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Adenovirus-mediated transfer of the acid alpha-glucosidase gene into fibroblasts, myoblasts and myotubes from patients with glycogen storage disease type II leads to high level expression of enzyme and corrects glycogen accumulation.
Nicolino MP, Puech JP, Kremer EJ, Reuser AJ, Mbebi C, Verdière-Sahuqué M, Kahn A, Poenaru L. Nicolino MP, et al. Among authors: puech jp. Hum Mol Genet. 1998 Oct;7(11):1695-702. doi: 10.1093/hmg/7.11.1695. Hum Mol Genet. 1998. PMID: 9736771
Rapid identification of HEXA mutations in Tay-Sachs patients.
Giraud C, Dussau J, Azouguene E, Feillet F, Puech JP, Caillaud C. Giraud C, et al. Among authors: puech jp. Biochem Biophys Res Commun. 2010 Feb 19;392(4):599-602. doi: 10.1016/j.bbrc.2010.01.088. Epub 2010 Jan 25. Biochem Biophys Res Commun. 2010. PMID: 20100466
A canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis.
Abitbol M, Thibaud JL, Olby NJ, Hitte C, Puech JP, Maurer M, Pilot-Storck F, Hédan B, Dréano S, Brahimi S, Delattre D, André C, Gray F, Delisle F, Caillaud C, Bernex F, Panthier JJ, Aubin-Houzelstein G, Blot S, Tiret L. Abitbol M, et al. Among authors: puech jp. Proc Natl Acad Sci U S A. 2010 Aug 17;107(33):14775-80. doi: 10.1073/pnas.0914206107. Epub 2010 Aug 2. Proc Natl Acad Sci U S A. 2010. PMID: 20679209 Free PMC article.
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