Article
Identification of c.146G > A mutation in a Fabry patient and its correction by customized Cas9 base editors in vitro.
International journal of biological macromolecules - 1 Dec 2024
Yang Zhi, Li Hao, Luo Mei, Yi Haonan, Han Xinyu, Liu Enze, Yao Shaohua, Hu Zhangxue
Abstract excerpt
Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by mutations in the GLA gene, leading to reduced α-galactosidase (α-Gal A) activity. Current treatments, like enzyme replacement, have limitations affecting efficacy and patient outcomes. CRISPR/Cas9 genome editing tools may offer the potential to develop therapeutic strategy via correcting GLA mutations. In this study, we diagnosed a female...
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