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Article

Molecular basis of neurodegeneration in a mouse model of Polr3-related disease.

eLife - 5 Nov 2024

Moir Robyn D, Merheb Emilio, Chitu Violeta, Stanley E Richard, Willis Ian M

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 mouse...

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Identifiers

PMID: 39499645
DOI: 10.7554/eLife.95314
PMCID: PMC11537486

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