Article
Ribosomal protein mutations induce autophagy through S6 kinase inhibition of the insulin pathway.
PLoS genetics - 1 Jan 2014
Heijnen Harry F, van Wijk Richard, Pereboom Tamara C, Goos Yvonne J, Seinen Cor W, van Oirschot Brigitte A, van Dooren Rowie, Gastou Marc, Giles Rachel H, van Solinge Wouter, Kuijpers Taco W, Gazda Hanna T, Bierings Marc B, Da Costa Lydie, MacInnes Alyson W
Abstract excerpt
Mutations affecting the ribosome lead to several diseases known as ribosomopathies, with phenotypes that include growth defects, cytopenia, and bone marrow failure. Diamond-Blackfan anemia (DBA), for example, is a pure red cell aplasia linked to the mutation of ribosomal protein (RP) genes. Here we show the knock-down of the DBA-linked RPS19 gene induces the cellular self-digestion process of autophagy, a pathway...
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