Article
New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells.
European journal of human genetics : EJHG - 1 Apr 2020
Daga Sergio, Donati Francesco, Capitani Katia, Croci Susanna, Tita Rossella, Giliberti Annarita, Valentino Floriana, Benetti Elisa, Fallerini Chiara, Niccheri Francesca, Baldassarri Margherita, Mencarelli Maria Antonietta, Frullanti Elisa, Furini Simone, Conticello Silvestro Giovanni, Renieri Alessandra, Pinto Anna Maria
Abstract excerpt
Alport syndrome (AS) is an inherited genetic disorder characterized by range of alterations from glomerular basement membrane abnormalities up to end-stage renal disease. Pathogenic variants in the collagen α3, α4, and α5 encoding genes are causative both of the autosomal dominant and of the X-linked forms of AS. Podocytes are the only renal cells that are able to produce the COL(IV)a3-a4a5 heterotrimer. We have...
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