Article

Molecular basis of neurodegeneration in a mouse model of <i>Polr3</i> -related disease

2023-12-12

Abstract excerpt

Pathogenic variants in subunits of RNA polymerase (Pol) III cause a spectrum of Polr3 -related neurodegenerative diseases including 4H leukodystrophy. Disease onset occurs from infancy to early adulthood and is associated with a variable range and severity of neurological and non-neurological features. The molecular basis of Polr3 -related disease pathogenesis is unknown. We developed a postnatal whole-body mous...

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Literature Corpus work: a6111126-2145-50d3-afd1-ec85fada67e9
DOI: 10.1101/2023.12.12.571310

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