GEO series
Pathogenic mechanism and therapeutic intervention of impaired N7-methylguanosine (m7G) tRNA modification
GSE229612
Mus musculus
Expression profiling by high throughput sequencing; Other; Methylation profiling by high throughput sequencing
24 samples
2024/10/15
GPL30215GPL24247
Summary
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.
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