Publications by authors named "Kensuke Yabuuchi"
Article Synopsis
- - Alport syndrome (AS) is a genetic disorder linked to mutations in the COL4A5 gene, leading to chronic kidney disease, with no specific treatment available yet.
- - Researchers conducted a study using kidney organoids from AS patient-derived stem cells (AS-iPSCs) and discovered that exon skipping could partially restore the missing COL4A5 protein in lab tests.
- - Despite the potential success in vitro, when AS-organoids were transplanted into mice, they showed minimal effects in improving kidney structure compared to control organoids, indicating more research is needed.
Alport syndrome (AS) is a progressive inherited kidney disease characterized by hearing loss and ocular abnormalities. There are three forms of AS depending on inheritance mode: X-linked Alport syndrome (XLAS), autosomal recessive AS (ARAS), and autosomal dominant AS (ADAS). XLAS is caused by pathogenic variants in COL4A5, which encodes type IV collagen α5 chain, while ADAS and ARAS are caused by variants in COL4A3 or COL4A4, which encode type IV collagen α3 or α4 chain, respectively.
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