Global ETD Search
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Showing 1 to 2 of 2 for “"mitochondrial aminoacyl tRNA-synthetase"”.
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Modelling neuronal mitochondrial aminoacyl-tRNA synthetase defects
Mitochondrial diseases cover a broad group of disorders caused by mitochondrial dysfunction, often affecting organs with high metabolic demand, such as the brain and skeletal muscle. Mutations in mitochondrial aminoacyl-tRNA synthetase (MT-ARS) genes, which are crucial for mitochondrial protein …
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Creating CRISPR-Cas9 genome edited iPSC lines to model a patient-specific mutation in mitochondrial disease
Mitochondrial aminoacyl tRNA-synthetases (mt-aaRS) catalyse the charging of tRNAs with their cognate amino acids in mitochondria. Mutations in mt-aaRS cause tissue-specific mitochondrial diseases, especially affecting tissues with high energy expenditure like the nervous system, heart, and kidneys. …