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Base editing corrects the common Salla disease SLC17A5 c.115C>T variant.
Harb JF, Christensen CL, Kan SH, Rha AK, Andrade-Heckman P, Pollard L, Steet R, Huang JY, Wang RY. Harb JF, et al. Among authors: kan sh. Mol Ther Nucleic Acids. 2023 Aug 26;34:102022. doi: 10.1016/j.omtn.2023.08.024. eCollection 2023 Dec 12. Mol Ther Nucleic Acids. 2023. PMID: 37727271 Free PMC article.
Intra-articular enzyme replacement therapy with rhIDUA is safe, well-tolerated, and reduces articular GAG storage in the canine model of mucopolysaccharidosis type I.
Wang RY, Aminian A, McEntee MF, Kan SH, Simonaro CM, Lamanna WC, Lawrence R, Ellinwood NM, Guerra C, Le SQ, Dickson PI, Esko JD. Wang RY, et al. Among authors: kan sh. Mol Genet Metab. 2014 Aug;112(4):286-93. doi: 10.1016/j.ymgme.2014.05.015. Epub 2014 Jun 6. Mol Genet Metab. 2014. PMID: 24951454 Free PMC article.
Impaired mitophagy in Sanfilippo a mice causes hypertriglyceridemia and brown adipose tissue activation.
Tillo M, Lamanna WC, Dwyer CA, Sandoval DR, Pessentheiner AR, Al-Azzam N, Sarrazin S, Gonzales JC, Kan SH, Andreyev AY, Schultheis N, Thacker BE, Glass CA, Dickson PI, Wang RY, Selleck SB, Esko JD, Gordts PLSM. Tillo M, et al. Among authors: kan sh. J Biol Chem. 2022 Aug;298(8):102159. doi: 10.1016/j.jbc.2022.102159. Epub 2022 Jun 22. J Biol Chem. 2022. PMID: 35750212 Free PMC article.
Diffusion tensor imaging and myelin composition analysis reveal abnormal myelination in corpus callosum of canine mucopolysaccharidosis I.
Provenzale JM, Nestrasil I, Chen S, Kan SH, Le SQ, Jens JK, Snella EM, Vondrak KN, Yee JK, Vite CH, Elashoff D, Duan L, Wang RY, Ellinwood NM, Guzman MA, Shapiro EG, Dickson PI. Provenzale JM, et al. Among authors: kan sh. Exp Neurol. 2015 Nov;273:1-10. doi: 10.1016/j.expneurol.2015.07.021. Epub 2015 Jul 26. Exp Neurol. 2015. PMID: 26222335 Free PMC article.
48 results