The double whammy of ER-retention and dominant-negative effects in numerous autosomal dominant diseases: significance in disease mechanisms and therapy.

Abstract excerpt

The endoplasmic reticulum (ER) employs stringent quality control mechanisms to ensure the integrity of protein folding, allowing only properly folded, processed and assembled proteins to exit the ER and reach their functional destinations. Mutant proteins unable to attain their correct tertiary conformation or form complexes with their partners are retained in the ER and subsequently degraded through...

Topics

• Humans
• Endoplasmic Reticulum
• Genes, Dominant
• Endoplasmic Reticulum-Associated Degradation
• Protein Folding
• Mutation