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Regulation of protein synthesis makes a major contribution to post-transcriptional control pathways. During disease, or under stress, cells initiate processes to reprogramme protein synthesis and thus orchestrate the appropriate...

Elongation control protein synthesis mRNA translation control Aminoacylation Animals Carcinogenesis Disease HEALTH Humans Peptide Chain Elongation Translational RNA Transfer

Mutations in FARS2 are known to cause dysfunction of mitochondrial translation due to deficient aminoacylation of the mitochondrial phenylalanine tRNA. Here, we report three novel mutations in FARS2 found in two patients in a...

Early-onset epileptic encephalopathy FARS2 hereditary spastic paraplegia Mitochondria Mitochondrial aminoacyl-tRNA synthetase Neurogenic bladder Adolescent Amino Acyl-tRNA Synthetases Aminoacylation Brain Cells Cultured Epilepsy Exome Female FIBROBLASTS Heterozygote Humans Infant Magnetic Resonance Imaging Male Mitochondria Mitochondrial Proteins Muscle Skeletal Mutation Missense Oxygen Consumption Phenotype Phenylalanine-tRNA Ligase RNA Transfer Sequence Analysis DNA Spastic Paraplegia Hereditary

Through dominant mutations, aminoacyl-tRNA synthetases constitute the largest protein family linked to Charcot-Marie-Tooth disease (CMT). An example is CMT subtype 2N (CMT2N), caused by individual mutations spread out in AlaRS...

AlaRS Charcot-Marie-Tooth disease Neuropilin 1 Alanine-tRNA Ligase Aminoacylation Cells Cultured Charcot-Marie-Tooth disease Crystallography X-Ray Deuterium Exchange Measurement Humans Lymphocytes Mutation Neuropilin-1 Primary Cell Culture Protein Binding Protein Domains Recombinant Proteins SCATTERING Small Angle