GM1 Gangliosidosis: Mechanisms and Management

por Rha, Allisandra K, Maguire, Anne S, Martin, Douglas R
Publicado 2021

Generation of two induced pluripotent stem cell lines (CHOCi002-A and CHOCi003-A) from Pompe disease patients with compound heterozygous mutations in the GAA gene

por Christensen, Chloe, Heckman, Perla, Rha, Allisandra, Kan, Shih-Hsin, Harb, Jerry, Wang, Raymond
Publicado 2023

Polyanion order controls liquid-to-solid phase transition in peptide/nucleic acid co-assembly

por Gordon-Kim, Christella, Rha, Allisandra, Poppitz, George A., Smith-Carpenter, Jillian, Luu, Regina, Roberson, Alexis B., Conklin, Russell, Blake, Alexis, Lynn, David G.
Publicado 2022

Base editing corrects the common Salla disease SLC17A5 c.115C>T variant

por Harb, Jerry F., Christensen, Chloe L., Kan, Shih-Hsin, Rha, Allisandra K., Andrade-Heckman, Perla, Pollard, Laura, Steet, Richard, Huang, Jeffrey Y., Wang, Raymond Y.
Publicado 2023

CRISPR-mediated generation and characterization of a Gaa homozygous c.1935C>A (p.D645E) Pompe disease knock-in mouse model recapitulating human infantile onset-Pompe disease

por Kan, Shih-hsin, Huang, Jeffrey Y., Harb, Jerry, Rha, Allisandra, Dalton, Nancy D., Christensen, Chloe, Chan, Yunghang, Davis-Turak, Jeremy, Neumann, Jonathan, Wang, Raymond Y.
Publicado 2022