Article

Biallelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a syndromic neurodevelopmental disorder

2024-07-22

Abstract excerpt

The post-transcriptional modification of tRNAs plays a key role in tRNA folding and function to ensure proper levels of protein synthesis during growth and development. Pathogenic variants in tRNA modification enzymes have been implicated in diverse human neurodevelopmental and neurological disorders. However, the molecular basis for many of these disorders remains unknown, thereby limiting our understanding and p...

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Literature Corpus work: e0a09dc9-239e-5ff4-a279-4a22fd629a4a
DOI: 10.1101/2024.07.18.24310581

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