GeneticsbioRxivPreprint
CRISPR-Mediated Generation and Characterization of a Gaa Homozygous c.1935C>A (p.D645E) Pompe Disease Knock-in Mouse Model Recapitulates Human Infantile Onset-Pompe Disease
Shih‐hsin Kan, Jeffrey Y. Huang, Jerry F. Harb…·Raymond Wang
This paper generates and characterizes a Gaa c.1935C>A knock-in mouse model of infantile-onset Pompe disease, showing reduced GAA activity, glycogen accumulation, and cardiac hypertrophy.
DOI 10.1101/2022.05.30.494061