Article
COL4A6 is dispensable for autosomal recessive Alport syndrome.
Scientific reports - 5 Jul 2016
Murata Tomohiro, Katayama Kan, Oohashi Toshitaka, Jahnukainen Timo, Yonezawa Tomoko, Sado Yoshikazu, Ishikawa Eiji, Nomura Shinsuke, Tryggvason Karl, Ito Masaaki
Abstract excerpt
Alport syndrome is caused by mutations in the genes encoding α3, α4, or α5 (IV) chains. Unlike X-linked Alport mice, α5 and α6 (IV) chains are detected in the glomerular basement membrane of autosomal recessive Alport mice, however, the significance of this finding remains to be investigated. We therefore generated mice lacking both α3 and α6 (IV) chains and compared their renal function and survival with Col4a3...
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