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Article

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

Journal of the American Society of Nephrology : JASN - 1 Nov 2022

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

Abstract excerpt

BACKGROUND: Myo1e is a nonmuscle motor protein enriched in podocytes. Mutations in MYO1E are associated with steroid-resistant nephrotic syndrome (SRNS). Most of the MYO1E variants identified by genomic sequencing have not been functionally characterized. Here, we set out to analyze two mutations in the Myo1e motor domain, T119I and D388H, which were selected on the basis of protein sequence conservation....

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Identifiers

PMID: 36316095
DOI: 10.1681/ASN.2021111505
PMCID: PMC9678034

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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