FSGS-causing INF2 mutation impairs cleaved INF2 N-fragment functions in podocytes
B Subramanian, J Chun, C Perez-Gill… - Journal of the …, 2020 - journals.lww.com
Background Mutations in the gene encoding inverted formin-2 (INF2), a member of the
formin family of actin regulatory proteins, are among the most common causes of autosomal
dominant FSGS. INF2 is regulated by interaction between its N-terminal diaphanous
inhibitory domain (DID) and its C-terminal diaphanous autoregulatory domain (DAD). INF2
also modulates activity of other formins, such as the mDIA subfamily, and promotes stable
microtubule assembly. Why the disease-causing mutations are restricted to the N terminus …
formin family of actin regulatory proteins, are among the most common causes of autosomal
dominant FSGS. INF2 is regulated by interaction between its N-terminal diaphanous
inhibitory domain (DID) and its C-terminal diaphanous autoregulatory domain (DAD). INF2
also modulates activity of other formins, such as the mDIA subfamily, and promotes stable
microtubule assembly. Why the disease-causing mutations are restricted to the N terminus …
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