Article
Counteracting the Common Shwachman-Diamond Syndrome-Causing SBDS c.258+2T>C Mutation by RNA Therapeutics and Base/Prime Editing.
International journal of molecular sciences - 16 Feb 2023
Peretto Laura, Tonetto Elena, Maestri Iva, Bezzerri Valentino, Valli Roberto, Cipolli Marco, Pinotti Mirko, Balestra Dario
Abstract excerpt
Shwachman-Diamond syndrome (SDS) represents one of the most common inherited bone marrow failure syndromes and is mainly caused by SBDS gene mutations. Only supportive treatments are available, with hematopoietic cell transplantation required when marrow failure occurs. Among all causative mutations, the SBDS c.258+2T>C variant at the 5' splice site (ss) of exon 2 is one of the most frequent. Here, we...
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