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69 results

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A chemical chaperone improves muscle function in mice with a RyR1 mutation.
Lee CS, Hanna AD, Wang H, Dagnino-Acosta A, Joshi AD, Knoblauch M, Xia Y, Georgiou DK, Xu J, Long C, Amano H, Reynolds C, Dong K, Martin JC, Lagor WR, Rodney GG, Sahin E, Sewry C, Hamilton SL. Lee CS, et al. Among authors: lagor wr. Nat Commun. 2017 Mar 24;8:14659. doi: 10.1038/ncomms14659. Nat Commun. 2017. PMID: 28337975 Free PMC article.
LPA disruption with AAV-CRISPR potently lowers plasma apo(a) in transgenic mouse model: A proof-of-concept study.
Doerfler AM, Park SH, Assini JM, Youssef A, Saxena L, Yaseen AB, De Giorgi M, Chuecos M, Hurley AE, Li A, Marcovina SM, Bao G, Boffa MB, Koschinsky ML, Lagor WR. Doerfler AM, et al. Among authors: lagor wr. Mol Ther Methods Clin Dev. 2022 Oct 13;27:337-351. doi: 10.1016/j.omtm.2022.10.009. eCollection 2022 Dec 8. Mol Ther Methods Clin Dev. 2022. PMID: 36381302 Free PMC article.
Development and rescue of human familial hypercholesterolaemia in a xenograft mouse model.
Bissig-Choisat B, Wang L, Legras X, Saha PK, Chen L, Bell P, Pankowicz FP, Hill MC, Barzi M, Leyton CK, Leung HE, Kruse RL, Himes RW, Goss JA, Wilson JM, Chan L, Lagor WR, Bissig KD. Bissig-Choisat B, et al. Among authors: lagor wr. Nat Commun. 2015 Jun 17;6:7339. doi: 10.1038/ncomms8339. Nat Commun. 2015. PMID: 26081744 Free PMC article.
Speg interactions that regulate the stability of excitation-contraction coupling protein complexes in triads and dyads.
Lee CS, Jung SY, Yee RSZ, Agha NH, Hong J, Chang T, Babcock LW, Fleischman JD, Clayton B, Hanna AD, Ward CS, Lanza D, Hurley AE, Zhang P, Wehrens XHT, Lagor WR, Rodney GG, Hamilton SL. Lee CS, et al. Among authors: lagor wr. Commun Biol. 2023 Sep 14;6(1):942. doi: 10.1038/s42003-023-05330-y. Commun Biol. 2023. PMID: 37709832 Free PMC article.
Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy.
Palmer EE, Jarrett KE, Sachdev RK, Al Zahrani F, Hashem MO, Ibrahim N, Sampaio H, Kandula T, Macintosh R, Gupta R, Conlon DM, Billheimer JT, Rader DJ, Funato K, Walkey CJ, Lee CS, Loo C, Brammah S, Elakis G, Zhu Y, Buckley M, Kirk EP, Bye A, Alkuraya FS, Roscioli T, Lagor WR. Palmer EE, et al. Among authors: lagor wr. Hum Mol Genet. 2016 Jul 15;25(14):3042-3054. doi: 10.1093/hmg/ddw157. Epub 2016 Jun 6. Hum Mol Genet. 2016. PMID: 27270415 Free PMC article.
TFEB regulates murine liver cell fate during development and regeneration.
Pastore N, Huynh T, Herz NJ, Calcagni' A, Klisch TJ, Brunetti L, Kim KH, De Giorgi M, Hurley A, Carissimo A, Mutarelli M, Aleksieva N, D'Orsi L, Lagor WR, Moore DD, Settembre C, Finegold MJ, Forbes SJ, Ballabio A. Pastore N, et al. Among authors: lagor wr. Nat Commun. 2020 May 18;11(1):2461. doi: 10.1038/s41467-020-16300-x. Nat Commun. 2020. PMID: 32424153 Free PMC article.
69 results