Publications by authors named "Aimi Owaki"
Article Synopsis
- Alport syndrome (AS) is a genetic kidney disease linked to mutations in type IV collagen, specifically the α3, α4, and α5 chains, with severe forms caused by nonsense mutations.
- An exon-skipping method developed to remove these mutations showed promise in alleviating AS pathology, but its effects on trimerization (the process of forming collagen structures) had not been fully understood.
- The study revealed that exon deletion can affect collagen trimer secretion differently, with some deletions enabling normal trimer formation and secretion while others hindered it, highlighting potential therapeutic strategies for AS but with limitations based on the specific deletions' impacts on secretion.
Key Points: Screening of natural product extracts to find candidate compounds that increase mutant type IV collagen 3,4,5 (345(IV)) trimer secretion in Alport syndrome (AS). Cyclosporin A (CsA) and alisporivir (ALV) increase mutant 345(IV) trimer secretion in AS. PPIF/cyclophilin D mediates the effect of CsA and ALV on mutant trimer secretion.
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