Article

Functional characterization of <i>Polr3a</i> hypomyelinating leukodystrophy mutations in the <i>S. cerevisiae</i> homolog, <i>RPC160</i>

2020-07-02

Abstract excerpt

Mutations in RNA polymerase III (Pol III) cause hypomeylinating leukodystrophy (HLD) and neurodegeneration in humans. POLR3A and POLR3B, the two largest Pol III subunits, together form the catalytic center and carry the majority of disease alleles. Disease-causing mutations include invariant and highly conserved residues that are predicted to negatively affect Pol III activity and decrease transcriptional output....

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Literature Corpus work: 2124fcec-685b-5eda-ae93-18dfb2869737
DOI: 10.1101/2020.06.30.180125

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