Page 107 - GPD-4-1
P. 107
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

