Clinical Biochemistry of Domestic Animals (Sixth Edition) - UMK ...
Clinical Biochemistry of Domestic Animals (Sixth Edition) - UMK ...
Clinical Biochemistry of Domestic Animals (Sixth Edition) - UMK ...
Create successful ePaper yourself
Turn your PDF publications into a flip-book with our unique Google optimized e-Paper software.
748<br />
Chapter | 24 Lysosomal Storage Diseases<br />
Sisk , D. B. , Levesque , D. C. , Wood , P. A. , and Styer , E. L. ( 1990 ).<br />
<strong>Clinical</strong> and pathologic features <strong>of</strong> ceroid lip<strong>of</strong>uscinosis in two<br />
Australian cattle dogs . J. Am. Vet. Med. Assoc. 197 , 361 – 364 .<br />
Skelly , B. J. , Sargan , D. R. , Herrtage , M. E. , and Winchester , B. G.<br />
( 1996 ). The molecular defect underlying canine fucosidosis . J. Med.<br />
Genet. 33 , 284 – 288 .<br />
Skelly , B. J. , Sargan , D. R. , Winchester , B. G. , Smith , M. O. , Herrtage , M. E. ,<br />
and Giger , U. (1999 ). Genomic screening for fucosidosis in English<br />
springer spaniels . Am. J. Vet. Res. 60 , 726 –779 .<br />
Smith , M. O. , Wenger , D. A. , Hill , S. L. , and Matthews , J. ( 1996 ).<br />
Fucosidosis in a family <strong>of</strong> American-bred English springer spaniels .<br />
J. Am. Vet. Med. Assoc. 209 , 2088 – 2090 .<br />
Snyder , S. P. , Kingston , R. S. , and Wenger , D. A. ( 1982 ). Niemann-Pick<br />
disease: sphingomyelinosis <strong>of</strong> Siamese cats . Am. J. Pathol. 108 ,<br />
252 – 254 .<br />
Spellacy , E. , Shull , R. M. , Constantopoulos , G. , and Neufeld , E. F. ( 1983 ).<br />
A canine model <strong>of</strong> human alpha-L-iduronidase deficiency . Proc. Natl.<br />
Acad. Sci. USA 80 , 6091 – 6095 .<br />
Stoltzfus , L. J. , Sosa-Pineda , B. , Moskowitz , S. M. , Menon , K. P. ,<br />
Dlott , B. , Hooper , L. , Teplow , D. B. , Shull , R. M. , and Neufeld , E. F.<br />
( 1992 ). Cloning and characterization <strong>of</strong> cDNA encoding canine<br />
alpha-L-iduronidase: mRNA deficiency in mucopolysaccharidosis I<br />
dog . J. Biol. Chem. 267 , 6570 – 6575 .<br />
Suhara , Y. , Ishiura , S. , Tsukahara , T. , and Sugita , H. ( 1989 ). Mature<br />
98,000-dalton acid alpha-glucosidase is deficient in Japanese quails<br />
with acid maltase deficiency . Muscle Nerve 12 , 670 – 678 .<br />
Suzuki , Y. , Austin , J. , Armstrong , D. , Suzuki , K. , Schlenker , J. , and<br />
Fletcher , T. (1970 ). Studies in globoid leukodystrophy: enzymatic<br />
and lipid findings in the canine form . Exp. Neurol. 29 , 65 – 75 .<br />
Suzuki , Y. , Miyatake , T. , Fletcher , T. F. , and Suzuki , K. ( 1974 ).<br />
Glycosphingolipid beta-galactosidases. 3. Canine form <strong>of</strong> globoid<br />
cell leukodystrophy: comparison with the human disease . J. Biol.<br />
Chem. 249 , 2109 – 2112 .<br />
Svennerholm , L. (1962 ). The chemical structure <strong>of</strong> normal human rain and<br />
Tay-Sachs gangliosides . Biochem. Biophys. Res. Commun. 9 , 436 –446 .<br />
Tay , W. ( 1881 ). Symmetrical changes in the region <strong>of</strong> the yellow spot in<br />
each eye <strong>of</strong> an infant . Trans. Ophhalmol. Soc. UK 1 , 155 – 157 .<br />
Thompson , J. N. , Jones , M. Z. , Dawson , G. , and Huffman , P. S. ( 1992 ).<br />
N-acetylglucosamine 6-sulphatase deficiency in a Nubian goat: a<br />
model <strong>of</strong> Sanfilippo syndrome type D (mucopolysaccharidosis IIID) .<br />
J. Inherit. Metab. Dis. 15 , 760 – 768 .<br />
Tondeur , M. , Vamos-Hurwitz , E. , Mockel-Pohl , S. , Dereume , J. P. ,<br />
Cremer , N. , and Loeb , H. ( 1971 ). <strong>Clinical</strong>, biochemical, and ultrastructural<br />
studies in a case <strong>of</strong> chondrodystrophy presenting the I-cell<br />
phenotype in tissue culture . J. Pediatr. 79 , 366 – 378 .<br />
Tyynela , J. , Sohar , I. , Sleat , D. E. , Gin , R. M. , Donnelly , R. J. , Baumann , M. ,<br />
Haltia , M. , and Lobel , P. ( 2000 ). A mutation in the ovine cathepsin<br />
D gene causes a congenital lysosomal storage disease with pr<strong>of</strong>ound<br />
neurodegeneration . EMBO J. 19 , 2786 – 2792 .<br />
Van De Water , N. S. , Jolly , R. D. , and Farrow , B. R. ( 1979 ). Canine<br />
Gaucher disease: the enzymic defect . Aust. J. Exp. Biol. Med. Sci. 57 ,<br />
551 – 554 .<br />
Victoria , T. , Rafi , M. A. , and Wenger , D. A. ( 1996 ). Cloning <strong>of</strong> the canine<br />
GALC cDNA and identification <strong>of</strong> the mutation causing globoid cell<br />
leukodystrophy in West Highland White and Cairn terriers . Genomics<br />
33 , 457 – 462 .<br />
Vite , C. H. , McGowan , J. C. , Niogi , S. N. , Passini , M. A. , Drobatz , K. J. ,<br />
Haskins , M. E. , and Wolfe , J. H. ( 2005 ). Effective gene therapy for<br />
an inherited CNS disease in a large animal model . Ann. Neurol. 57 ,<br />
355 – 364 .<br />
Vogler , C. , Birkenmeier , E. H. , Sly , W. S. , Levy , B. , Pegors , C. , Kyle , J. W. ,<br />
and Beamer , W. G. ( 1990 ). A murine model <strong>of</strong> mucopolysaccharidosis<br />
VII. Gross and microscopic findings in beta-glucuronidasedeficient<br />
mice . Am. J. Pathol. 136 , 207 – 217 .<br />
Waheed , A. , Pohlmann , R. , Hasilik , A. , von Figura , K. , van Elsen , A. ,<br />
and Leroy , J. G. ( 1982 ). Deficiency <strong>of</strong> UDP-N-acetylglucosamine:<br />
lysosomal enzyme N-acetylglucosamine-1-phosphotransferase in<br />
organs <strong>of</strong> I-cell patients . Biochem. Biophys. Res. Commun. 105 ,<br />
1052 – 1058 .<br />
Walkley , S. U. ( 1988 ). Pathobiology <strong>of</strong> neuronal storage disease . Int. Rev.<br />
Neurobiol. 29 , 191 – 244 .<br />
Walkley , S. U. ( 2003 ). Neurobiology and cellular pathogenesis <strong>of</strong> glycolipid<br />
storage diseases . Philos. Trans. R. Soc. Lond. B. Biol. Sci. 358 ,<br />
893 – 904 .<br />
Walkley , S. U. , Baker , H. J. , Rattazzi , M. C. , Haskins , M. E. , and Wu , J. Y.<br />
(1991 ). Neuroaxonal dystrophy in neuronal storage disorders: evidence<br />
for major GABAergic neuron involvement . J. Neurol. Sci. 104 , 1 – 8 .<br />
Walkley , S. U. , Haskins , M. E. , and Shull , R. M. ( 1988 ). Alterations in<br />
neuron morphology in mucopolysaccharidosis type I: a Golgi study .<br />
Acta Neuropathol. 75 , 611 – 620 .<br />
Walkley , S. U. , Wurzelmann , S. , Rattazzi , M. C. , and Baker , H. J. ( 1990 ).<br />
Distribution <strong>of</strong> ectopic neurite growth and other geometrical distortions<br />
<strong>of</strong> CNS neurons in feline GM2 gangliosidosis . Brain Res. 510 ,<br />
63 – 73 .<br />
Walvoort , H. C. , Dormans , J. A. , and van den Ingh , T. S. ( 1985 ).<br />
Comparative pathology <strong>of</strong> the canine model <strong>of</strong> glycogen storage disease<br />
type II (Pompe’s disease) . J. Inherit. Metab. Dis. 8 , 38 – 46 .<br />
Walvoort , H. C. , Slee , R. G. , and Koster , J. F. ( 1982 ). Canine glycogen<br />
storage disease type II: a biochemical study <strong>of</strong> an acid alphaglucosidase-deficient<br />
Lapland dog . Biochim. Biophys. Acta 715 ,<br />
63 – 69 .<br />
Walvoort , H. C. , Slee , R. G. , Sluis , K. J. , Koster , J. F. , and Reuser , A. J.<br />
( 1984 ). Biochemical genetics <strong>of</strong> the Lapland dog model <strong>of</strong> glycogen<br />
storage disease type II (acid alpha-glucosidase deficiency) . Am. J.<br />
Med. Genet. 19 , 589 – 598 .<br />
Warren , C. D. , Alroy , J. , Bugge , B. , Daniel , P. F. , Raghavan , S. S. ,<br />
Kolodny , E. H. , Lamar , J. J. , and Jeanloz , R. W. ( 1986 ).<br />
Oligosaccharides from placenta: early diagnosis <strong>of</strong> feline mannosidosis<br />
. FEBS Lett. 195 , 247 – 252 .<br />
Weissenbock , H. , and Rossel , C. ( 1997 ). Neuronal ceroid-lip<strong>of</strong>uscinosis<br />
in a domestic cat: clinical, morphological and immunohistochemical<br />
findings . J. Comp. Pathol. 117 , 17 – 24 .<br />
Wenger , D. A. , Sattler , M. , Kudoh , T. , Snyder , S. P. , and Kingston , R. S.<br />
( 1980 ). Niemann-Pick disease: a genetic model in Siamese cats .<br />
Science 208 , 1471 – 1473 .<br />
Wenger, D. A., Suzuki, K., Suzuki, Y., and Suzuki, K. (2001).<br />
Galactosylceramide lipidosis. Globoid cell leukodystrophy (Krabbe<br />
disease). In “ The Metabolic & Molecular Bases <strong>of</strong> Inherited Disease ”<br />
(C. R. Scriver, A. L. Beaudet, W. S. Sly, and V. D., Eds.), pp.<br />
3669–3694. McGraw-Hill, New York.<br />
Wheeler , R. B. , Sharp , J. D. , Schultz , R. A. , Joslin , J. M. , Williams , R. E. ,<br />
and Mole , S. E. ( 2002 ). The gene mutated in variant late-infantile<br />
neuronal ceroid lip<strong>of</strong>uscinosis (CLN6) and in nclf mutant mice<br />
encodes a novel predicted transmembrane protein . Am. J. Hum.<br />
Genet. 70 , 537 – 542 .<br />
Williams , M. A. , and Fukuda , M. ( 1990 ). Accumulation <strong>of</strong> membrane<br />
glycoproteins in lysosomes requires a tyrosine residue at a particular<br />
position in the cytoplasmic tail . J. Cell. Biol. 111 , 955 – 966 .<br />
Wisselaar , H. A. , Hermans , M. M. , Visser , W. J. , Kroos , M. A. ,<br />
Oostra , B. A. , Aspden , W. , Harrison , B. , Hetzel , D. J. , Reuser , A. J. ,