3 is associated with complex hereditary spastic paraplegia

Keyphrases

• Homozygous Variant 100%
• Hereditary Spastic Paraplegia 100%
• CHMP3 100%
• Autophagy 50%
• Patient Fibroblasts 50%
• Autophagosome 50%
• Electron Microscopy 33%
• Endosome 33%
• Family Members 16%
• Cell Behavior 16%
• MRNA Expression 16%
• Quantitative PCR 16%
• Primary Fibroblasts 16%
• Plasmid 16%
• Ectopic Expression 16%
• Western Blot Analysis 16%
• Heterogeneous Groups 16%
• Exome Sequencing 16%
• Protein Expression 16%
• Immunofluorescence 16%
• Neurodegenerative Diseases 16%
• Genetic Basis 16%
• Particle number 16%
• Segregation Analysis 16%
• Amyotrophic Lateral Sclerosis 16%
• Gene mutation 16%
• Lysosome 16%
• Arab Muslim 16%
• Monogenic 16%
• Autophagy Pathway 16%
• Immunoblot 16%
• Consanguineous Family 16%
• Intracellular Accumulation 16%
• Sanger Sequencing 16%
• LC3-II 16%
• Familial Segregation 16%
• Particle Accumulation 16%
• Channelrhodopsin-2 (ChR2) 16%
• Frontal Dementia 16%
• GRCh38 16%
• Hereditary Ataxia 16%
• Variant Filtering 16%
• Autophagy Markers 16%
• Autosomal Recessive Inheritance 16%
• Missense Variant 16%
• Healthy Families 16%
• Degraded Protein 16%

Biochemistry, Genetics and Molecular Biology

• Autophagy 100%
• Fibroblast 80%
• Wild Type 40%
• Electron Microscopy 40%
• Autophagosome 40%
• Genetics 20%
• Western Blot 20%
• Plasmid 20%
• Immunofluorescence 20%
• Ectopic Expression 20%
• Missense 20%
• Lysosome 20%
• Real-Time Polymerase Chain Reaction 20%
• Cell Function 20%
• Protein Expression 20%
• Exome Sequencing 20%
• Autosomal Recessive Inheritance 20%
• Messenger RNA 20%
• Immunoblotting 20%
• Dideoxynucleotide Sequencing 20%