Article

Engineered CRISPR-Base Editors as a Permanent Treatment for Familial Dysautonomia

2024-11-27

Abstract excerpt

Familial dysautonomia (FD) is a fatal autosomal recessive sensory and autonomic neuropathy. FD is caused by a T-to-C point mutation in intron 20 of the Elongator acetyltransferase complex subunit 1 ( ELP1 ) gene, which results in tissue-specific skipping of exon 20 to cause a premature termination codon and thus redues ELP1 protein levels. Here, we developed a CRISPR-Cas-based cytosine base editing strategy to p...

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Literature Corpus work: 312d6208-dcb9-5bcc-916d-b99f68f4ad01
DOI: 10.1101/2024.11.27.625322

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