NIH R01 · 2025
Ribosomes and growth regulation
Ribosomes are responsible for protein synthesis in the cell and are essential for growth and cell division. Genetic defects that interfere with ribosome biogenesis reduce translation and growth and cause human diseases. Heterozygous mutation of many ribosomal protein genes causes Diamond-Blackfan Anemia, which is associated with early onset anemia, morphological defects, and cancer predisposition. Ribosomal protein genes are also haploinsufficient in the fruitfly Drosophila, where they cause reduced protein synthesis, slow growth and development, and morphological defects. Unexpectedly, these effects are found to have a transcriptional basis, that is, ribosomal protein mutations activate a…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.