4-Phenylbutyrate Restores Localization and Membrane Repair to Human Dysferlin Mutation
Abstract
Dysferlinopathies are muscular dystrophies caused by recessive loss-of-function mutations in dysferlin ( DYSF), a membrane protein involved in skeletal muscle membrane repair. We describe a cell-based assay in which human DYSF proteins bearing missense mutations are quantitatively assayed for membrane-localization by flow cytometry, and identified 64 localization-defective DYSF mutations. Using this platform, we show that the clinically approved...
Paper Details
Title
4-Phenylbutyrate Restores Localization and Membrane Repair to Human Dysferlin Mutation
Published Date
Jan 1, 2021
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