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

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 mutations in GLA causing the lysosomal storage disorder Fabry disease (FD), for which heart dysfunction is a major cause of mortal...

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Detalles Bibliográficos
Autores principales: Birket, Matthew J., Raibaud, Sophie, Lettieri, Miriam, Adamson, Antony D., Letang, Valerie, Cervello, Pauline, Redon, Nicolas, Ret, Gwenaelle, Viale, Sandra, Wang, Bing, Biton, Bruno, Guillemot, Jean-Claude, Mikol, Vincent, Leonard, John P., Hanley, Neil A., Orsini, Cecile, Itier, Jean-Michel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6700557/
https://www.ncbi.nlm.nih.gov/pubmed/31378672
http://dx.doi.org/10.1016/j.stemcr.2019.07.004

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