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Gene & Protein in Disease                                        Oral-ERT in PD knockout mice with tobrhGAA



               doi: 10.1093/hmg/ddu476                            doi: 10.1074/jbc.M409676200
            133. Bourne  D.  A  First Course in Pharmacokinetics and   143. Zhu Y, Jiang JL, Gumlaw NK, et al. Glycoengineered acid
               Biopharmaceutics/Biopharmaceutics; 2010. Available from:   a-glucosidase with improved efficacy at correcting the
               https://www.boomer.org/c/p1 [last accessed on 2024 Dec 17].  metabolic aberrations and motor function deficits in  a
                                                                  mouse model of Pompe disease. Mol Ther. 2009;17:954-963.
            134. loannou Y, Zeidner K, Gordon R, Desnick R. Fabry
               disease: Preclinical studies demonstrate the effectiveness      doi: 10.1038/mt.2009.37
               of β-galactosidase a replacement in enzyme-deficient mice.   144. Zhou  Q,  Stefano  JE,  Harrahy  J,  et al.  Pan  Strategies  for
               Am J Hum Genet. 2001;68:14-25.                     neoglycan conjugation to human acid  a-glucosidase.

               doi: 10.1086/316953                                Bioconjug Chem. 2011;22:741-751.
            135. Schinkel A, Mayer U, Wagnenaar E, et al. Normal viability      doi: 10.1021/bc1005416
               and altered pharmacokinetics in mice lacking mdr1-type   145. Fukuda T, Ewan L, Bauer M, et al. Dysfunction of endocytic
               (drug-transporting) P-glycoproteins. Proc Natl Acad Sci U S   and autophagic pathways  in a lysosomal storage disease.
               A. 1997;94:4028-4033.                              Ann Neurol. 2006;59:700-708.
               doi: 10.1073/pnas.94.8.4028                        doi: 10.1002/ana.20807
            136. van  Tellingen  O,  Beijnen  J,  Verweij  J,  Scherrenburg  E,   146. Raben N, Schreiner C, Baum R,  et al. Suppression of
               Nooijen W, Sparreboom A. Rapid esterase-sensitive   autophagy permits successful enzyme replacement therapy
               breakdown of polysorbate 80 and its impact on the plasma   in a lysosomal storage disorder-murine Pompe disease.
               pharmacokinetics of docetaxel and metabolites in mice. Clin   Autophagy. 2010;6:1078-1089.
               Cancer Res. 1999;5:2918-2924.                      doi: 10.4161/auto.6.8.13378
            137. Maga JA, Zhou J, Kambampati R,  et al. Glycosylation-  147.  Lim JA, Li L, Shirihai OS, Trudeau KM, Rosa Puertollano  R,
               independent lysosomal targeting of acid  a-glucosidase   Raben N. Modulation of mTOR signaling as a strategy for the
               enhances muscle glycogen clearance in pompe mice. J Biol   treatment of Pompe disease. EMBO Mol Med. 2017;9:353-370.
               Chem. 2013;288:1428-1434.
                                                                  doi: 10.15252/emmm.201606547
               doi: 10.1074/jbc.M112.438663
                                                               148. Carroll B, Maetzel D, Maddocks OD, et al. Control of TSC2-
            138. Zhu Y, Li X, McVie-Wylie A, et al. Carbohydrate-remodelled   Rheb signaling axis by arginine regulates mTORC1 activity.
               acid  a-glucosidase with higher affinity for the cation-  Elife. 2016;5:e11058.
               independent mannose 6-phosphate receptor demonstrates
               improved delivery to muscles of Pompe mice.  Biochem J.      doi: 10.7554/eLife.11058
               2005;389:619-628.                               149. Jung JW, Kim NS, Jang SH, Shin YJ, Yang MS. Production
               doi: 10.1042/BJ20050364                            and characterization of recombinant human acid alpha-
                                                                  glucosidase in transgenic rice cell suspension culture.
            139. McVie-Wylie AJ, Lee KL, Qiu H,  et al. Biochemical and   J Biotechnol. 2016;226:44-53.
               pharmacological characterization of different recombinant
               acid a-glucosidase preparations evaluated for the treatment      doi: 10.1016/j.jbiotec.2016.03.031
               of Pompe disease. Mol Genet Metab. 2008;94:448-455.  150. Jung JW, Huy NX, Kim HB, Kim NS, Giap DV, Yanga MS.
                                                                  Production of recombinant human acid a-glucosidase with
               doi: 10.1016/j.ymgme.2008.04.009
                                                                  high-mannose glycans in gnt1 rice for the treatment of
            140. Tong PY, Kornfeld S. Ligand interactions of the cation-  Pompe disease. J Biotechnol. 2017;249:42-50.
               dependent mannose  6-phosphate  receptor.  Comparison      doi: 10.1016/j.jbiotec.2017.03.033
               with the cation-independent mannose 6-phosphate receptor.
               J Biol Chem. 1989;264:7970-7975.                151. Sariyatun R, Florence, Kajiura H, Ohashi T, Misaki R,
                                                                  Fujiyama K. Production of human acid-alpha glucosidase
            141. Diaz-Manera J,  Kishnani  PS,  Kushlaf  H,  et al.  Safety  and   with a paucimannose structure by glycoengineered
               efficacy of avalglucosidase alfa versus alglucosidase alfa   Arabidopsis cell culture. Front Plant Sci. 2021;12:703020.
               in patients with late-onset Pompe disease (COMET):
               A  phase 3, randomised, multicentre trial.  Lancet Neurol.      doi: 10.3389/fpls.2021.703020
               2021;20:1012-1026.                              152. Cohen JL, Chakraborty P, Fung-Kee-Fung K, et al. In utero
               doi: 10.1016/S1474-4422(21)00241-6                 enzyme-replacement therapy for infantile-onset  Pompe’s
                                                                  disease. N Engl J Med. 2022;387:2150-2158.
            142. Zhu  Y,  Li  X,  Kyazike  J,  et al.  Conjugation  of  mannose
               6-phosphate-containing  oligosaccharides  to  acid     doi: 10.1056/NEJMoa2200587
               a-glucosidase improves the clearance of glycogen in Pompe   153. van der Ploeg AT. Science behind the study-prenatal enzyme-
               mice. J Biol Chem. 2004;279:50336-50341.           replacement therapy. N Eng J Med. 2022;387:2189-2193.


            Volume 4 Issue 1 (2025)                         21                              doi: 10.36922/gpd.1760
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