Lysosomal Storage Diseases

Clinical Biochemistry of Domestic Animals, Sixth Edition

Volumn , Issue , 2008, Pages 731-749

  Haskins, Mark ^a   Giger, Urs ^a  

^a UNIVERSITY OF PENNSYLVANIA SCHOOL OF VETERINARY MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 74849087617     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1016/B978-0-12-370491-7.00024-6     Document Type: Chapter

References (251)

1. B. Abbitt, M.Z. Jones, T.R. Kasari, R.W. Storts, J.W. Templeton, P.S. Holland and P.E. Castenson (1991) Beta-mannosidosis in twelve Salers calves. J. Am. Vet. Med. Assoc. 198 109-113.
2. G. Aguirre, I. Raber, M. Yanoff and M. Haskins (1992) Reciprocal corneal transplantation fails to correct mucopolysaccharidosis VI corneal storage. Invest. Ophthalmol. Vis. Sci. 33 2702-2713.
3. A.J. Ahern-Rindell, R.D. Murnane and D.J. Prieur (1988) Beta-galactosidase activity in fibroblasts and tissues from sheep with a lysosomal storage disease. Biochem. Genet. 26 733-746.
4. A.J. Ahern-Rindell, R.D. Murnane and D.J. Prieur (1989) Interspecific genetic complementation analysis of human and sheep fibroblasts with beta-galactosidase deficiency. Somat. Cell. Mol. Genet. 15 525-533.
5. A.J. Ahern-Rindell, D.J. Prieur, R.D. Murnane, S.S. Raghavan, P.F. Daniel, R.H. McCluer, S.U. Walkley and S.M. Parish (1988) Inherited lysosomal storage disease associated with deficiencies of beta-galactosidase and alpha-neuraminidase in sheep. Am. J. Med. Genet. 31 39-56.
6. J. Alroy, M. Haskins and D.E. Birk (1999) Altered corneal stromal matrix organization is associated with mucopolysaccharidosis I, III and VI. Exp. Eye. Res. 68 523-530.
7. J. Alroy, U. Orgad, R. DeGasperi, R. Richard, C.D. Warren, K. Knowles, J.G. Thalhammer and S.S. Raghavan (1992) Canine GM1-gangliosidosis: a clinical, morphologic, histochemical, and biochemical comparison of two different models. Am. J. Pathol. 140 675-689.
8. J. Alroy, U. Orgad, A.A. Ucci, S.H. Schelling, K.L. Schunk, C.D. Warren, S.S. Raghavan and E.H. Kolodny (1985) Neurovisceral and skeletal GM1-gangliosidosis in dogs with beta-galactosidase deficiency. Science 229 470-472.
9. E.C. Appleby, J.A. Longstaffe and F.R. Bell (1982) Ceroid-lipofuscinosis in two Saluki dogs. J. Comp. Pathol. 92 375-380.
10. E.L. Aronovich, J.M. Johnston, P. Wang, U. Giger and C.B. Whitley (2001) Molecular basis of mucopolysaccharidosis type IIIB in emu (Dromaius novaehollandiae): an avian model of Sanfilippo syndrome type B. Genomics 74 299-305.
11. J. Austin, D. Armstrong and G. Margolis (1968) Studies of globoid leukodystrophy in dogs. Neurology 18 300.
12. T. Awano, M.L. Katz, D.P. O'Brien, I. Sohar, P. Lobel, J.R. Coates, S. Khan, G.C. Johnson, U. Giger and G.S. Johnson (2006) A frame shift mutation in canine TPP1 (the ortholog of human CLN2) in a juvenile Dachshund with neuronal ceroid lipofuscinosis. Mol. Genet. Metab. 89 254-260.
13. T. Awano, M.L. Katz, D.P. O'Brien, J.F. Taylor, J. Evans, S. Khan, I. Sohar, P. Lobel and G.S. Johnson (2006) A mutation in the cathepsin D gene (CTSD) in American Bulldogs with neuronal ceroid lipofuscinosis. Mol. Genet. Metab. 87 341-348.
14. H.J. Baker Jr., J.R. Lindsey, G.M. McKhann and D.F. Farrell (1971) Neuronal GM1 gangliosidosis in a Siamese cat with beta-galactosidase deficiency. Science 174 838-839.
15. H.J. Baker, J.A. Mole, J.R. Lindsey and R.M. Creel (1976) Animal models of human ganglioside storage diseases. Fed. Proc. 35 1193-1201.
16. Berman, L., Foureman, P., Stieger, K., Van Hoeven, M., Ellinwood, N. M., Henthorn, P. S., Thrall, M. A., Kirkness, E., Haskins, M. E., and Giger, U. (2004). Mucopolysaccharidosis type VI caused by a point mutation in the miniature pinscher and deletion in the miniature schnauzer. In: "2nd International Conference: Advances in Canine and Feline Genomics," p. 60. Utrecht, The Netherlands.
17. H. Bernheimer and E. Karbe (1970) [Morphological and neurochemical investigations of 2 types of amaurotic idiocy in the dog: evidence of a GM2-gangliosidosis]. Acta Neuropathol. (Berl.) 16 243-261.
18. M. Bhaumik, V.J. Muller, T. Rozaklis, L. Johnson, K. Dobrenis, R. Bhattacharyya, S. Wurzelmann, P. Finamore, J.J. Hopwood, S.U. Walkley and P. Stanley (1999) A mouse model for mucopolysaccharidosis type III A (Sanfilippo syndrome). Glycobiology 9 1389-1396.
19. E.H. Birkenmeier, M.T. Davisson, W.G. Beamer, R.E. Ganschow, C.A. Vogler, B. Gwynn, K.A. Lyford, L.M. Maltais and C.J. Wawrzyniak (1989) Murine mucopolysaccharidosis type VII: characterization of a mouse with beta-glucuronidase deficiency. J. Clin. Invest. 83 1256-1258.
20. W.F. Blakemore (1972) GM-1 gangliosidosis in a cat. J. Comp. Pathol, 82 179-185.
21. N.U. Bosshard, M. Hubler, S. Arnold, J. Briner, M.A. Spycher, H.J. Sommerlade, K. von Figura and R. Gitzelmann (1996) Spontaneous mucolipidosis in a cat: an animal model of human I-cell disease. Vet. Pathol. 33 1-13.
22. B.G. Boysen, L. Tryphonas and N.W. Harries (1974) Globoid cell leukodystrophy in the bluetick hound dog. I. Clinical manifestations. Can. Vet. J. 15 303-308.
23. J.A. Brochstein (1992) Bone marrow transplantation for genetic disorders. Oncology (Huntingt.) 6 51-58.
24. M.F. Broom, C. Zhou, J.E. Broom, K.J. Barwell, R.D. Jolly and D.F. Hill (1998) Ovine neuronal ceroid lipofuscinosis: a large animal model syntenic with the human neuronal ceroid lipofuscinosis variant CLN6. J. Med. Genet. 35 717-721.
25. L. Bryan, S. Schmutz, S.D. Hodges and F.F. Snyder (1993) Bovine beta-mannosidosis: pathologic and genetic findings in Salers calves. Vet. Pathol. 30 130-139.
26. A. Bundza, J.A. Lowden and K.M. Charlton (1979) Niemann-Pick disease in a poodle dog. Vet. Pathol. 16 530-538.
27. L.J. Burditt, K. Chotai, S. Hirani, P.G. Nugent, B.G. Winchester and W.F. Blakemore (1980) Biochemical studies on a case of feline mannosidosis. Biochem. J. 189 467-473.
28. M. Castagnaro (1990) Lectin histochemistry of the central nervous system in a case of feline alpha-mannosidosis. Res. Vet. Sci. 49 375-377.
29. D.Y. Cho, H.W. Leipold and R. Rudolph (1986) Neuronal ceroidosis (ceroid-lipofuscinosis) in a Blue Heeler dog. Acta Neuropathol. 69 161-164.
30. C.E. Chrisp, D.H. Ringler, G.D. Abrams, N.S. Radin and A. Brenkert (1970) Lipid storage disease in a Siamese cat. J. Am. Vet. Med. Assoc. 156 616-622.
31. R.W. Cook, R.D. Jolly, D.N. Palmer, I. Tammen, M.F. Broom and R. McKinnon (2002) Neuronal ceroid lipofuscinosis in Merino sheep. Aust. Vet. J. 80 292-297.
32. L.C. Cork, J.F. Munnell and M.D. Lorenz (1978) The pathology of feline GM2 gangliosidosis. Am. J. Pathol. 90 723-734.
33. L.C. Cork, J.F. Munnell, M.D. Lorenz, J.V. Murphy, H.J. Baker and M.C. Rattazzi (1977) GM2 ganglioside lysosomal storage disease in cats with beta-hexosaminidase deficiency. Science 196 1014-1017.
34. K.R. Cowell, P.F. Jezyk, M.E. Haskins and D.F. Patterson (1976) Mucopolysaccharidosis in a cat. J. Am. Vet. Med. Assoc. 169 334-339.
35. A.C. Crawley, M.Z. Jones, L.E. Bonning, J.W. Finnie and J.J. Hopwood (1999) Alpha-mannosidosis in the guinea pig: a new animal model for lysosomal storage disorders. Pediatr. Res. 46 501-509.
36. A.C. Crawley, G. Yogalingam, V.J. Muller and J.J. Hopwood (1998) Two mutations within a feline mucopolysaccharidosis type VI colony cause three different clinical phenotypes. J. Clin. Invest. 101 109-119.
37. J.F. Cummings, P.A. Wood, A. de Lahunta, S.U. Walkley and L. Le Boeuf (1988) The clinical and pathologic heterogeneity of feline alpha-mannosidosis. J. Vet. Intern. Med. 2 163-170.
38. J.F. Cummings, P.A. Wood, S.U. Walkley, A. de Lahunta and M.E. DeForest (1985) GM2 gangliosidosis in a Japanese spaniel. Acta Neuropathol. 67 247-253.
39. T.M. Daly, K.K. Ohlemiller, M.S. Roberts, C.A. Vogler and M.S. Sands (2001) Prevention of systemic clinical disease in MPS VII mice following AAV-mediated neonatal gene transfer. Gene Ther. 8 1291-1298.
40. T.M. Daly, C. Vogler, B. Levy, M.E. Haskins and M.S. Sands (1999) Neonatal gene transfer leads to widespread correction of pathology in a murine model of lysosomal storage disease. Proc. Natl. Acad. Sci. USA, 96 2296-2300.
41. P. Di Natale, T. Annella, A. Daniele, G. Spagnuolo, R. Cerundolo, D. de Caprariis and A.E. Gravino (1992) Animal models for lysosomal storage diseases: a new case of feline mucopolysaccharidosis VI. J. Inherit. Metab. Dis. 15 17-24.
42. T. Dierks, A. Dickmanns, A. Preusser-Kunze, B. Schmidt, M. Mariappan, K. von Figura, R. Ficner and M.G. Rudolph (2005) Molecular basis for multiple sulfatase deficiency and mechanism for formylglycine generation of the human formylglycine-generating enzyme. Cell 121 541-552.
43. J. Distler, V. Hieber, G. Sahagian, R. Schmickel and G.W. Jourdian (1979) Identification of mannose 6-phosphate in glycoproteins that inhibit the assimilation of beta-galactosidase by fibroblasts. Proc. Natl. Acad. Sci. USA, 76 4235-4239.
44. K. Dobrenis, D.A. Wenger and S.U. Walkley (1994) Extracellular release of lysosomal glycosidases in cultures of cat microglia. Molec. Biol. Cell, 5 113a.
45. W.J. Donnelly, B.J. Sheahan and M. Kelly (1973) Beta-galactosidase deficiency in GM1 gangliosidosis of Friesian calves. Res. Vet. Sci. 15 139-141.
46. W.J. Donnelly, B.J. Sheahan and T.A. Rogers (1973) GM1 gangliosidosis in Friesian calves. J. Pathol. 111 173-179.
47. L.W. Duchen, E.M. Eicher, J.M. Jacobs, F. Scaravilli and F. Teixeira (1980) Hereditary leucodystrophy in the mouse: the new mutant twitcher. Brain 103 695-710.
48. N.M. Ellinwood, P.S. Henthorn, U. Giger and M.E. Haskins (2002) Characterization of the normal cDNA for the canine N-acetyl-α-D-glucosaaminidase gene, the gene defective in mucopolysaccharidosis IIIB. Am. J. Hum. Genet. 71(suppl), 420.
49. N.M. Ellinwood, C.H. Vite and M.E. Haskins (2004) Gene therapy for lysosomal storage diseases: the lessons and promise of animal models. J. Gene. Med. 6 481-506.
50. N.M. Ellinwood, P. Wang, T. Skeen, N. Sharp, M. Cesta, W. Bush, E. Hardam, M.E. Haskins and U. Giger (2001) Characterization of a canine model of mucopolysaccharidosis IIIB. Am. J. Hum. Genet. 69 1760.
51. N.M. Ellinwood, P. Wang, T. Skeen, N.J. Sharp, M. Cesta, S. Decker, N.J. Edwards, I. Bublot, J.N. Thompson, W. Bush, E. Hardam, M.E. Haskins and U. Giger (2003) A model of mucopolysaccharidosis IIIB (Sanfilippo syndrome type IIIB): N-acetyl-alpha-D-glucosaminidase deficiency in Schipperke dogs. J. Inherit. Metab. Dis. 26 489-504.
52. D.H. Embury and I.V. Jerrett (1985) Mannosidosis in Galloway calves. Vet. Pathol. 22 548-551.
53. R. Fankhauser, H. Luginbuhl and W.J. Hartley (1963) Leukodystrophie vom Typus Krabbe beim Hund. Schweiz. Arch. Tierheilk. 105 198-207.
54. D.F. Farrell, H.J. Baker, R.M. Herndon, J.R. Lindsey and G.M. McKhann (1973) Feline GM 1 gangliosidosis: biochemical and ultrastructural comparisons with the disease in man. J. Neuropathol. Exp. Neurol. 32 1-18.
55. B.R. Farrow, W.J. Hartley, A.C. Pollard, D. Fabbro, G.A. Grabowski and R.J. Desnick (1982) Gaucher disease in the dog. Prog. Clin. Biol. Res. 95 645-653.
56. A. Fischer, K.P. Carmichael, J.F. Munnell, P. Jhabvala, J.N. Thompson, R. Matalon, P.F. Jezyk, P. Wang and U. Giger (1998) Sulfamidase deficiency in a family of dachshunds: a canine model of mucopolysaccharidosis IIIA (Sanfilippo A). Pediatr. Res. 44 74-82.
57. T.F. Fletcher and H.J. Kurtz (1972) Animal model: globoid cell leukodystrophy in the dog. Am. J. Pathol. 66 375-378.
58. T.F. Fletcher, H.J. Kurtz and D.G. Low (1966) Globoid cell leukodystrophy (Krabbe type) in the dog. J. Am. Vet. Med. Assoc. 149 165-172.
59. T.F. Fletcher, D.G. Lee and R.F. Hammer (1971) Ultrastructural features of globoid-cell leukodystrophy in the dog. Am. J. Vet. Res. 32 177-1781.
60. P. Foureman, L. Berman, K. Stieger, M. Van Hoeven, N.M. Ellinwood, M.E. Haskins, E. Kirkness and U. Giger (2004) Mucopolysaccharidosis type VI in miniature pinschers: screening for the mutation. J. Vet. Intern. Med. 18 408-409.
61. J. Fox, Y.T. Li, G. Dawson, A. Alleman, J. Johnsrude, J. Schumacher and B. Homer (1999) Naturally occurring GM2 gangliosidosis in two Muntjak deer with pathological and biochemical features of human classical Tay-Sachs disease (type B GM2 gangliosidosis). Acta Neuropathol. (Berl.) 97 57-62.
62. K. Friderici, K.T. Cavanagh, J.R. Leipprandt, C.E. Traviss, D.S. Anson, J.J. Hopwood and M.Z. Jones (1995) Cloning and sequence analysis of caprine N-acetylglucosamine 6-sulfatase cDNA. Biochim. Biophys. Acta, 1271 369-373.
63. S.C. Friend, S.C. Barr and D. Embury (1985) Fucosidosis in an English springer spaniel presenting as a malabsorption syndrome. Aust. Vet. J. 62 415-420.
64. T. Fujita, I. Nonaka and H. Sugita (1991) Japanese quail and human acid maltase deficiency: a comparative study. Brain Dev. 13 247-255.
65. J.C. Fyfe, R.L. Kurzhals, M.E. Lassaline, P.S. Henthorn, P.R. Alur, P. Wang, J.H. Wolfe, U. Giger, M.E. Haskins, D.F. Patterson, H. Sun, S. Jain and N. Yuhki (1999) Molecular basis of feline beta-glucuronidase deficiency: an animal model of mucopolysaccharidosis VII. Genomics 58 121-128.
66. L.A. Gambetti, A.M. Kelly and J.T. McGrath (1970) Biochemical studies in a canine gangliosidosis. J. Neuropath. Exp. Neurol. 29 137.
67. U. Giger and P.F. Jezyk (1992) Diagnosis of Inherited Diseases in Small Animals. Philadelphia: Saunders
68. U. Giger, H. Shivaprasad, P. Wang, P. Jezyk, D. Patterson and G. Bradley (1997) Mucopolysaccharidosis type IIIB (Sanfilippo B syndrome) in emus. Vet. Pathol. 34 473.
69. U. Giger, E. Tcherneva, J. Caverly, A. Seng, A.M. Huff, K. Cullen, M. Van Hoeven, H. Mazrier and M.E. Haskins (2006) A missense point mutation in N-acethylglucosamine-1-phosphotransferase causes mucolipidosis II in domestic shorthair cats. J. Vet. Intern. Med. 20 781.
70. R. Gitzelmann, N.U. Bosshard, A. Superti-Furga, M.A. Spycher, J. Briner, U. Wiesmann, H. Lutz and B. Litschi (1994) Feline mucopolysaccharidosis VII due to beta-glucuronidase deficiency. Vet. Pathol. 31 435-443.
71. H.H. Goebel, T. Bilzer, E. Dahme and F. Malkusch (1988) Morphological studies in canine (Dalmatian) neuronal ceroid-lipofuscinosis. Am. J. Med. Genet. Suppl. 5 127-139.
72. L.D. Griffin, W. Gong, L. Verot and S.H. Mellon (2004) Niemann-Pick type C disease involves disrupted neurosteroidogenesis and responds to allopregnanolone. Nat. Med. 10 704-711.
73. S. Hafner, T.E. Flynn, B.G. Harmon and J.E. Hill (2005) Neuronal ceroid-lipofuscinosis in a Holstein steer. J. Vet. Diagn. Invest. 17 194-197.
74. S. Handa and T. Yamakawa (1971) Biochemical studies in cat and human gangliosidosis. J. Neurochem. 18 1275-1280.
75. W.J. Hartley and W.F. Blakemore (1973) Neurovisceral glucocerebroside storage (Gaucher's disease) in a dog. Vet. Pathol. 10 191-201.
76. A. Hasilik, A. Waheed and K. von Figura (1981) Enzymatic phosphorylation of lysosomal enzymes in the presence of UDP-N-acetylglucosamine. Absence of the activity in I-cell fibroblasts. Biochem. Biophys. Res. Commun. 98 761-767.
77. M. Haskins (1996) Bone marrow transplantation therapy for metabolic disease: animal models as predictors of success and in utero approaches. Bone Marrow Transpl. 18 S25-sS27.
78. M. Haskins, M. Casal, N.M. Ellinwood, J. Melniczek, H. Mazrier and U. Giger (2002) Animal models for mucopolysaccharidoses and their clinical relevance. Acta Paediatr. Suppl. 91 88-97.
79. M.E. Haskins, H.J. Baker, E. Birkenmeier, P.M. Hoogerbrugge, B.J.H.M. Poorthuis, T. Sakiyama, R.M. Shull, R.M. Taylor, M.A. Thrall and S.U. Walkley (1991) Transplantation in animal model systems. R. Desnick (Eds) Treatment of Genetic Diseases New York: Churchill Livingstone 183-201.
80. M.E. Haskins, R.J. Desnick, N. DiFerrante, P.F. Jezyk and D.F. Patterson (1984) Beta-glucuronidase deficiency in a dog: a model of human mucopolysaccharidosis VII. Pediatr. Res. 18 980-984.
81. M.E. Haskins, P.F. Jezyk, R.J. Desnick, S.K. McDonough and D.F. Patterson (1979) Alpha-L-iduronidase deficiency in a cat: a model of mucopolysaccharidosis I. Pediatr. Res. 13 1294-1297.
82. M.E. Haskins, P.F. Jezyk, R.J. Desnick, S.K. McDonough and D.F. Patterson (1979) Mucopolysaccharidosis in a domestic short-haired cat: a disease distinct from that seen in the Siamese cat. J. Am. Vet. Med. Assoc. 175 384-387.
83. M.E. Haskins, P.F. Jezyk, R.J. Desnick and D.F. Patterson (1981) Animal model of human disease: mucopolysaccharidosis VI Maroteaux-Lamy syndrome, arylsulfatase B-deficient mucopolysaccharidosis in the Siamese cat. Am. J. Pathol. 105 191-193.
84. M.E. Haskins, P.F. Jezyk and D.F. Patterson (1979) Mucopolysaccharide storage disease in three families of cats with arylsulfatase B deficiency: leukocyte studies and carrier identification. Pediatr. Res. 13 1203-1210.
85. M.E. Haskins and J.T. McGrath (1983) Meningiomas in young cats with mucopolysaccharidosis I. J. Neuropathol. Exp. Neurol. 42 664-670.
86. P.J. Healy, B.R. Farrow, F.W. Nicholas, K. Hedberg and R. Ratcliffe (1984) Canine fucosidosis: a biochemical and genetic investigation. Res. Vet. Sci, 36 354-359.
87. P.J. Healy, G.N. Kidd, R.E. Reuter, C. Bunce, I. Hosie and T. Stapleton (1992) Beta-mannosidosis in Salers calves in Australia. Aust. Vet. J. 69 145.
88. S. Hickman and E.F. Neufeld (1972) A hypothesis for I-cell disease: defective hydrolases that do not enter lysosomes. Biochem. Biophys. Res. Commun. 49 992-999.
89. I. Higuchi, I. Nonaka, F. Usuki, S. Ishiura and H. Sugita (1987) Acid maltase deficiency in the Japanese quail; early morphological event in skeletal muscle. Acta Neuropathol. 73 32-37.
90. R.S. Hirth and S.W. Nielsen (1967) A familial canine globoid cell leukodystrophy ("Krabbe type"). J. Small Anim. Pract. 8 569-575.
91. J.D. Hocking, R.D. Jolly and R.D. Batt (1972) Deficiency of -mannosidase in Angus cattle: an inherited lysosomal storage disease. Biochem. J. 128 69-78.
92. E.W. Holmes and J.S. O'Brien (1978) Feline GM1 gangliosidosis: characterization of the residual liver acid beta-galactosidase. Am. J. Hum. Genet. 30 505-515.
93. E.W. Holmes and J.S. O'Brien (1978) Hepatic storage of oligosaccharides and glycolipids in a cat affected with GM1 gangliosidosis. Biochem. J. 175 945-953.
94. E. Holtzman (1989) Historical fragments; methods; source terminology. P. Siekevitz (Eds) Lysosomes New York: Plenum Press 1-24.
95. P.M. Hoogerbrugge and D. Valerio (1998) Bone marrow transplantation and gene therapy for lysosomal storage diseases. Bone Marrow Transplant. 21(suppl 2), S34-sS36.
96. J.M. Howell, P.R. Dorling, R.D. Cook, W.F. Robinson, S. Bradley and J.M. Gawthorne (1981) Infantile and late onset form of generalised glycogenosis type II in cattle. J. Pathol. 134 267-277.
97. J.M. Howell and A.C. Palmer (1971) Globoid cell leucodystrophy in two dogs. J. Small. Anim. Pract. 12 633-642.
98. M. Hubler, M.E. Haskins, S. Arnold, B. Kaser-Hotz, N.U. Bosshard, J. Briner, M.A. Spycher, R. Gitzelmann, H.J. Sommerlade and K. von Figura (1996) Mucolipidosis type II in a domestic shorthair cat. J. Small. Anim. Pract. 37 435-441.
99. Y.A. Ioannou (2000) Gene therapy for lysosomal storage disorders with neuropathology. J. Am. Soc. Nephrol. 11 1542-1547.
100. Y. Ishikawa, S.C. Li, P.A. Wood and Y.T. Li (1987) Biochemical basis of type AB GM2 gangliosidosis in a Japanese spaniel. J. Neurochem. 48 860-864.
101. P.F. Jezyk, M.E. Haskins and L.R. Newman (1986) Alpha-mannosidosis in a Persian cat. J. Am. Vet. Med. Assoc. 189 1483-1485.
102. P.F. Jezyk, M.E. Haskins and D.F. Patterson (1982) Screening for inborn errors of metabolism in dogs and cats. Prog. Clin. Biol. Res. 94 93-116.
103. P.F. Jezyk, M.E. Haskins, D.F. Patterson, W.J. Mellman and M. Greenstein (1977) Mucopolysaccharidosis in a cat with arylsulfatase B deficiency: a model of Maroteaux-Lamy syndrome. Science 198 834-836.
104. G.R. Johnson, J.E. Oliver Jr. and R. Selcer (1975) Globoid cell leukodystrophy in a beagle. J. Am. Vet. Med. Assoc. 167 380-384.
105. K.H. Johnson (1970) Globoid leukodystrophy in the cat. J. Am. Vet. Med. Assoc. 157 2057-2064.
106. R.D. Jolly (1971) The pathology of the central nervous system in pseudolipidosis of Angus calves. J. Pathol. 103 113-121.
107. R.D. Jolly (1974) Animal model of human disease: mannosidosis of children, other inherited lysosomal storage diseases. Am. J. Pathol. 74 211-214.
108. R.D. Jolly (1975) Mannosidosis of Angus cattle: a prototype control program for some genetic diseases. Adv. Vet. Sci. Comp. Med. 19 1-21.
109. R.D. Jolly (1978) Mannosidosis and its control in Angus and Murray Grey cattle. N. Z. Vet. J. 26 194-198.
110. R.D. Jolly, F.J. Allan, M.G. Collett, T. Rozaklis, V.J. Muller and J.J. Hopwood (2000) Mucopolysaccharidosis IIIA (Sanfilippo syndrome) in a New Zealand Huntaway dog with ataxia. N. Z. Vet. J. 48 144-148.
111. R.D. Jolly, J.G. Digby and C.G. Rammell (1974) A mass screening programme of Angus cattle for the mannosidosis genotype: a prototype programme for control of inherited diseases in animals. N. Z. Vet. J. 22 218-222.
112. R.D. Jolly, R.H. Sutton, R.I. Smith and D.N. Palmer (1997) Ceroid-lipofuscinosis in miniature Schnauzer dogs. Aust. Vet. J. 75 67.
113. R.D. Jolly, C.A. Tse and R.M. Greenway (1973) Plasma mannosidase activity as a means of detecting mannosidosis heterozygotes. N. Z. Vet. J. 21 64-69.
114. R.D. Jolly, N.S. Van-de-Water, R.B. Richards and P.R. Dorling (1977) Generalized glycogenosis in beef shorthorn cattle: heterozygote detection. Aust. J. Exp. Biol. Med. Sci. 55 14U-u50U.
115. M.Z. Jones, J. Alroy, P.J. Boyer, K.T. Cavanagh, K. Johnson, D. Gage, J. Vorro, J.A. Render, R.S. Common, R.A. Leedle, C. Lowrie, P. Sharp, S.S. Liour, B. Levene, H. Hoard, R. Lucas and J.J. Hopwood (1998) Caprine mucopolysaccharidosis-IIID: clinical, biochemical, morphological and immunohistochemical characteristics. J. Neuropathol. Exp. Neurol. 57 148-157.
116. M.Z. Jones, J.G. Cunningham, A.W. Dade, D.M. Alessi, U.V. Mostosky, J.R. Vorro, J.T. Benitez and K.L. Lovell (1983) Caprine beta-mannosidosis: clinical and pathological features. J. Neuropathol. Exp. Neurol. 42 268-285.
117. M.Z. Jones and G. Dawson (1981) Caprine beta-mannosidosis: inherited deficiency of beta-D-mannosidase. J. Biol. Chem. 256 5185-5188.
118. B.S. Jortner and A.M. Jonas (1968) The neuropathology of globoid-cell leucodystrophy in the dog. A report of two cases. Acta Neuropathol. (Berl.) 10 171-182.
119. E.D. Kakkis, M.F. McEntee, A. Schmidtchen, E.F. Neufeld, D.A. Ward, R.E. Gompf, S. Kania, C. Bedolla, S.L. Chien and R.M. Shull (1996) Long-term and high-dose trials of enzyme replacement therapy in the canine model of mucopolysaccharidosis I. Biochem. Mol. Med. 58 156-167.
120. E.D. Kakkis, E. Schuchman, X. He, Q. Wan, S. Kania, S. Wiemelt, C.W. Hasson, T. O'Malley, M.A. Weil, G.A. Aguirre, D.E. Brown and M.E. Haskins (2001) Enzyme replacement therapy in feline mucopolysaccharidosis I. Mol. Genet. Metab. 72 199-208.
121. A. Kaplan, D. Fischer, D. Achord and W. Sly (1977) Phosphohexosyl recognition is a general characteristic of pinocytosis of lysosomal glycosidases by human fibroblasts. J. Clin. Invest. 60 1088-1093.
122. E. Karbe (1973) Animal model of human disease Gm2-gangliosidoses (amaurotic idiocies) types I, II, and III. Am. J. Pathol. 71 151-154.
123. E. Karbe and B. Schiefer (1967) Familial amaurotic idiocy in male German shorthair pointers. Pathol. Vet. 4 223-232.
124. M.L. Katz, S. Khan, T. Awano, S.A. Shahid, A.N. Siakotos and G.S. Johnson (2005) A mutation in the CLN8 gene in English setter dogs with neuronal ceroid-lipofuscinosis. Biochem. Biophys. Res. Commun. 327 541-547.
125. E.M. Kaye, J. Alroy, S.S. Raghavan, G.A. Schwarting, L.S. Adelman, V. Runge, D. Gelblum, J.G. Thalhammer and G. Zuniga (1992) Dysmyelinogenesis in animal model of GM1 gangliosidosis. Pediatr. Neurol. 8 255-261.
126. W.R. Kelly, A.E. Clague, R.J. Barns, M.J. Bate and B.M. MacKay (1983) Canine alpha-L-fucosidosis: a storage disease of springer spaniels. Acta Neuropathol. 60 9-13.
127. J.A. Kint, G. Dacremont, D. Carton, E. Orye and C. Hooft (1973) Mucopolysaccharidosis: secondarily induced abnormal distribution of lysosomal isoenzymes. Science 181 352-354.
128. T. Kobayashi, T. Yamanaka, J.M. Jacobs, F. Teixeira and K. Suzuki (1980) The Twitcher mouse: an enzymatically authentic model of human globoid cell leukodystrophy (Krabbe disease). Brain. Res. 202 479-483.
129. Kolodny, E. H., Zeng, B., Viner, T. C., Torres, P. A., Wang, Z. H., and Raghavan, S. S. (2006). Spontaneous appearance of Tay-Sachs disease in American flamingo birds. In "6th International Symposium on Lysosomal Storage Diseases," p. G9. Stockholm, Sweden.
130. R.G. Korneluk, D.J. Mahuran, K. Neote, M.H. Klavins, B.F. O'Dowd, M. Tropak, H.F. Willard, M.J. Anderson, J.A. Lowden and R.A. Gravel (1986) Isolation of cDNA clones coding for the alpha-subunit of human beta-hexosaminidase: extensive homology between the alpha- and beta-subunits and studies on Tay-Sachs disease. J. Biol. Chem. 261 8407-8413.
131. S. Kornfeld (1987) Trafficking of lysosomal enzymes. Faseb. J. 1 462-468.
132. S. Kornfeld and W. Sly (2001) I-cell disease and pseudo-hurler polydystrophy: disorders of lysosomal enzyme phosphorylation and localization. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds) The Metabolic & Molecular Bases of Inherited Disease New York: McGraw-Hill 3469-3482.
133. S.D. Kosanke, K.R. Pierce and W.W. Bay (1978) Clinical and biochemical abnormalities in porcine GM2-gangliosidosis. Vet. Pathol. 15 685-699.
134. S.D. Kosanke, K.R. Pierce and W.K. Read (1979) Morphogenesis of light and electron microscopic lesions in porcine GM2-gangliosidosis. Vet. Pathol. 16 6-17.
135. W. Krivit, P. Aubourg, E. Shapiro and C. Peters (1999) Bone marrow transplantation for globoid cell leukodystrophy, adrenoleukodystrophy, metachromatic leukodystrophy, and Hurler syndrome. Curr. Opin. Hematol. 6 377-382.
136. M. Kudo, M.S. Brem and W.M. Canfield (2006) Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha/beta-subunits precursor gene. Am. J. Hum. Genet. 78 451-463.
137. K. Kumar, M.Z. Jones, J.G. Cunningham, J.A. Kelley and K.L. Lovell (1986) Caprine beta-mannosidosis: phenotypic features. Vet. Rec. 118 325-327.
138. L. Laws and J.R. Saal (1968) Lipidosis of the hepatic reticuloendothelial cells in a sheep. Aust. Vet. J, 44 416-417.
139. S.K. Loftus, J.A. Morris, E.D. Carstea, J.Z. Gu, C. Cummings, A. Brown, J. Ellison, K. Ohno, M.A. Rosenfeld, D.A. Tagle, P.G. Pentchev and W.J. Pavan (1997) Murine model of Niemann-Pick C disease: mutation in a cholesterol homeostasis gene. Science 277 232-235.
140. K.L. Lovell and M.Z. Jones (1983) Distribution of central nervous system lesions in beta-mannosidosis. Acta Neuropathol. 62 121-126.
141. P. Luzi, M.A. Rafi, T. Victoria, G.B. Baskin and D.A. Wenger (1997) Characterization of the rhesus monkey galactocerebrosidase (GALC) cDNA and gene and identification of the mutation causing globoid cell leukodystrophy (Krabbe disease) in this primate. Genomics 42 319-324.
142. T. Maenhout, J.A. Kint, G. Dacremont, R. Ducatelle, J.G. Leroy and J.K. Hoorens (1988) Mannosidosis in a litter of Persian cats. Vet. Rec. 122 351-354.
143. B.W. Manktelow and W.J. Hartley (1975) Generalized glycogen storage disease in sheep. J. Comp. Pathol. 85 139-145.
144. D.R. Martin, B.K. Krum, G.S. Varadarajan, T.L. Hathcock, B.F. Smith and H.J. Baker (2004) An inversion of 25 base pairs causes feline GM2 gangliosidosis variant. Exp. Neurol. 187 30-37.
145. J.J. Martin, J.G. Leroy, J.P. Farriaux, G. Fontaine, R.J. Desnick and A. Cabello (1975) I-cell disease (mucolipidosis II): a report on its pathology. Acta Neuropathol. (Berl.) 33 285-305.
146. J.J. Martin, J.G. Leroy, M. van Eygen and C. Ceuterick (1984) I-cell disease: a further report on its pathology. Acta Neuropathol. 64 234-242.
147. H. Mazrier, M. Van Hoeven, P. Wang, V.W. Knox, G.D. Aguirre, E. Holt, S.P. Wiemelt, M.M. Sleeper, M. Hubler, M.E. Haskins and U. Giger (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.
148. J.T. McGrath, A.M. Kelly and S.A. Steinberg (1968) Cerebral lipidosis in the dog. J. Neuropathol. Exp. Neurol. 27 141.
149. S. Mellon, W. Gong and L.D. Griffin (2004) Niemann Pick type C disease as a model for defects in neurosteroidogenesis. Endocr. Res. 30 727-735.
150. S.A. Melville, C.L. Wilson, C.S. Chiang, V.P. Studdert, F. Lingaas and A.N. Wilton (2005) A mutation in canine CLN5 causes neuronal ceroid lipofuscinosis in border collie dogs. Genomics 86 287-294.
151. K.P. Menon, P.T. Tieu and E.F. Neufeld (1992) Architecture of the canine IDUA gene and mutation underlying canine mucopolysaccharidosis I. Genomics 14 763-768.
152. L. Minatel, S.C. Underwood and J.C. Carfagnini (2000) Ceroidlipofuscinosis in a cocker spaniel dog. Vet. Pathol. 37 488-490.
153. I.E. Mostafa (1970) A case of glycogenic cardiomegaly in a dog. Acta Vet. Scand. 11 197-208.
154. L.L. Muldoon, E.A. Neuwelt, M.A. Pagel and D.L. Weiss (1994) Characterization of the molecular defect in a feline model for type II GM2-gangliosidosis (Sandhoff disease). Am. J. Pathol. 144 1109-1118.
155. R.D. Murnane, W.J. Hartley and D.J. Prieur (1991) Similarity of lectin histochemistry of a lysosomal storage disease in a New Zealand lamb to that of ovine GM1 gangliosidosis. Vet. Pathol. 28 332-335.
156. R.D. Murnane, D.J. Prieur, A.J. Ahern-Rindell, L.D. Holler and S.M. Parish (1994) Clinical and clinicopathologic characteristics of ovine GM-1 gangliosidosis. J. Vet. Intern. Med. 8 221-223.
157. R.D. Murnane, R.W. Wright Jr., A.J. Ahern-Rindell and D.J. Prieur (1991) Prenatal lesions in an ovine fetus with GM1 gangliosidosis. Am. J. Med. Genet. 39 106-111.
158. R. Myerowitz and N.D. Hogikyan (1986) Different mutations in Ashkenazi Jewish and non-Jewish French Canadians with Tay-Sachs disease. Science 232 1646-1648.
159. R. Myerowitz and N.D. Hogikyan (1987) A deletion involving Alu sequences in the beta-hexosaminidase alpha-chain gene of French Canadians with Tay-Sachs disease. J. Biol. Chem. 262 15396-15399.
160. R. Myerowitz and R.L. Proia (1984) cDNA clone for the alpha-chain of human beta-hexosaminidase: deficiency of alpha-chain mRNA in Ashkenazi Tay-Sachs fibroblasts. Proc. Natl. Acad. Sci. USA, 81 5394-5398.
161. K. Nagashima, K. Sakakibara, H. Endo, Y. Konishi, N. Nakamura, Y. Suzuki and T. Abe (1977) I-cell disease (mucolipidosis 11): pathological and biochemical studies of an autopsy case. Acta Pathol. Jpn. 27 251-264.
162. K. Narfstrom and A. Wrigstad (1995) Clinical, electrophysiological, and morphological findings in a case of neuronal ceroid lipofuscinosis in the Polish Owczarek Nizinny (PON) dog. Vet. Q. 17(suppl 1), S46.
163. M.R. Natowicz, M.M. Chi, O.H. Lowry and W.S. Sly (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. USA, 76 4322-4326.
164. T.M. Neer, S.M. Dial, R. Pechman, P. Wang and U. Giger (1992) Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) in a miniature pinscher. J. Vet. Intern. Med. 6 124.
165. T.M. Neer, S.M. Dial, R. Pechman, P. Wang, J.L. Oliver and U. Giger (1995) Clinical vignette: mucopolysaccharidosis VI in a miniature pinscher. J. Vet. Intern. Med. 9 429-433.
166. E.B. Neufeld and J. Muenzer (1995) The mucopolysaccharidoses. C.R. Scriver, A.L. Beaudet, W. Sly, D. Valle (Eds) The Metabolic and Molecular Bases of Inherited Disease vol. 7 New York: McGraw-Hill 2467.
167. E.F. Neufeld and J. Meunzer (2001) The mucopolysaccharidoses. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds) Metabolic and Molecular Basis of Inherited Disease New York: McGraw Hill 3421-3452.
168. E.A. Neuwelt, W.G. Johnson, N.K. Blank, M.A. Pagel, C. Maslen-McClure, M.J. McClure and P.M. Wu (1985) Characterization of a new model of GM2-gangliosidosis (Sandhoff's disease) in Korat cats. J. Clin. Invest. 76 482-490.
169. T. Nunoya, M. Tajima and M. Mizutani (1983) A new mutant of Japanese quail (Coturnix coturnix japonica) characterized by generalized glycogenosis. Lab. Anim. 17 138-142.
170. A.S. O'Marcaigh and M.J. Cowan (1997) Bone marrow transplantation for inherited diseases. Curr. Opin. Oncol. 9 126-130.
171. B.M. O'Sullivan, P.J. Healy, I.R. Fraser, R.E. Nieper, R.J. Whittle and C.A. Sewell (1981) Generalised glycogenosis in Brahman cattle. Aust. Vet. J. 57 227-229.
172. S. Okada and J.S. O'Brien (1969) Tay-Sachs disease: generalized absence of a beta-D-N-acetylhexosaminidase component. Science 165 698-700.
173. J.S. Patterson, M.Z. Jones, K.L. Lovell and B. Abbitt (1991) Neuropathology of bovine beta-mannosidosis. J. Neuropathol. Exp. Neurol. 50 538-546.
174. C. Peters, M. Braun, B. Weber, M. Wendland, B. Schmidt, R. Pohlmann, A. Waheed and K. von Figura (1990) Targeting of a lysosomal membrane protein: a tyrosine-containing endocytosis signal in the cytoplasmic tail of lysosomal acid phosphatase is necessary and sufficient for targeting to lysosomes. Embo. J. 9 3497-3506.
175. N.C. Phillips, D. Robinson, B.G. Winchester and R.D. Jolly (1974) Mannosidosis in Angus cattle: the enzymic defect. Biochem. J. 137 363-371.
176. K.R. Pierce, S.D. Kosanke, W.W. Bay and C.H. Bridges (1976) Animal model of human disease: GM2 gangliosidosis. Am. J. Pathol. 83 419-422.
177. K.P. Ponder, J.R. Melniczek, L. Xu, M.A. Weil, T.M. O'Malley, P.A. O'Donnell, V.W. Knox, G.D. Aguirre, H. Mazrier, N.M. Ellinwood, M. Sleeper, A.M. Maguire, S.W. Volk, R.L. Mango, J. Zweigle, J.H. Wolfe and M.E. Haskins (2002) Therapeutic neonatal hepatic gene therapy in mucopolysaccharidosis VII dogs. Proc. Natl. Acad. Sci. USA, 99 13102-13107.
178. A. Preusser-Kunze, M. Mariappan, B. Schmidt, S.L. Gande, K. Mutenda, D. Wenzel, K. von Figura and T. Dierks (2005) Molecular characterization of the human Calpha-formylglycine-generating enzyme. J. Biol. Chem. 280 14810-14900.
179. D.J. Prieur, M.J. Wilkerson, D.C. Lewis, N.G. Kennaway, J.R. Toone, D.A. Applegarth, H. Vallance, S.L. Marks and R.K. Wood (1995) Iduronate-2-sulfatase deficiency in a dog: Canine Hunter syndrome. Am. J. Hum. Genet. 57 A182.
180. D.H. Pritchard, D.V. Napthine and A.J. Sinclair (1980) Globoid cell leucodystrophy in polled Dorset sheep. Vet. Pathol. 17 399-405.
181. R.L. Proia and E. Soravia (1987) Organization of the gene encoding the human beta-hexosaminidase alpha-chain. J. Biol. Chem. 262 5677-5681.
182. D.P. Purpura and H.J. Baker (1978) Meganeurites and other aberrant processes of neurons in feline GM1-gangliosidosis: a Golgi study. Brain. Res. 143 13-26.
183. D.P. Purpura, G.D. Pappas and H.J. Baker (1978) Fine structure of meganeurites and secondary growth processes in feline GM1-gangliosidosis. Brain. Res. 143 1-12.
184. D.P. Purpura and H.J. Baker (1977) Neurite induction in mature cortical neurones in feline GM1-ganglioside storage disease. Nature 266 553-554.
185. S. Raghavan, G. Stuer, L. Riviere, J. Alroy and E.H. Kolodny (1988) Characterization of alpha-mannosidase in feline mannosidosis. J. Inherit. Metab. Dis. 11 3-16.
186. D.H. Read, D.D. Harrington, T.W. Keenana and E.J. Hinsman (1976) Neuronal-visceral GM1 gangliosidosis in a dog with beta-galactosidase deficiency. Science 194 442-445.
187. W.K. Read and C.H. Bridges (1968) Cerebrospinal lipodystrophy in swine: a new disease model in comparative pathology. Pathol. Vet. 5 67-74.
188. M.L. Reitman, A. Varki and S. Kornfeld (1981) Fibroblasts from patients with I-cell disease and pseudo-hurler polydystrophy are deficient in uridine 59-diphosphate-N-acetylglucosamine: glycoprotein N-acetylglucosaminylphosphotransferase activity. J. Clin. Invest. 67 1574-1579.
189. R.C. Riis, J.F. Cummings, E.R. Loew and A. de Lahunta (1992) Tibetan terrier model of canine ceroid lipofuscinosis. Am. J. Med. Genet. 42 615-621.
190. L.S. Rittmann, L.L. Tennant and J.S. O'Brien (1980) Dog GM1 gangliosidosis: characterization of the residual liver acid beta-galactosidase. Am. J. Hum. Genet. 32 880-889.
191. M. Rodriguez, J.S. O'Brien, R.S. Garrett and H.C. Powell (1982) Canine GM1 gangliosidosis. An ultrastructural and biochemical study. J. Neuropathol. Exp. Neurol. 41 618-629.
192. J.H. Rossmeisl Jr., R. Duncan, J. Fox, E.S. Herring and K.D. Inzana (2003) Neuronal ceroid-lipofuscinosis in a Labrador Retriever. J. Vet. Diagn. Invest. 15 457-460.
193. B. Sachs (1887) Ib arrested cerebral development with special reference to its cortical pathology. J. Nerv. Ment. Dis. 14 541-553.
194. K. Sandhoff (1969) Variation of beta-N-acetylhezosaminidase-patter in Tay-Sachs disease. FEBS Letters 4 351-354.
195. K. Sandhoff, T. Kolter, K. Hartzer, U. Schepers and N. Remmel (2001) Sphingolipid activator proteins. C.R. Scriver, A.L. Beaudet, D. Valle, W.S. Sly, B. Childs, K.W. Kinzler, B. Vogelstein (Eds) The Metabolic and Molecular Basis of Inherited Disease vol. 8 New York: McGraw-Hill 3371-3388.
196. A.T. Sandison and L.J. Anderson (1970) Histiocytosis in two pigs and a cow: conditions resembling lipid storage disorders in man. J. Pathol. 100 207-210.
197. M.S. Sands and E.H. Birkenmeier (1993) A single-base-pair deletion in the beta-glucuronidase gene accounts for the phenotype of murine mucopolysaccharidosis type VII. Proc. Natl. Acad. Sci. USA, 90 6567-6571.
198. M.S. Sands, C. Vogler, A. Torrey, B. Levy, B. Gwynn, J. Grubb, W.S. Sly and E.H. Birkenmeier (1997) Murine mucopolysaccharidosis type VII: long term therapeutic effects of enzyme replacement and enzyme replacement followed by bone marrow transplantation. J. Clin. Invest. 99 1596-1605.
199. B. Sandstrom, J. Westman and P.A. Ockerman (1969) Glycogenosis of the central nervous system in the cat. Acta Neuropathol. 14 194-200.
200. G.K. Saunders, P.A. Wood, R.K. Myers, L.G. Shell and R. Carithers (1988) GM1 gangliosidosis in Portuguese water dogs: pathologic and biochemical findings. Vet. Pathol. 25 265-269.
201. E.H. Schuchman, T.K. Toroyan, M.E. Haskins and R.J. Desnick (1989) Characterization of the defective beta-glucuronidase activity in canine mucopolysaccharidosis type VII. Enzyme 42 174-180.
202. L.G. Shell, A.I. Potthoff, R. Carithers, A. Katherman, G.K. Saunders, P.A. Wood and U. Giger (1989) Neuronal-visceral GM1 gangliosidosis in Portuguese water dogs. J. Vet. Intern. Med. 3 1-7.
203. R.M. Shull and N.E. Hastings (1985) Fluorometric assay of alpha-L-iduronidase in serum for detection of affected and carrier animals in a canine model of I. Clin. Chem. 31 826-827.
204. R.M. Shull, R.G. Helman, E. Spellacy, G. Constantopoulos, R.J. Munger and E.F. Neufeld (1984) Morphologic and biochemical studies of canine I. Am. J. Pathol. 114 487-495.
205. R.M. Shull, R.J. Munger, E. Spellacy, C.W. Hall, G. Constantopoulos and E.F. Neufeld (1982) Canine alpha-L-iduronidase deficiency. A model of mucopolysaccharidosis I. Am. J. Pathol. 109 228-244.
206. D.A. Siegel and S.U. Walkley (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.
207. D.C. Silverstein Domrowski, K.P. Carmichael, P. Wang, T. O'Malley, M.E. Haskins and U. Giger (2004) Mucopolysaccharidosis type VII in a German shepherd dog. J. Am. Vet. Med. Assoc. 224 553-557.
208. H.S. Singer and L.C. Cork (1989) Canine GM2 gangliosidosis: morphological and biochemical analysis. Vet. Pathol. 26 114-120.
209. D.B. Sisk, D.C. Levesque, P.A. Wood and E.L. Styer (1990) Clinical and pathologic features of ceroid lipofuscinosis in two Australian cattle dogs. J. Am. Vet. Med. Assoc. 197 361-364.
210. B.J. Skelly, D.R. Sargan, M.E. Herrtage and B.G. Winchester (1996) The molecular defect underlying canine fucosidosis. J. Med. Genet. 33 284-288.
211. B.J. Skelly, D.R. Sargan, B.G. Winchester, M.O. Smith, M.E. Herrtage and U. Giger (1999) Genomic screening for fucosidosis in English springer spaniels. Am. J. Vet. Res. 60 726-779.
212. M.O. Smith, D.A. Wenger, S.L. Hill and J. Matthews (1996) Fucosidosis in a family of American-bred English springer spaniels. J. Am. Vet. Med. Assoc. 209 2088-2090.
213. S.P. Snyder, R.S. Kingston and D.A. Wenger (1982) Niemann-Pick disease: sphingomyelinosis of Siamese cats. Am. J. Pathol. 108 252-254.
214. E. Spellacy, R.M. Shull, G. Constantopoulos and E.F. Neufeld (1983) A canine model of human alpha-L-iduronidase deficiency. Proc. Natl. Acad. Sci. USA, 80 6091-6095.
215. L.J. Stoltzfus, B. Sosa-Pineda, S.M. Moskowitz, K.P. Menon, B. Dlott, L. Hooper, D.B. Teplow, R.M. Shull and E.F. Neufeld (1992) Cloning and characterization of cDNA encoding canine alpha-L-iduronidase: mRNA deficiency in mucopolysaccharidosis I dog. J. Biol. Chem. 267 6570-6575.
216. Y. Suhara, S. Ishiura, T. Tsukahara and H. Sugita (1989) Mature 98,000-dalton acid alpha-glucosidase is deficient in Japanese quails with acid maltase deficiency. Muscle Nerve 12 670-678.
217. Y. Suzuki, J. Austin, D. Armstrong, K. Suzuki, J. Schlenker and T. Fletcher (1970) Studies in globoid leukodystrophy: enzymatic and lipid findings in the canine form. Exp. Neurol. 29 65-75.
218. Y. Suzuki, T. Miyatake, T.F. Fletcher and K. Suzuki (1974) Glycosphingolipid beta-galactosidases. 3. Canine form of globoid cell leukodystrophy: comparison with the human disease. J. Biol. Chem. 249 2109-2112.
219. L. Svennerholm (1962) The chemical structure of normal human rain and Tay-Sachs gangliosides. Biochem. Biophys. Res. Commun. 9 436-446.
220. W. Tay (1881) Symmetrical changes in the region of the yellow spot in each eye of an infant. Trans. Ophhalmol. Soc. UK, 1 155-157.
221. J.N. Thompson, M.Z. Jones, G. Dawson and P.S. Huffman (1992) N-acetylglucosamine 6-sulphatase deficiency in a Nubian goat: a model of Sanfilippo syndrome type D (mucopolysaccharidosis IIID). J. Inherit. Metab. Dis. 15 760-768.
222. M. Tondeur, E. Vamos-Hurwitz, S. Mockel-Pohl, J.P. Dereume, N. Cremer and H. Loeb (1971) Clinical, biochemical, and ultrastructural studies in a case of chondrodystrophy presenting the I-cell phenotype in tissue culture. J. Pediatr. 79 366-378.
223. J. Tyynela, I. Sohar, D.E. Sleat, R.M. Gin, R.J. Donnelly, M. Baumann, M. Haltia and P. Lobel (2000) A mutation in the ovine cathepsin D gene causes a congenital lysosomal storage disease with profound neurodegeneration. EMBO J. 19 2786-2792.
224. N.S. Van De Water, R.D. Jolly and B.R. Farrow (1979) Canine Gaucher disease: the enzymic defect. Aust. J. Exp. Biol. Med. Sci. 57 551-554.
225. T. Victoria, M.A. Rafi and D.A. Wenger (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.
226. C.H. Vite, J.C. McGowan, S.N. Niogi, M.A. Passini, K.J. Drobatz, M.E. Haskins and J.H. Wolfe (2005) Effective gene therapy for an inherited CNS disease in a large animal model. Ann. Neurol. 57 355-364.
227. C. Vogler, E.H. Birkenmeier, W.S. Sly, B. Levy, C. Pegors, J.W. Kyle and W.G. Beamer (1990) A murine model of mucopolysaccharidosis VII. Gross and microscopic findings in beta-glucuronidase-deficient mice. Am. J. Pathol. 136 207-217.
228. A. Waheed, R. Pohlmann, A. Hasilik, K. von Figura, A. van Elsen and J.G. Leroy (1982) Deficiency of UDP-N-acetylglucosamine: lysosomal enzyme N-acetylglucosamine-1-phosphotransferase in organs of I-cell patients. Biochem. Biophys. Res. Commun. 105 1052-1058.
229. S.U. Walkley (1988) Pathobiology of neuronal storage disease. Int. Rev. Neurobiol. 29 191-244.
230. S.U. Walkley (2003) Neurobiology and cellular pathogenesis of glycolipid storage diseases. Philos. Trans. R. Soc. Lond. B. Biol. Sci. 358 893-904.
231. S.U. Walkley, H.J. Baker, M.C. Rattazzi, M.E. Haskins and J.Y. Wu (1991) Neuroaxonal dystrophy in neuronal storage disorders: evidence for major GABAergic neuron involvement. J. Neurol. Sci. 104 1-8.
232. S.U. Walkley, M.E. Haskins and R.M. Shull (1988) Alterations in neuron morphology in mucopolysaccharidosis type I: a Golgi study. Acta Neuropathol. 75 611-620.
233. S.U. Walkley, S. Wurzelmann, M.C. Rattazzi and H.J. Baker (1990) Distribution of ectopic neurite growth and other geometrical distortions of CNS neurons in feline GM2 gangliosidosis. Brain Res. 510 63-73.
234. H.C. Walvoort, J.A. Dormans and T.S. van den Ingh (1985) Comparative pathology of the canine model of glycogen storage disease type II (Pompe's disease). J. Inherit. Metab. Dis. 8 38-46.
235. H.C. Walvoort, R.G. Slee and J.F. Koster (1982) Canine glycogen storage disease type II: a biochemical study of an acid alpha-glucosidase-deficient Lapland dog. Biochim. Biophys. Acta, 715 63-69.
236. H.C. Walvoort, R.G. Slee, K.J. Sluis, J.F. Koster and A.J. Reuser (1984) Biochemical genetics of the Lapland dog model of glycogen storage disease type II (acid alpha-glucosidase deficiency). Am. J. Med. Genet. 19 589-598.
237. C.D. Warren, J. Alroy, B. Bugge, P.F. Daniel, S.S. Raghavan, E.H. Kolodny, J.J. Lamar and R.W. Jeanloz (1986) Oligosaccharides from placenta: early diagnosis of feline mannosidosis. FEBS Lett. 195 247-252.
238. H. Weissenbock and C. Rossel (1997) Neuronal ceroid-lipofuscinosis in a domestic cat: clinical, morphological and immunohistochemical findings. J. Comp. Pathol. 117 17-24.
239. D.A. Wenger, M. Sattler, T. Kudoh, S.P. Snyder and R.S. Kingston (1980) Niemann-Pick disease: a genetic model in Siamese cats. Science 208 1471-1473.
240. D.A. Wenger, K. Suzuki, Y. Suzuki and K. Suzuki (2001) Galactosylceramide lipidosis. Globoid cell leukodystrophy (Krabbe disease). C.R. Scriver, A.L. Beaudet, W.S. Sly, V. D (Eds) The Metabolic & Molecular Bases of Inherited Disease New York: McGraw-Hill 3669-3694.
241. R.B. Wheeler, J.D. Sharp, R.A. Schultz, J.M. Joslin, R.E. Williams and S.E. Mole (2002) The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein. Am. J. Hum. Genet. 70 537-542.
242. M.A. Williams and M. Fukuda (1990) Accumulation of membrane glycoproteins in lysosomes requires a tyrosine residue at a particular position in the cytoplasmic tail. J. Cell. Biol. 111 955-966.
243. H.A. Wisselaar, M.M. Hermans, W.J. Visser, M.A. Kroos, B.A. Oostra, W. Aspden, B. Harrison, D.J. Hetzel, A.J. Reuser and R.D. Drinkwater (1993) Biochemical genetics of glycogenosis type II in Brahman cattle. Biochem. Biophys. Res. Commun. 190 941-947.
244. J.E. Wraith (2001) Enzyme replacement therapy in mucopolysaccharidosis type I: progress and emerging difficulties. J. Inherit. Metab. Dis. 24 245-250.
245. L. Xu, M.E. Haskins, J.R. Melniczek, C. Gao, M.A. Weil, T.M. O'Malley, P.A. O'Donnell, H. Mazrier, N.M. Ellinwood, J. Zweigle, J.H. Wolfe and K.P. Ponder (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.
246. L. Xu, R.L. Mango, M.S. Sands, M.E. Haskins, N.M. Ellinwood and K.P. Ponder (2002) Evaluation of pathological manifestations of disease in mucopolysaccharidosis VII mice after neonatal hepatic gene therapy. Mol. Ther. 6 745-758.
247. T. Yamagami, M. Umeda, S. Kamiya and K. Sugiyama (1989) Neurovisceral sphingomyelinosis in a Siamese cat. Acta Neuropathol. 79 330-332.
248. G. Yogalingam, T. Pollard, B. Gliddon, R.D. Jolly and J.J. Hopwood (2002) Identification of a mutation causing mucopolysaccharidosis type IIIA in New Zealand Huntaway dogs. Genomics 79 150-153.
249. M. Yoshida, J. Noguchi, H. Ikadai, M. Takahashi and S. Nagase (1993) Arylsulfatase B-deficient mucopolysaccharidosis in rats. J. Clin. Invest. 91 1099-1104.
250. M. Yoshida, M. Tachibana, E. Kobayashi, H. Ikadai and T. Kunieda (1994) The locus responsible for mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) is located on rat chromosome 2. Genomics 20 145-146.
251. E. Zito, A. Fraldi, S. Pepe, I. Annunziata, G. Kobinger, P. Di Natale, A. Ballabio and M.P. Cosma (2005) Sulphatase activities are regulated by the interaction of sulphatase-modifying factor 1 with SUMF2. EMBO Rep. 6 655-660.