TBC1D8B Mutations Implicate RAB11-Dependent Vesicular Trafficking in the Pathogenesis of Nephrotic Syndrome.
Lina L KampfRonen SchneiderLea GerstnerRoland ThünauerMengmeng ChenMartin HelmstädterAli AmarAna C Onuchic-WhitfordReyner Loza MunarrizAfig BerdeliDominik MüllerEva SchrezenmeierKlemens BuddeShrikant ManeKristen M LaricchiaMichael J BamshadDaniel G MacArthurRichard P LiftonGerd WalzWinfried RömerCarsten BergmannFriedhelm HildebrandtTobias HermlePublished in: Journal of the American Society of Nephrology : JASN (2019)
Novel mutations in TBC1D8B are monogenic causes of SRNS. This gene inhibits RAB11. Our findings suggest that RAB11-dependent vesicular nephrin trafficking plays a role in the pathogenesis of nephrotic syndrome.
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