Transcriptomics

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Pathogenic mechanism and therapeutic intervention of impaired N7-methylguanosine (m7G) tRNA modification


ABSTRACT: Mutations of tRNA modification enzymes including the tRNA m7G methyltransferase complex component WDR4 were frequently found in patients with neural disorders, while the pathogenic mechanism and therapeutic intervention strategies are poorly explored. In this study, we revealed that patient-derived WDR4 mutation leads to temporal and cell-type-specific neural degeneration, and directly causes neural developmental disorders in mice.

ORGANISM(S): Mus musculus

PROVIDER: GSE229612 | GEO | 2024/10/15

REPOSITORIES: GEO

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