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Chunk #19 — RESULTS — Patient CLP1R140H iNeurons show intron-containing pre-tRNAs accumulation and mature tRNA depletion

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CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration.
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also noted an accumulation of Chr19.tRNA10-IleTAT intron (data not shown). Correspondingly, there was a reduction in the amounts of mature tRNAs for Isoleucine and Leucine for mature tRNA IleTAT (pan) and mature tRNA LeuCAA (pan). These results were quantified as the percent mature tRNA or pre-tRNA of total tRNA for each isoacceptor, and demonstrate neural specific changes in pre- and mature tRNA transcript levels.