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Nephrotic Syndrome Gene TBC1D8B Is Required for Endosomal Maturation and Nephrin Endocytosis in Drosophila .

Julian MilosavljevicCamille LempickiKonrad LangHelena HeinkeleLina L KampfClaire LeroyMengmeng ChenLea GerstnerDominik SpitzMinxian WangAndrea U KnobSéverine KayserMartin HelmstädterGerd WalzMartin R PollakTobias Hermle
Published in: Journal of the American Society of Nephrology : JASN (2022)
are not infrequent among patients with FSGS. TBC1D8B, functioning in endosomal maturation and degradation, is essential for nephrin trafficking.
Keyphrases
  • copy number
  • genome wide