A Novel TAF1C Missense Variant Causes Neurodevelopmental Regression via Disrupted Nucleolar Localization and Nucleoplasmic Aggregation.

Abstract excerpt

TAF1C (TATA box-binding protein-associated factor, RNA polymerase I subunit C) is an essential component of the RNA polymerase I transcription machinery responsible for ribosomal RNA synthesis and nucleolar function. Variants in TAF1C have recently emerged as rare genetic causes of early-onset neurological syndromes characterized by nucleolar stress and impaired ribosome biogenesis, leading to developmental delay...

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