Gene therapy for lysosomal storage diseases (LSDs) in large animal models

ILAR Journal

Volumn 50, Issue 2, 2009, Pages 112-121

  Haskins, Mark ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

Cat model; Dog model; Fucosidosis; Glycogen storage; Lysosomal storage disease; Mannosidosis; Mucopolysaccharidosis

Indexed keywords

ANIMALIA; CANIS FAMILIARIS;

ANIMAL; BONE MARROW TRANSPLANTATION; DISEASE MODEL; GENE THERAPY; GENE TRANSFER; GENETICS; LYSOSOME STORAGE DISEASE; METHODOLOGY; REVIEW;

ANIMALS; BONE MARROW TRANSPLANTATION; DISEASE MODELS, ANIMAL; GENE THERAPY; GENE TRANSFER TECHNIQUES; LYSOSOMAL STORAGE DISEASES;

EID: 66149133657     PISSN: 10842020     EISSN: None     Source Type: Journal    
DOI: 10.1093/ilar.50.2.112     Document Type: Review

References (125)

1. Baker HJ Jr, Lindsey JR, McKhann GM, Farrell DF. 1971. Neuronal GM1 gangliosidosis in a Siamese cat with beta-galactosidase deficiency. Science 174:838.
2. Barranger JM, Novelli EA. 2001. Gene therapy for lysosomal storage disorders. Expert Opin Biol Ther 1:857-867.
3. Barsoum SC, Milgram W, Mackay W, Coblentz C, Delaney KH, Kwiecien JM, Kruth SA, Chang PL. 2003. Delivery of recombinant gene product to canine brain with the use of microencapsulation. J Lab Clin Med 142:399-413.
4. Baskin GB, Ratterree M, Davison BB, Falkenstein KP, Clarke MR, England JD, Vanier MT, Luzi P, RafiMA, Wenger DA. 1998. Genetic galactocerebrosidase deficiency (globoid cell leukodystrophy, Krabbe disease) in rhesus monkeys (Macaca mulatta). Lab Anim Sci 48:476-482.
5. Beaty RM, Jackson M, Peterson D, Bird A, Brown T, Benjamin DK Jr, Juopperi T, Kishnani P, Boney A, Chen YT, Koeberl DD. 2002. Delivery of glucose-6-phosphatase in a canine model for glycogen storage disease, type 1a, with adeno-associated virus (AAV) vectors. Gene Ther 9:1015-1022.
6. Berg T, Tollersrud OK, Walkley SU, Siegel D, Nilssen O. 1997. Purification of feline lysosomal alpha-mannosidase, determination of its cDNA sequence and identification of a mutation causing alpha-mannosidosis in Persian cats. Biochem J 328:863-870.
7. Birkenmeier EH, Davisson MT, Beamer WG, Ganschow RE, Vogler CA, Gwynn B, Lyford KA, Maltais LM, Wawrzyniak CJ. 1989. Murine mucopolysaccharidosis type VII: Characterization of a mouse with beta-glucuronidase deficiency. J Clin Invest 83:1258-1256.
8. Bosshard NU, Hubler M, Arnold S, Briner J, Spycher MA, Sommerlade HJ, von Figura K, Gitzelmann R. 1996. Spontaneous mucolipidosis in a cat: An animal model of human I-cell disease. Vet Pathol 33:1-13.
9. Breunig F, Wanner C. 2008. Update on Fabry disease: Kidney involvement, renal progression and enzyme replacement therapy. J Nephrol 21:32-37.
10. Brix AE, Howerth EW, McConkie-Rosell A, Peterson D, Egnor D, Wells MR, Chen YT. 1995. Glycogen storage disease type 1a in two littermate Maltese puppies. Vet Pathol 32:460-465.
11. Brochstein JA. 1992. Bone marrow transplantation for genetic disorders. Oncology (Huntingt) 6:51-58.
12. Brooks DA, King BM, Crawley AC, Byers S, Hopwood JJ. 1997. Enzyme replacement therapy in mucopolysaccharidosis VI: Evidence for immune responses and altered efficacy of treatment in animal models. Biochim Biophys Acta 1361:203-216.
13. Byers S, Nuttall JD, Crawley AC, Hopwood JJ, Smith K, Fazzalari NL. 1997. Effect of enzyme replacement therapy on bone formation in a feline model of mucopolysaccharidosis type VI. Bone 21:425-431.
14. Byers S, Crawley AC, Brumfield LK, Nuttall JD, Hopwood JJ. 2000. Enzyme replacement therapy in a feline model of MPS VI: Modification of enzyme structure and dose frequency. Pediatr Res 47:743-749.
15. Cabrera-Salazar MA, Novelli E, Barranger JA. 2002. Gene therapy for the lysosomal storage disorders. Curr Opin Mol Ther 4:349-358.
16. Caillaud C, Poenaru L. 2000. Gene therapy in lysosomal diseases. Biomed Pharmacother 54:505-512.
17. Cheng SH, Smith AE. 2003. Gene therapy progress and prospects: Gene therapy of lysosomal storage disorders. Gene Ther 10:1275-1281.
18. Cherqui S, Sevin C, Hamard G, Kalatzis V, Sich M, Pequignot MO, Gogat K, Abitbol M, Broyer M, Gubler MC, Antignac C. 2002. Intralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosis. Mol Cell Biol 22:7622-7632.
19. Ciron C, Desmaris N, Colle MA, Raoul S, Joussemet B, Verot L, Ausseil J, Froissart R, Roux F, Cherel Y, Ferry N, Lajat Y, Schwartz B, Vanier MT, Maire I, Tardieu M, Moullier P, Heard JM. 2006. Gene therapy of the brain in the dog model of Hurler's syndrome. Ann Neurol 60:204-213.
20. Clarke LA. 2008. Idursulfase for the treatment of mucopolysaccharidosis II. Expert Opin Pharmacother 9:311-317.
21. Cohen-Tannoudji M, Marchand P, Akli S, Sheardown SA, Puech JP, Kress C, Gressens P, Nassogne MC, Beccari T, Muggleton-Harris AL. 1995. Disruption of murine hexa gene leads to enzymatic deficiency and to neuronal lysosomal storage, similar to that observed in Tay-Sachs disease. Mamm Genome 6:844-849.
22. Crawley AC, Brooks DA, Muller VJ, Petersen BA, Isaac EL, Bielicki J, King BM, Boulter CD, Moore AJ, Fazzalari NL, Anson DS, Byers S, Hopwood JJ. 1996. Enzyme replacement therapy in a feline model of Maroteaux-Lamy syndrome. J Clin Invest 97:1864-1873.
23. Dial SM, Byrne T, Haskins M, Gasper PW, Rose B, Wenger DA, Thrall MA. 1997. Urine glycosaminoglycan concentrations in mucopolysaccharidosis VI-affected cats following bone marrow transplantation or leukocyte infusion. Clin Chim Acta 263:1-14.
24. Distler J, Hieber V, Sahagian G, Schmickel R, Jourdian GW. 1979. Identification of mannose 6-phosphate in glycoproteins that inhibit the assimilation of beta-galactosidase by fibroblasts. Proc Natl Acad Sci U S A 76:4235-4239.
25. Eto Y, Ohashi T. 2002. Novel treatment for neuronopathic lysosomal storage diseases: Cell therapy/gene therapy. Curr Mol Med 2:83-89.
26. Fankhauser R, Luginbuhl H, Hartley WJ. 1963. Leukodystrophie vom typus Krabbe beim hund. Schweiz Arch Tierheilk 105:198-207.
27. Ferrara ML, Occhiodoro T, Fuller M, Hawthorne WJ, Teutsch S, Tucker VE, Hopwood JJ, Stewart GJ, Anson DS. 1997. Canine fucosidosis: A model for retroviral gene transfer into haematopoietic stem cells. Neuromuscul Disord 7:361-366.
28. Fratantoni JC, Hall CW, Neufeld EF. 1968. Hurler and Hunter syndromes: Mutual correction of the defect in cultured fibroblasts. Science 162:570-572.
29. Fyfe JC, Kurzhals RL, Lassaline ME, Henthorn PS, Alur PR, Wang P, Wolfe JH, Giger U, Haskins ME, Patterson DF, Sun H, Jain S, Yuhki N. 1999. Molecular basis of feline beta-glucuronidase deficiency: An animal model of mucopolysaccharidosis VII. Genomics 58:121-128.
30. Gieselmann V, Matzner U, Klein D, Mansson JE, D'Hooge R, DeDeyn PD, Lullmann Rauch R, Hartmann D, Harzer K. 2003. Gene therapy: Prospects for glycolipid storage diseases. Philos Trans R Soc Lond B Biol Sci 358:921-925.
31. Harmatz P, Giugliani R, Schwartz IV, Guffon N, Teles EL, Miranda MC, Wraith JE, Beck M, Arash L, Scarpa M, Ketteridge D, Hopwood JJ, Plecko B, Steiner R, Whitley CB, Kaplan P, Yu ZF, Swiedler SJ, Decker C. 2008. Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase. Mol Genet Metab 94:469-475.
32. Haskins M. 1996. Bone marrow transplantation therapy for metabolic disease: Animal models as predictors of success and in utero approaches. Bone Marrow Transpl 18 Suppl 3:S25-S27.
33. Haskins M, Abkowitz J, Aguirre G, Casal M, Evans S, Hasson C, Just C, Lexa F, Miranda S, Schuchman E, Simonaro C, Thrall MA, Wang P, Weil M, Weimelt S, Wolfe J, Patterson D 1977. Bone marrow transplantation in animal models of lysosomal storage diseases. In: Ringden O, Hobbs JR, Steward ACG, eds. Correction of Genetic Diseases by Transplantation IV. Middlesex UK: Cogent Press. p 1-11.
34. Haskins ME, Giger U. 2008. Lysosomal storage diseases. In: Kanenko JJ, Harvey JW, Bruss ML, eds. Clinical Biochemistry of Domestic Animals, 6th ed. New York: Academic Press. p 731-750.
35. Haskins ME, Jezyk PF, Patterson DF. 1979a. Mucopolysaccharide storage disease in three families of cats with arylsulfatase B deficiency: Leukocyte studies and carrier identification. Pediatr Res 13:1203-1210.
36. Haskins ME, Desnick RJ, DiFerrante N, Jezyk PF, Patterson DF. 1984. Beta-glucuronidase deficiency in a dog: A model of human mucopolysaccharidosis VII. Pediatr Res 18:980-984.
37. Haskins ME, Aguirre GD, Jezyk PF, Desnick RJ, Patterson DF. 1983. The pathology of the feline model of mucopolysaccharidosis I. Am J Pathol 112:27-36.
38. Haskins ME, Jezyk PF, Desnick RJ, McDonough SK, Patterson DF. 1979b. Alpha-L-iduronidase deficiency in a cat: A model of mucopolysaccharidosis I. Pediatr Res 13:1294-1297.
39. He X, Li CM, Simonaro CM, Wan Q, Haskins ME, Desnick RJ, Schuchman EH. 1999. Identification and characterization of the molecular lesion causing mucopolysaccharidosis type I in cats. Mol Genet Metab 67:106-112.
40. Healy PJ, Farrow BR, Nicholas FW, Hedberg K, Ratcliffe R. 1984. Canine fucosidosis: A biochemical and genetic investigation. Res Vet Sci 36:354-359.
41. Herati R, Knox VW, Ma X, O'Donnell P, D'Angelo M, Haskins M, Ponder KP. 2008. Radiographic evaluation of bones and joints in mucopolysaccharidosis I and VII dogs after neonatal gene therapy. Mol Genet Metab 95:142-151.
42. Ho TT, Maguire AM, Aguirre GD, Surace EM, Anand V, Zeng Y, Salvetti A, Hopwood JJ, Haskins ME, Bennett J. 2002. Phenotypic rescue after adeno-associated virus-mediated delivery of 4-sulfatase to the retinal pigment epithelium of feline mucopolysaccharidosis VI. J Gene Med 4:613-621.
43. Hoogerbrugge PM, Valerio D. 1998. Bone marrow transplantation and gene therapy for lysosomal storage diseases. Bone Marrow Transpl 21 Suppl 2:S34-S36.
44. Ioannou YA. 2000. Gene therapy for lysosomal storage disorders with neuropathology. J Am Soc Nephrol 11:1542-1547.
45. Jeyakumar M, Thomas R, Elliot-Smith E, Smith DA, van der Spoel AC, d'Azzo A, Perry VH, Butters TD, Dwek RA, Platt FM. 2003. Central nervous system inflammation is a hallmark of pathogenesis in mouse models of GM1 and GM2 gangliosidosis. Brain 126(Pt 4):974-987.
46. Jezyk PF, Haskins ME, Patterson DF, Mellman WJ, Greenstein M. 1977. Mucopolysaccharidosis in a cat with arylsulfatase B deficiency: A model of Maroteaux-Lamy syndrome. Science 198:834-836.
47. Jezyk PF, Haskins ME, Newman LR. 1986. Alpha-mannosidosis in a Persian cat. JAVMA 189:1483-1485.
48. Kakkis ED, McEntee MF, Schmidtchen A, Neufeld EF, Ward DA, Gompf RE, Kania S, Bedolla C, Chien SL, Shull RM. 1996. Long-term and high-dose trials of enzyme replacement therapy in the canine model of mucopolysaccharidosis I. Biochem Mol Med 58:156-167.
49. Kakkis ED, Schuchman E, He X, Wan Q, Kania S, Wiemelt S, Hasson CW, O'Malley T, Weil MA, Aguirre GA, Brown DE, Haskins ME. 2001. Enzyme replacement therapy in feline mucopolysaccharidosis I. Mol Genet Metab 72:199-208.
50. Kaplan A, Achord DT, Sly WS. 1977. Phosphohexosyl components of a lysosomal enzyme are recognized by pinocytosis receptors on human fibroblasts. Proc Natl Acad Sci U S A 74:2026-2030.
51. Kaye EM, Sena-Esteves M. 2002. Gene therapy for the central nervous system in the lysosomal storage disorders. Neurol Clin 20:879-901.
52. Kelly WR, Clague AE, Barns RJ, Bate MJ, MacKay BM. 1983. Canine alpha-L-fucosidosis: A storage disease of Springer spaniels. Acta Neuropathol 60:9-13.
53. Kikuchi T, Yang HW, Pennybacker M, Ichihara N, Mizutani M, Van Hove JLK, Chen YT. 1998. Clinical and metabolic correction of Pompe disease by enzyme therapy in acid maltase-deficient quail. J Clin Invest 101:827-833.
54. Kishnani PS, Bao Y, Wu JY, Brix AE, Lin JL, Chen YT. 1997. Isolation and nucleotide sequence of canine glucose-6-phosphatase mRNA: Identification of mutation in puppies with glycogen storage disease type 1a. Biochem Mol Med 61:168-177.
55. Kishnani PS, Faulkner E, VanCamp S, Jackson M, Brown T, Boney A, Koeberl D, Chen YT. 2001. Canine model and genomic structural organization of glycogen storage disease type 1a (GSD 1a). Vet Pathol 38:83-91.
56. Koeberl DD, Pinto C, Sun B, Li S, Kozink DM, Benjamin DK Jr, Demaster AK, Kruse MA, Vaughn V, Hillman S, Bird A, Jackson M, Brown T, Kishnani PS, Chen YT. 2008. AAV vector-mediated reversal of hypoglycemia in canine and murine glycogen storage disease type 1a. Mol Ther 16:665-672.
57. th ed. New York: McGraw-Hill.
58. Koskenvuo JW, Hartiala JJ, Nuutila P, Kalliokoski R, Viikari JS, Engblom E, Penttinen M, Knuuti J, Mononen I, Kantola IM. 2008. Twenty-four-month alpha-galactosidase A replacement therapy in Fabry disease has only minimal effects on symptoms and cardiovascular parameters. J Inherit Metab Dis 31:432-441.
59. Krivit W, Aubourg P, Shapiro E, Peters C. 1999. Bone marrow transplantation for globoid cell leukodystrophy, adrenoleukodystrophy, metachromatic leukodystrophy, and Hurler syndrome. Curr Opin Hematol 6:377-382.
60. Liu Y, Suzuki K, Reed JD, Grinberg A, Westphal H, Hoffmann A, Doring T, SandhofK, Proia RL. 1998. Mice with type 2 and 3 Gaucher disease point mutations generated by a single insertion mutagenesis procedure. Proc Natl Acad Sci U S A 95:2503-2508.
61. Liu Y, Xu L, Ellinwood NM, O'Malley T, Haskins ME, Ponder KP. 2003. Neonatal retroviral vector-mediated gene therapy for MPS I in mice and cats. Mol Ther 7:S77.
62. Lutzko C, Kruth S, Abrams-Ogg AC, Lau K, Li L, Clark BR, Ruedy C, Nanji S, Foster R, Kohn D, Shull R, Dube ID. 1999a. Genetically corrected autologous stem cells engraft, but host immune responses limit their utility in canine alpha-L-iduronidase deficiency. Blood 93:1895-1905.
63. Lutzko C, Omori F, Abrams-Ogg AC, Shull R, Li L, Lau K, Ruedy C, Nanji S, Gartley C, Dobson H, Foster R, Kruth S, Dube ID. 1999b. Gene therapy for canine alpha-L-iduronidase deficiency: In utero adoptive transfer of genetically corrected hematopoietic progenitors results in engraftment but not amelioration of disease. Hum Gene Ther 10:1521-1532.
64. Mango RL, Xu L, Sands MS, Vogler C, Seiler G, Schwarz T, Haskins ME, Ponder KP. 2004. Neonatal retroviral vector-mediated hepatic gene therapy reduces bone, joint, and cartilage disease in mucopolysaccharidosis VII mice and dogs. Mol Genet Metab 82:4-19.
65. Martin PL, Carter SL, Kernan NA, Sahdev I, Wall D, Pietryga D, Wagner JE, Kurtzberg J. 2006. Results of the cord blood transplantation study (COBLT): Outcomes of unrelated donor umbilical cord blood transplantation in pediatric patients with lysosomal and peroxisomal storage diseases. Biol Blood Marrow Tr 12:184-194.
66. Mazrier H, Van Hoeven M, Wang P, Knox VW, Aguirre GD, Holt E, Wiemelt SP, Sleeper MM, Hubler M, Haskins ME, Giger U. 2003. Inheritance, biochemical abnormalities, and clinical features of feline mucolipidosis II: The first animal model of human I-cell disease. J Hered 94:363-373.
67. McGowan JC, Haskins M, Wenger DA, Vite C. 2000. Investigating demyelination in the brain in a canine model of globoid cell leukodystrophy (Krabbe disease) using magnetization transfer contrast: Preliminary results. J Comput Assist Tomogr 24:316-321.
68. Menon KP, Tieu PT, Neufeld EF. 1992. Architecture of the canine IDUA gene and mutation underlying canine mucopolysaccharidosis I. Genomics 14:763-768.
69. Natowicz MR, Chi MM, Lowry OH, Sly WS. 1979. Enzymatic identification of mannose 6-phosphate on the recognition marker for receptor-mediated pinocytosis of beta-glucuronidase by human fibroblasts. Proc Natl Acad Sci U S A 76:4322-4326.
70. Neufeld EF, Fratantoni JC. 1970. Inborn errors of mucopolysaccharide metabolism. Science 169:141-146.
71. Norrdin RW, Moffat KS, Thrall MA, Gasper PW. 1993. Characterization of osteopenia in feline mucopolysaccharidosis VI and evaluation of bone marrow transplantation therapy. Bone 14:361-367.
72. Norrdin RW, Simske SJ, Gaarde S, Schwardt JD, Thrall MA. 1995. Bone changes in mucopolysaccharidosis VI in cats and the effects of bone marrow transplantation: Mechanical testing of long bones. Bone 17:485-489.
73. Ohmi K, Greenberg DS, Rajavel KS, Ryazantsev S, Li HH, Neufeld EF. 2003. Activated microglia in cortex of mouse models of mucopolysaccharidoses I and IIIB. Proc Natl Acad Sci U S A 100:1902-1907.
74. Ohshima T, Murray GJ, Swaim WD, Longenecker G, Quirk JM, Cardarelli CO, Sugimoto Y, Pastan I, Gottesman MM, Brady RO, Kulkarni AB. 1997. Alpha-galactosidase A deficient mice: A model of Fabry disease. Proc Natl Acad Sci U S A 94:2540-2544.
75. O'Marcaigh AS, Cowan MJ. 1997. Bone marrow transplantation for inherited diseases. Curr Opin Oncol 9:126-130.
76. Parini R, Rigoldi M, Santus F, Furlan F, De Lorenzo P, Valsecchi G, Concolino D, Strisciuglio P, Feriozzi S, Di Vito R, Ravaglia R, Ricci R, Morrone A.. 2008. Enzyme replacement therapy with agalsidase alfa in a cohort of Italian patients with Anderson-Fabry disease: Testing the effects with the Mainz severity score index. Clin Genet 74:260-266.
77. Phaneuf D, Wakamatsu N, Huang JQ, Borowski A, Peterson AC, Fortunato SR, Ritter G, Igdoura SA, Morales CR, Benoit G, Akerman BR, Leclerc D, Hanai N, Marth JD, Trasler JM, Gravel RA. 1996. Dramatically different phenotypes in mouse models of human Tay-Sachs and Sandhoff diseases. Hum Mol Genet 5:1-14.
78. Poenaru L. 2001. From gene transfer to gene therapy in lysosomal storage diseases affecting the central nervous system. Ann Med 33:28-36.
79. Ponder KP, Melniczek JR, Xu L, Weil MA, O'Malley TM, O'Donnell PA, Knox VW, Aguirre GD, Mazrier H, Ellinwood NM, Sleeper M, Maguire AM, Volk SW, Mango RL, Zweigle J, Wolfe JH, Haskins ME. 2002. Therapeutic neonatal hepatic gene therapy in mucopolysaccharidosis VII dogs. Proc Natl Acad Sci U S A 99:13102-13107.
80. Ponder KP, Wang B, Wang P, Ma X, Herati R, Wang B, Cullen K, O'Donnell P, Ellinwood NM, Traas A, Primeau TM, Haskins ME. 2006. Mucopolysaccharidosis I cats mount a cytotoxic T lymphocyte response after neonatal gene therapy that can be blocked with CTLA4-ig. Mol Ther 14:5-13.
81. Raben N, Danon M, Gilbert AL, Dwivedi S, Collins B, Thurberg BL, Mattaliano RJ, Nagaraju K, Plotz PH. 2003. Enzyme replacement therapy in the mouse model of Pompe disease. Mol Genet Metab 80:159-169.
82. Ray J, Bouvet A, DeSanto C, Fyfe JC, Xu D, Wolfe JH, Aguirre GD, Patterson DF, Haskins ME, Henthorn PS. 1998. Cloning of the canine beta-glucuronidase cDNA, mutation identification in canine MPS VII, and retroviral vector-mediated correction of MPS VII cells. Genomics 48:248-253.
83. Rohrbach M, Clarke JT. 2007. Treatment of lysosomal storage disorders: Progress with enzyme replacement therapy. Drugs 67:2697-2716.
84. Rossi M, Parenti G, Della Casa R, Romano A, Mansi G, Agovino T, Rosapepe F, Vosa C, Del Giudice E, Andria G. 2007. Long-term enzyme replacement therapy for Pompe disease with recombinant human alpha-glucosidase derived from Chinese hamster ovary cells. J Child Neurol 22:565-573.
85. Sammarco C, Weil M, Just C, Weimelt S, Hasson C, O'Malley T, Evans SM, Wang P, Casal ML, Wolfe J, Haskins M. 2000. Effects of bone marrow transplantation on the cardiovascular abnormalities in canine mucopolysaccharidosis VII. Bone Marrow Transpl 25:1289-1297.
86. Sands MS, Birkenmeier EH. 1993. A single-base-pair deletion in the beta-glucuronidase gene accounts for the phenotype of murine mucopolysaccharidosis type VII. Proc Natl Acad Sci U S A 90:6567-6571.
87. Sands MS, Vogler C, Kyle JW, Grubb JH, Levy B, Galvin N, Sly WS, Birkenmeier EH. 1994. Enzyme replacement therapy for murine mucopolysaccharidosis type VII. J Clin Invest 93:2324-2331.
88. Schultheiss PC, Gardner SA, Owens JM, Wenger DA, Thrall MA. 2000. Mucopolysaccharidosis VII in a cat. Vet Pathol 37:502-505.
89. Scriver CR, Beaudet AL, Sly WS, Valle D. 2001. Metabolic and Molecular Basis of Inherited Disease, 8th ed. New York: McGraw-Hill.
90. Shull RM, Helman RG, Spellacy E, Constantopoulos G, Munger RJ, Neufeld EF. 1984. Morphologic and biochemical studies of canine mucopolysaccharidosis I. Am J Pathol 114:487-495.
91. Shull R, Lu X, Dube I, Lutzko C, Kruth S, Abrams-Ogg A, Kiem HP, Goehle S, Schuening F, Millan C, Carter R. 1996. Humoral immune response limits gene therapy in canine MPS I. Blood 88:377-379.
92. Siegel DA, Walkley SU. 1994. Growth of ectopic dendrites on cortical pyramidal neurons in neuronal storage diseases correlates with abnormal accumulation of GM2 ganglioside. J Neurochem 62:1852-1862.
93. Simonaro CM, Haskins ME, Abkowitz JL, Brooks DA, Hopwood JJ, Zhang J, Schuchman EH. 1999. Autologous transplantation of retrovirally transduced bone marrow or neonatal blood cells into cats can lead to long-term engraftment in the absence of myeloablation. Gene Ther 6:107-113.
94. Simonaro CM, D'Angelo M, He X, Eliyahu E, Shtraizent N, Haskins ME, Schuchman EH. 2008. Mechanism of glycosaminoglycan-mediated bone and joint disease: Implications for the mucopolysaccharidoses and other connective tissue diseases. Am J Pathol 172:112-122.
95. Skelly BJ, Sargan DR, Herrtage ME, Winchester BG. 1996. The molecular defect underlying canine fucosidosis. J Med Genet 33:284-288.
96. Sleeper MM, Fornasari B, Ellinwood NM, Weil MA, Melniczek J, O'Malley TM, Sammaroc CD, Xu L, Ponder KP, Haskins ME. 2004. Gene therapy ameliorates cardiovascular disease in dogs with mucopolysaccharidosis VII. Circulation 110:815-820.
97. Sly WS, Quinton BA, McAlister WH, Rimoin DL. 1973. Beta glucuronidase deficiency: Report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis. J Pediatr 82:249-257.
98. Stoltzfus LJ, Sosa-Pineda B, Moskowitz SM, Menon KP, Dlott B, Hooper L, Teplow DB, Shull RM, Neufeld EF. 1992. Cloning and characterization of cDNA encoding canine alpha-L-iduronidase, mRNA deficiency in mucopolysaccharidosis I dog. J Biol Chem 267:6570-6575.
99. Suzuki K, Suzuki K. 1995. The twitcher mouse: A model for Krabbe disease and for experimental therapies. Brain Pathol 5:249-258.
100. Taylor RM, Farrow BR, Stewart GJ. 1992. Amelioration of clinical disease following bone marrow transplantation in fucosidase-deficient dogs. Am J Med Genet 42:628-632.
101. Tessitore A, Faella A, O'Malley T, Cotugno G, Doria M, Kunieda T, Matarese G, Haskins M, Auricchio A. 2008. Biochemical, pathological, and skeletal improvement of mucopolysaccharidosis VI after gene transfer to liver but not to muscle. Mol Ther 16:30-37.
102. Traas AM, Wang P, Ma X, Tittiger M, Schaller L, O'Donnell P, Sleeper MM, Vite C, Herati R, Aguirre GD, Haskins M, Ponder KP 2007. Correction of clinical manifestations of canine mucopolysaccharidosis I with neonatal retroviral vector gene therapy. Mol Ther 15:1423-1431.
103. Victoria T, Rafi MA, Wenger DA. 1996. Cloning of the canine GALC cDNA and identification of the mutation causing globoid cell leukodystrophy in West Highland white and Cairn terriers. Genomics 33:457-462.
104. Vite CH, McGowan JC, Braund KG, Drobatz KJ, Glickson JD, Wolfe JH, Haskins ME. 2001. Histopathology, electrodiagnostic testing, and magnetic resonance imaging show significant peripheral and central nervous system myelin abnormalities in the cat model of alpha-mannosidosis. J Neuropathol Exp Neurol 60:817-828.
105. Vite CH, McGowan JC, Niogi SN, Passini MA, Drobatz KJ, Haskins ME, Wolfe JH. 2005. Effective gene therapy for an inherited CNS disease in a large animal model. Ann Neurol 57:355-364.
106. Vogler C, Sands M, Higgins A, Levy B, Grubb J, Birkenmeier EH, Sly WS. 1993. Enzyme replacement with recombinant beta-glucuronidase in the newborn mucopolysaccharidosis type VII mouse. Pediatr Res 34:837-840.
107. Vogler C, Sands MS, Levy B, Galvin N, Birkenmeier EH, Sly WS. 1996. Enzyme replacement with recombinant beta-glucuronidase in murine mucopolysaccharidosis type VII: Impact of therapy during the first six weeks of life on subsequent lysosomal storage, growth, and survival. Pediatr Res 39:1050-1054.
108. Vogler C, Galvin N, Levy B, Grubb J, Jiang J, Zhou XY, Sly WS. 2003. Transgene produces massive overexpression of human beta-glucuronidase in mice, lysosomal storage of enzyme, and strain-dependent tumors. Proc Natl Acad Sci U S A 100:2669-2673.
109. Vogler C, Levy B, Grubb JH, Galvin N, Tan Y, Kakkis E, Pavlof N, Sly WS. 2005. Overcoming the blood-brain barrier with high-dose enzyme replacement therapy in murine mucopolysaccharidosis VII. Proc Natl Acad Sci U S A 102:14777-14782.
110. Walkley SU. 1987. Further studies on ectopic dendrite growth and other geometrical distortions of neurons in feline GM1 gangliosidosis. Neuroscience 21:313-331.
111. Walkley SU. 1998. Cellular pathology of lysosomal storage disorders. Brain Pathol 8:175-193.
112. Walkley SU, Baker HJ, Rattazzi MC. 1990. Initiation and growth of ectopic neurites and meganeurites during postnatal cortical development in ganglioside storage disease. Brain Res Dev Brain Res 51:167-178.
113. Walkley SU, Thrall MA, Dobrenis K, Huang M, March PA, Siegel DA, Wurzelmann S. 1994. Bone marrow transplantation corrects the enzyme defect in neurons of the central nervous system in a lysosomal storage disease. Proc Natl Acad Sci U S A 91:2970-2974.
114. Walkley SU, Siegel DA, Wurzelmann S. 1988. Ectopic dendritogenesis and associated synapse formation in swainsonine-induced neuronal storage disease. J Neurosci 8:445-457.
115. Walkley SU, Zervas M, Wiseman S. 2000. Gangliosides as modulators of dendritogenesis in normal and storage disease-affected pyramidal neurons. Cereb Cortex 10:1028-1037.
116. Walvoort HC, Slee RG, Koster JF. 1982. Canine glycogen storage disease type II: A biochemical study of an acid alpha-glucosidase-deficient Lapland dog. Biochim Biophys Acta 715:63-69.
117. Watson DJ, Wolfe JH. 2003. Lentiviral vectors for gene transfer to the central nervous system: Applications in lysosomal storage disease animal models. Methods Mol Med 76:383-403.
118. Wenger DA, Victoria T, RafiMA, Luzi P, Vanier MT, Vite C, Patterson DF, Haskins MH. 1999. Globoid cell leukodystrophy in Cairn and West Highland white terriers. J Hered 90:138-142.
119. Wraith JE. 2001. Enzyme replacement therapy in mucopolysaccharidosis type I: Progress and emerging difficulties. J Inherit Metab Dis 24:245-250.
120. Xu L, Haskins ME, Melniczek JR, Gao C, Weil MA, O'Malley TM, O'Donnell PA, Mazrier H, Ellinwood NM, Zweigle J, Wolfe JH, Ponder KP. 2002. Transduction of hepatocytes after neonatal delivery of a Moloney murine leukemia virus based retroviral vector results in long-term expression of beta-glucuronidase in mucopolysaccharidosis VII dogs. Mol Ther 5:141-153.
121. Xu YH, Quinn B, Witte D, Grabowski GA. 2003. Viable mouse models of acid beta-glucosidase deficiency: The defect in Gaucher disease. Am J Pathol 163:2093-2101.
122. Yang HW, Kikuchi T, Hagiwara Y, Mizutani M, Chen YT, Van Hove JL. 1998. Recombinant human acid alpha-glucosidase corrects acid alpha-glucosidase- deficient human fibroblasts, quail fibroblasts, and quail myoblasts. Pediatr Res 43:374-380.
123. Yew NS, Cheng SH. 2001. Gene therapy for lysosomal storage disorders. Curr Opin Mol Ther 3:399-406.
124. Yogalingam G, Litjens T, Bielicki J, Crawley AC, Muller V, Anson DS, Hopwood JJ. 1996. Feline mucopolysaccharidosis type VI: Characterization of recombinant N-acetylgalactosamine 4-sulfatase and identification of a mutation causing the disease. J Biol Chem 271:27259-27265.
125. Yogalingam G, Crawley A, Hopwood JJ, Anson DS. 1999. Evaluation of fibroblast-mediated gene therapy in a feline model of mucopolysaccharidosis type VI. Biochim Biophys Acta 1453:284-296.