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Intracranial delivery of AAV9 gene therapy partially prevents retinal degeneration and visual deficits in CLN6-Batten disease mice.
White KA, Nelvagal HR, Poole TA, Lu B, Johnson TB, Davis S, Pratt MA, Brudvig J, Assis AB, Likhite S, Meyer K, Kaspar BK, Cooper JD, Wang S, Weimer JM. White KA, et al. Among authors: brudvig j. Mol Ther Methods Clin Dev. 2021 Jan 5;20:497-507. doi: 10.1016/j.omtm.2020.12.014. eCollection 2021 Mar 12. Mol Ther Methods Clin Dev. 2021. PMID: 33665223 Free PMC article.
A multimodal approach to identify clinically relevant biomarkers to comprehensively monitor disease progression in a mouse model of pediatric neurodegenerative disease.
Johnson TB, Brudvig JJ, Lehtimäki KK, Cain JT, White KA, Bragge T, Rytkönen J, Huhtala T, Timm D, Vihma M, Puoliväli JT, Poutiainen P, Nurmi A, Weimer JM. Johnson TB, et al. Among authors: brudvig jj. Prog Neurobiol. 2020 Jun;189:101789. doi: 10.1016/j.pneurobio.2020.101789. Epub 2020 Mar 18. Prog Neurobiol. 2020. PMID: 32198061
Endolysosomal N-glycan processing is critical to attain the most active form of the enzyme acid alpha-glucosidase.
Selvan N, Mehta N, Venkateswaran S, Brignol N, Graziano M, Sheikh MO, McAnany Y, Hung F, Madrid M, Krampetz R, Siano N, Mehta A, Brudvig J, Gotschall R, Weimer JM, Do HV. Selvan N, et al. Among authors: brudvig j. J Biol Chem. 2021 Jan-Jun;296:100769. doi: 10.1016/j.jbc.2021.100769. Epub 2021 May 8. J Biol Chem. 2021. PMID: 33971197 Free PMC article.
Neuronal Ceroid Lipofuscinosis Type 6 (CLN6) clinical findings and molecular diagnosis: Costa Rica's experience.
Badilla-Porras R, Echeverri-McCandless A, Weimer JM, Ulate-Campos A, Soto-Rodríguez A, Gutiérrez-Mata A, Hernández-Con L, Bogantes-Ledezma S, Balmaceda-Meza A, Brudvig J, Sanabria-Castro A. Badilla-Porras R, et al. Among authors: brudvig j. Orphanet J Rare Dis. 2022 Jan 10;17(1):13. doi: 10.1186/s13023-021-02162-z. Orphanet J Rare Dis. 2022. PMID: 35012600 Free PMC article.
33 results