Steroid-Resistant Nephrotic Syndrome-Associated <i>MYO1E</i> Mutations Have Differential Effects on Myosin 1e Localization, Dynamics, and Activity.
Pei-Ju LiuLaura K GuntherMichael E GaroneChunling ZhangDiana PerezJing Bi-KarchinChristopher D PellenzSharon E ChaseMaria F PrestiEric L PlanteClaire E MartinSvjetlana LovricChristopher M YengoFriedhelm HildebrandtMira KrendelPublished in: Journal of the American Society of Nephrology : JASN (2022)
T119I and D388H mutations are deleterious to Myo1e functions. The experimental approaches used in this study can be applied to future characterization of novel <i>MYO1E</i> variants associated with SRNS.