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

Genetically Corrected iPSC-Derived Neural Stem Cell Grafts Deliver Enzyme Replacement to Affect CNS Disease in Sanfilippo B Mice

por Clarke, Don, Pearse, Yewande, Kan, Shih-hsin, Le, Steven Q., Sanghez, Valentina, Cooper, Jonathan D., Dickson, Patricia I., Iacovino, Michelina
Publicado 2018

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-Cas9 generated Pompe knock-in murine model exhibits early-onset hypertrophic cardiomyopathy and skeletal muscle weakness

por Huang, Jeffrey Y., Kan, Shih-Hsin, Sandfeld, Emilie K., Dalton, Nancy D., Rangel, Anthony D., Chan, Yunghang, Davis-Turak, Jeremy, Neumann, Jon, Wang, Raymond Y.
Publicado 2020

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

Brain transplantation of genetically corrected Sanfilippo type B neural stem cells induces partial cross-correction of the disease

por Pearse, Yewande, Clarke, Don, Kan, Shih-hsin, Le, Steven Q., Sanghez, Valentina, Luzzi, Anna, Pham, Ivy, Nih, Lina R., Cooper, Jonathan D., Dickson, Patricia I., Iacovino, Michelina
Publicado 2022

A Humoral Immune Response Alters the Distribution of Enzyme Replacement Therapy in Murine Mucopolysaccharidosis Type I

por Le, Steven Q., Kan, Shih-hsin, Clarke, Don, Sanghez, Valentina, Egeland, Martin, Vondrak, Kristen N., Doherty, Terence M., Vera, Moin U., Iacovino, Michelina, Cooper, Jonathan D., Sands, Mark S., Dickson, Patricia I.
Publicado 2017

A novel, long-lived, and highly engraftable immunodeficient mouse model of mucopolysaccharidosis type I

por Mendez, Daniel C, Stover, Alexander E, Rangel, Anthony D, Brick, David J, Nethercott, Hubert E, Torres, Marissa A, Khalid, Omar, Wong, Andrew MS, Cooper, Jonathan D, Jester, James V, Monuki, Edwin S, McGuire, Cian, Le, Steven Q, Kan, Shih-hsin, Dickson, Patricia I, Schwartz, Philip H
Publicado 2015

Impaired mitophagy in Sanfilippo a mice causes hypertriglyceridemia and brown adipose tissue activation

por Tillo, Miguel, Lamanna, William C., Dwyer, Chrissa A., Sandoval, Daniel R., Pessentheiner, Ariane R., Al-Azzam, Norah, Sarrazin, Stéphane, Gonzales, Jon C., Kan, Shih-Hsin, Andreyev, Alexander Y., Schultheis, Nicholas, Thacker, Bryan E., Glass, Charles A., Dickson, Patricia I., Wang, Raymond Y., Selleck, Scott B., Esko, Jeffrey D., Gordts, Philip L.S.M.
Publicado 2022