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In vivo base editing rescues Hutchinson-Gilford progeria syndrome in mice.
Koblan LW, Erdos MR, Wilson C, Cabral WA, Levy JM, Xiong ZM, Tavarez UL, Davison LM, Gete YG, Mao X, Newby GA, Doherty SP, Narisu N, Sheng Q, Krilow C, Lin CY, Gordon LB, Cao K, Collins FS, Brown JD, Liu DR. Koblan LW, et al. Among authors: cabral wa. Nature. 2021 Jan;589(7843):608-614. doi: 10.1038/s41586-020-03086-7. Epub 2021 Jan 6. Nature. 2021. PMID: 33408413 Free PMC article.
Evaluation of musculoskeletal phenotype of the G608G progeria mouse model with lonafarnib, pravastatin, and zoledronic acid as treatment groups.
Cubria MB, Suarez S, Masoudi A, Oftadeh R, Kamalapathy P, DuBose A, Erdos MR, Cabral WA, Karim L, Collins FS, Snyder BD, Nazarian A. Cubria MB, et al. Among authors: cabral wa. Proc Natl Acad Sci U S A. 2020 Jun 2;117(22):12029-12040. doi: 10.1073/pnas.1906713117. Epub 2020 May 13. Proc Natl Acad Sci U S A. 2020. PMID: 32404427 Free PMC article.
A targeted antisense therapeutic approach for Hutchinson-Gilford progeria syndrome.
Erdos MR, Cabral WA, Tavarez UL, Cao K, Gvozdenovic-Jeremic J, Narisu N, Zerfas PM, Crumley S, Boku Y, Hanson G, Mourich DV, Kole R, Eckhaus MA, Gordon LB, Collins FS. Erdos MR, et al. Among authors: cabral wa. Nat Med. 2021 Mar;27(3):536-545. doi: 10.1038/s41591-021-01274-0. Epub 2021 Mar 11. Nat Med. 2021. PMID: 33707773 Free PMC article.
Somatic activating mutations in MAP2K1 cause melorheostosis.
Kang H, Jha S, Deng Z, Fratzl-Zelman N, Cabral WA, Ivovic A, Meylan F, Hanson EP, Lange E, Katz J, Roschger P, Klaushofer K, Cowen EW, Siegel RM, Marini JC, Bhattacharyya T. Kang H, et al. Among authors: cabral wa. Nat Commun. 2018 Apr 11;9(1):1390. doi: 10.1038/s41467-018-03720-z. Nat Commun. 2018. PMID: 29643386 Free PMC article.
MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta.
Lindert U, Cabral WA, Ausavarat S, Tongkobpetch S, Ludin K, Barnes AM, Yeetong P, Weis M, Krabichler B, Srichomthong C, Makareeva EN, Janecke AR, Leikin S, Röthlisberger B, Rohrbach M, Kennerknecht I, Eyre DR, Suphapeetiporn K, Giunta C, Marini JC, Shotelersuk V. Lindert U, et al. Among authors: cabral wa. Nat Commun. 2016 Jul 6;7:11920. doi: 10.1038/ncomms11920. Nat Commun. 2016. PMID: 27380894 Free PMC article.
Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta.
Barnes AM, Chang W, Morello R, Cabral WA, Weis M, Eyre DR, Leikin S, Makareeva E, Kuznetsova N, Uveges TE, Ashok A, Flor AW, Mulvihill JJ, Wilson PL, Sundaram UT, Lee B, Marini JC. Barnes AM, et al. Among authors: cabral wa. N Engl J Med. 2006 Dec 28;355(26):2757-64. doi: 10.1056/NEJMoa063804. N Engl J Med. 2006. PMID: 17192541 Free PMC article.
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