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Defective protein folding due to a mutation is key in ANE syndrome.

This study suggests that the ANE syndrome mutation in yeast Nop4, analogous to human RBM28, disrupts protein folding and protein-protein interactions, contributing to ribosomal dysfunction.

This study found that overexpressing Rps14 in supporting cells promoted hair cell regeneration in the organ of Corti by facilitating cell proliferation and differentiation.

In this study, researchers found that autophagy is crucial for maintaining the mature protein composition of hair shafts, with its disruption leading to increased levels of various proteins, suggesting potential diagnostic applications for detecting impaired autophagy through hair proteomic analysis.

This study characterized hair from a patient with a ribosomopathy and identified distinct differences, including reduced hair thickness and lipid content, compared to family members.