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Avenue Pierre Brossolette on Muck Rack

Avenue Pierre Brossolette

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Articles

A Human Stem Cell Model of Fabry Disease Implicates LIMP-2 Accumulation in Cardiomyocyte Pathology

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By Miriam Lettieri, Matthew J. Birket, Sophie Raibaud, Avenue Pierre Brossolette
| Cell Press Verified
Highlights • Quantitative proteomics of Fabry disease iPSC cardiomyocytes and secretome • LIMP-2, a lysosomal protein, accumulates with α-gal A deficiency in cardiomyocytes • LIMP-2 promotes secretion of cathepsin F and HSPA2/HSP70-2 • Gene correction of Fabry disease iPSCs reverts the cardiomyocyte phenotype Summary Here, we have used patient-derived induced pluripotent stem cell (iPSC) and gene-editing technology to study the cardiac-related molecular and functional consequences of...
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