X MARCKS the spot: myristoylated alanine-rich C kinase substrate in neuronal function and disease

por Brudvig, Jon J., Weimer, Jill M.
Publicado 2015

CLN7 gene therapy: hope for an ultra-rare condition

por Brudvig, Jon J., Weimer, Jill M.
Publicado 2022

Transmembrane Batten Disease Proteins Interact With a Shared Network of Vesicle Sorting Proteins, Impacting Their Synaptic Enrichment

por Rechtzigel, Mitchell J., Meyerink, Brandon L., Leppert, Hannah, Johnson, Tyler B., Cain, Jacob T., Ferrandino, Gavin, May, Danielle G., Roux, Kyle J., Brudvig, Jon J., Weimer, Jill M.
Publicado 2022

Glycerophosphoinositol is Elevated in Blood Samples From CLN3(Δex7-8) pigs, Cln3(Δex7-8) Mice, and CLN3-Affected Individuals

por Brudvig, Jon J, Swier, Vicki J, Johnson, Tyler B, Cain, Jacob C, Pratt, Melissa, Rechtzigel, Mitch, Leppert, Hannah, Dang Do, An N, Porter, Forbes D, Weimer, Jill M
Publicado 2022

A novel porcine model of CLN3 Batten disease recapitulates clinical phenotypes

por Swier, Vicki J., White, Katherine A., Johnson, Tyler B., Wang, Xiaojun, Han, Jimin, Pearce, David A., Singh, Ruchira, Drack, Arlene V., Pfeifer, Wanda, Rogers, Christopher S., Brudvig, Jon J., Weimer, Jill M.
Publicado 2023

Sortilin inhibition treats multiple neurodegenerative lysosomal storage disorders

por Leppert, Hannah G., Anderson, Joelle T., Timm, Kaylie J., Davoli, Cristina, Pratt, Melissa A., Booth, Clarissa D., White, Katherine A., Rechtzigel, Mitchell J., Meyerink, Brandon L., Johnson, Tyler B., Brudvig, Jon J., Weimer, Jill M.
Publicado 2023

Endolysosomal N-glycan processing is critical to attain the most active form of the enzyme acid alpha-glucosidase

por Selvan, Nithya, Mehta, Nickita, Venkateswaran, Suresh, Brignol, Nastry, Graziano, Matthew, Sheikh, M. Osman, McAnany, Yuliya, Hung, Finn, Madrid, Matthew, Krampetz, Renee, Siano, Nicholas, Mehta, Anuj, Brudvig, Jon, Gotschall, Russell, Weimer, Jill M., Do, Hung V.
Publicado 2021

Early postnatal administration of an AAV9 gene therapy is safe and efficacious in CLN3 disease

por Johnson, Tyler B., Brudvig, Jon J., Likhite, Shibi, Pratt, Melissa A., White, Katherine A., Cain, Jacob T., Booth, Clarissa D., Timm, Derek J., Davis, Samantha S., Meyerink, Brandon, Pineda, Ricardo, Dennys-Rivers, Cassandra, Kaspar, Brian K., Meyer, Kathrin, Weimer, Jill M.
Publicado 2023

Intracranial delivery of AAV9 gene therapy partially prevents retinal degeneration and visual deficits in CLN6-Batten disease mice

por White, Katherine A., Nelvagal, Hemanth R., Poole, Timothy A., Lu, Bin, Johnson, Tyler B., Davis, Samantha, Pratt, Melissa A., Brudvig, Jon, Assis, Ana B., Likhite, Shibi, Meyer, Kathrin, Kaspar, Brian K., Cooper, Jonathan D., Wang, Shaomei, Weimer, Jill M.
Publicado 2021