Article
Trimerization profile of type IV collagen COL4A5 exon deletion in X-linked Alport syndrome.
Clinical and experimental nephrology - 1 Sept 2024
Koyama Yuimi, Suico Mary Ann, Owaki Aimi, Sato Ryoichi, Kuwazuru Jun, Kaseda Shota, Sannomiya Yuya, Horizono Jun, Omachi Kohei, Horinouchi Tomoko, Yamamura Tomohiko, Tsuhako Haruki, Nozu Kandai, Shuto Tsuyoshi, Kai Hirofumi
Abstract excerpt
BACKGROUND: Alport syndrome (AS) is a genetic kidney disease caused by a mutation in type IV collagen α3, α4, and α5, which are normally secreted as heterotrimer α345(IV). Nonsense mutation in these genes causes severe AS phenotype. We previously revealed that the exon-skipping approach to remove a nonsense mutation in α5(IV) ameliorated the AS pathology. However, the effect of removing an exon on trimerization...
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