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

Aviezer D. Plant-based oral delivery of β-glucocerebrosidase to heart muscle and corrects glycogen accumulation in
as an enzyme replacement therapy for Gaucher’s disease. fibroblasts from patients with Pompe disease. Proc Natl Acad
Plant Biotechnol J. 2015;13:1033-1040. Sci U S A. 1996;93:65-70.
doi: 10.1111/pbi.12366 doi: 10.1073/pnas.93.1.65
90. Martiniuk F, Reggi S, Tchou-Wong KM, Rom WN, 100. Fuller M, van der Ploeg A, Reuser AJJ, Anson DS,
Busconi M, Fogher C. Production of a functional human Hopwood JJ. Isolation and characterisation of a recombinant,
acid maltase in tobacco seeds: Biochemical analysis, uptake precursor form of lysosomal acid a-glucosidase. Eur J
by human GSDII cells, and in vivo studies in GAA knockout Biochem. 1995;234:903-909.
mice. Appl Biochem Biotechnol. 2013;171:916-926.
doi: 10.1111/j.1432-1033.1995.903_a.x
doi: 10.1007/s12010-013-0367-z
101. Hirschhorn R, Reuser AJJ. Glycogen Storage Disease Type 2
91. Martiniuk F, Chen A, Donnabella V, et al. Correction of Acid Alpha-Glucosidase Acid Maltase Deficiency. Ch. 135.
glycogen storage disease type II by enzyme replacement United States: Macgraw-Hill; 2001. p. 3389-3420.
with a recombinant human acid maltase produced by over-
expression in a CHO-DHFR (neg) cell line. Biochem Biophys 102. Chadalavada DM, Sivakami S. Purification and biochemical
Res Commun. 2000;276:917-923. characterisation of human placental acid a-glucosidase.
Biochem Mol Biol Int. 1997;42:1051-1061.
doi: 10.1006/bbrc.2000.3555
doi: 10.1080/15216549700203511
92. Horsch RB, Fry JE, Hoffmann NL, Eichholtz D, Roger SD,
Fraley RT. A simple 344 and general method for transferring 103. Bijvoet AGA, Kroos MA, Pieper FR, et al. Recombinant
genes into plants. Science. 1985;227:1229-1231. human acid a-glucosidase: High level production in
mouse milk, biochemical characteristics, correction of
doi: 10.1126/science.227.4691.1229 enzyme deficiency in GSDII KO mice. Hum Mol Genet.
93. Martiniuk F, Honig J, Hirschhorn R. Further studies of the 1998;7:1815-1824.
structure of human placental acid alpha-glucosidase. Arch doi: 10.1093/hmg/7.11.1815
Biochem Biophys. 1984;231:454-460.
104. van Diggelen OP, Oemardien LF, van der Beek NAME, et al.
doi: 10.1016/0003-9861(84)90408-9 Enzyme analysis for Pompe disease in leukocytes; superior
94. Paul M, Ma JKC. Plant-made pharmaceuticals: Leading results with natural substrate compared with artificial
products and production. Biotech Appl Biochem. substrates. J Inherit Metab Dis. 2009;32:416-423.
2011;58:58-67. doi: 10.1007/s10545-009-1082-3
doi: 10.1002/bab.6 105. Okumiya T, Keulemans JLM, Kroos MA, et al. A new
95. Dressman JB, Amidon GL, Reppas C, Shah VP. Dissolution diagnostic assay for glycogen storage disease type II in
testing as a prognostic tool for oral drug absorption: mixed leukocytes. Mol Genet Metab. 2006;88:22-28.
Immediate release dosage forms. Pharm Res. 1998;15:11-22. doi: 10.1016/j.ymgme.2005.10.016
doi: 10.1023/a:1011984216775 106. Porto C, Ferrara MC, Meli M, et al. Pharmacological
96. Martiniuk F, Hirschhorn R. Characterization of neutral enhancement of a-glucosidase by the allosteric chaperone
isozymes of human alpha-glucosidase. Biochim Biophys N-acetylcysteine. Mol Ther. 2012;20:2201-2211.
Acta. 1981;658:248-261. doi: 10.1038/mt.2012.152
doi: 10.1016/0005-2744(81)90295-3 107. Khanna R, Flanagan JJ, Feng J, et al. The pharmacological

97. Kakkis E, Lester T, Yang R, et al. Successful induction chaperone AT2220 increases recombinant human acid
of immune tolerance to enzyme replacement therapy in a-glucosidase uptake and glycogen reduction in a mouse
canine mucopolysaccharidosis I. Proc Natl Acad Sci U S A. model of Pompe disease. PLoS One. 2012;7:e40776.
2004;101:829-834. doi: 10.1371/journal.pone.0040776
doi: 10.1073/pnas.0305480101 108. Hintze S, Limmer S, Dabrowska-Schlepp P, et al. Moss-
98. White RR, Crawley FE, Vellini M, Rovati LA. Bioavailability derived human recombinant GAA provides an optimized
of 125I bromelain after oral administration to rats. Biopharm enzyme uptake in differentiated human muscle cells of
Drug Dispos. 1988;9:397-403. Pompe disease. Int J Mol Sci. 2020;21:2642-2657.
doi: 10.1002/bod.2510090408 doi: 10.3390/ijms21072642
99. van Hove JK, Yang HW, Wu JY, Brady RO, Chen YT. High- 109. Raben N, Nagaraju K, Lee E, et al. Targeted disruption of the
level production of recombinant human lysosomal acid acid alpha glucosidase gene in mice causes an illness with
a-glucosidase in Chinese hamster ovary cells which targets critical features of both infantile and adult human glycogen

Volume 4 Issue 1 (2025) 19 doi: 10.36922/gpd.1760