Article

Steroid-resistant nephrotic syndrome associated <i>MYO1E</i> mutations have differential effects on myosin 1e localization, dynamics, and activity

2021-11-12

Abstract excerpt

Myo1e is a non-muscle motor protein enriched in the podocyte foot processes. Mutations in MYO1E are associated with steroid-resistant nephrotic syndrome (SRNS). Here, we set out to differentiate between the pathogenic and neutral MYO1E variants identified in SRNS patients by exome sequencing. Based on protein sequence conservation and structural predictions, two mutations in the motor domain, T119I and D388H, we...

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Literature Corpus work: b1666c1a-f766-51f1-abea-802fb3770cd2
DOI: 10.1101/2021.11.11.468158

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