Functional analysis of missense DARS2 variants in siblings with leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

Keyphrases

• Leukoencephalopathy 100%
• Brainstem 100%
• Lactate 100%
• Functional Analysis 100%
• Missense 100%
• Spinal Cord Involvement 100%
• DARS2 100%
• Pathogenic Variants 40%
• Brain MRI 40%
• MRI Findings 40%
• Developmental Regression 40%
• Mitochondrial Enzymes 40%
• Aspartyl-tRNA Synthetase 40%
• Spasticity 20%
• Oxygen Consumption 20%
• Age of Onset 20%
• Compound Heterozygous mutation 20%
• Exome Sequencing 20%
• Adulthood 20%
• Protein Binding 20%
• Pathogenicity 20%
• Dimerization 20%
• Plasmid 20%
• Carbon Source 20%
• Disease Course 20%
• Progressive Disease 20%
• Slowly Progressive 20%
• Phenotypic Spectrum 20%
• Ataxia 20%
• Yeast Model 20%
• Baker's Yeast 20%
• Nuclear Genes 20%
• In Silico Analysis 20%
• Biallelic 20%
• Orthologues 20%
• Neurometabolic Disorders 20%
• Heterozygous Missense Variant 20%
• Developmental Arrest 20%
• Intrafamilial Variability 20%
• Progressive Ataxia 20%

Biochemistry, Genetics and Molecular Biology

• Enzyme 100%
• Missense 100%
• Aspartic Acid 100%
• Transfer RNA 100%
• Wild Type 50%
• Exome Sequencing 50%
• Binding Protein 50%
• Oxygen Consumption 50%
• Plasmid 50%
• Nuclear Gene 50%
• Homodimerization 50%

Immunology and Microbiology

• Magnetic Resonance Imaging 100%
• Spinal Cord 100%
• Brain Stem 100%
• Wild Type 50%
• Oxygen Consumption 50%
• Protein Binding 50%
• Plasmid 50%
• Whole Exome Sequencing 50%
• Pathogenicity 50%