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, Allisandra K. Rha, Nancy D. Dalton, Chloe L. Christensen, Yunghang Chan, Jeremy Davis‐Turak, Jon C. Neumann, 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.
bioRxiv · May 30, 2022 · PreprintGenetics