Steroid-Resistant Nephrotic Syndrome-Associated MYO1E Mutations Have Differential Effects on Myosin 1e Localization, Dynamics, and Activity.

Pei-Ju Liu,Laura K Gunther, Michael E Garone, Chunling Zhang,Diana Perez,Jing Bi-Karchin,Christopher D Pellenz,Sharon E Chase,Maria F Presti,Eric L Plante,Claire E Martin,Svjetlana Lovric,Christopher M Yengo,Friedhelm Hildebrandt,Mira Krendel

Journal of the American Society of Nephrology : JASN（2022）

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摘要

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.

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关键词

actin,endocytosis,genetic renal disease,myosin,nephrotic syndrome,podocyte

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