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Phenylbutyrate therapy for maple syrup urine disease.
Brunetti-Pierri N, Lanpher B, Erez A, Ananieva EA, Islam M, Marini JC, Sun Q, Yu C, Hegde M, Li J, Wynn RM, Chuang DT, Hutson S, Lee B. Brunetti-Pierri N, et al. Hum Mol Genet. 2011 Feb 15;20(4):631-40. doi: 10.1093/hmg/ddq507. Epub 2010 Nov 23. Hum Mol Genet. 2011. PMID: 21098507 Free PMC article. Clinical Trial.
Gene transfer of master autophagy regulator TFEB results in clearance of toxic protein and correction of hepatic disease in alpha-1-anti-trypsin deficiency.
Pastore N, Blomenkamp K, Annunziata F, Piccolo P, Mithbaokar P, Maria Sepe R, Vetrini F, Palmer D, Ng P, Polishchuk E, Iacobacci S, Polishchuk R, Teckman J, Ballabio A, Brunetti-Pierri N. Pastore N, et al. EMBO Mol Med. 2013 Mar;5(3):397-412. doi: 10.1002/emmm.201202046. Epub 2013 Feb 4. EMBO Mol Med. 2013. PMID: 23381957 Free PMC article.
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