Clinical Biochemistry of Domestic Animals (Sixth Edition) - UMK ...

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Chapter | 2 Comparative Medical Genetics
mice following AAV-mediated neonatal gene transfer . Gene Ther. 8 ,
1291 – 1298 .
Daly , T. M. , Okuyama , T. , Vogler , C. , Haskins , M. E. , Muzyczka , N. ,
and Sands , M. S. ( 1999 a ). Neonatal intramuscular injection with
recombinant adeno-associated virus results in prolonged betaglucuronidase
expression in situ and correction of liver pathology in
mucopolysaccharidosis type VII mice . Hum. Gene Ther. 10 , 85 – 94 .
Daly , T. M. , Vogler , C. , Levy , B. , Haskins , M. E. , and Sands , M. S.
( 1999 b ). 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 .
Donsante , A. , Vogler , C. , Muzyczka , N. , Crawford , J. M. , Barker , J. ,
Flotte , T. , Campbell-Thompson , M. , Daly , T. , and Sands , M. S.
( 2001 ). Observed incidence of tumorigenesis in long-term rodent
studies of rAAV vectors . Gene Ther. 8 , 1343 – 1346 .
Dunbar , C. E. , Kohn , D. B. , Schiffmann , R. , Barton , N. W. , Nolta , J. A. ,
Esplin , J. A. , Pensiero , M. , Long , Z. , Lockey , C. , Emmons , R. V. ,
Csik , S. , Leitman , S. , Krebs , C. B. , Carter , C. , Brady , R. O. , and
Karlsson , S. ( 1998 ). Retroviral transfer of the glucocerebrosidase
gene into CD34 cells from patients with Gaucher disease: in vivo
detection of transduced cells without myeloablation . Hum. Gene
Ther. 9 , 2629 – 2640 .
Elliger , S. S. , Elliger , C. A. , Aguilar , C. P. , Raju , N. R. , and Watson , G. L.
( 1999 ). Elimination of lysosomal storage in brains of MPS VII mice
treated by intrathecal administration of an adeno-associated virus
vector . Gene Ther. 6 ( 6 ) , 1175 – 1178 .
Ellinwood , N. M. , Vite , C. H. , and Haskins , M. E. ( 2004 ). Gene therapy
for lysosomal storage diseases: the lessons and promise of animal
models . J. Gene Med. 6 , 481 – 506 .
Fields , B. N. , and Knipe , D. M. ( 1986 ). “ Fundamental Virology . ” Raven
Press , New York .
Follenzi , A. , Sabatino , G. , Lombardo , A. , Boccaccio , C. , and Naldini , L.
( 2002 ). Efficient gene delivery and targeted expression to hepatocytes
in vivo by improved lentiviral vectors . Hum. Gene Ther. 13 ,
243 – 260 .
Foureman , P. , Whiteley , M. , and Giger , U. ( 2002 ). Canine leukocyte adhesion
deficiency: presence of the Cys36Ser beta 2 integrin mutation in
an affected Irish setter cross-bred dog and in Irish Red and White setters
in the US . J. Vet. Intern. Med. 16 , 518 – 521 .
Fujii , J. , Otsu , K. , Zorzato , F. , de Leon , S. , Khanna , V. K. , Weiler , J. E. ,
O’Brien , P. J. , and MacLennan , D. H. ( 1991 ). Identification of a
mutation in porcine ryanodine receptor associated with malignant
hyperthermia . Science 253 ( 5018 ) , 448 – 451 .
Fyfe , J. C. , Madsen , M. , Hojrup , P. , Christensen , E. I. , Tanner , S. M. , de
la Chapelle , A. , He , Q. , and Moestrup , S. K. ( 2004 ). The functional
cobalamin (vitamin B12)-intrinsic factor receptor is a novel complex
of cubilin and amnionless . Blood 103 , 1573 – 1579 .
Gao , C. , Sands , M. S. , Haskins , M. E. , and Ponder , K. P. ( 2000 ). Delivery
of a retroviral vector expressing human beta-glucuronidase to the
liver and spleen decreases lysosomal storage in mucopolysaccharidosis
VII mice . Mol. Ther. 2 , 233 – 244 .
Gao , G. , Vandenberghe , L. H. , and Wilson , J. M. ( 2005 ). New recombinant
serotypes of AAV vectors . Curr. Gene Ther. 5 , 285 – 297 .
Giger , U. Hereditary ethrocyte disorders . In “ Kirk’s Current Veterinary
Therapy XIV ( J. D. Bonagura , Ed.) , Saunders , Philadelphia , in
press.
Giger , U. , Harvey , J. W. , Yamaguchi , R. A. , McNulty , P. K. , Chiapella , A. ,
and Beutler , E. ( 1985 ). Inherited phosphofructokinase deficiency in
dogs with hyperventilation-induced hemolysis: increased in vitro and
in vivo alkaline fragility of erythrocytes . Blood 65 , 345 – 351 .
Giger , U. , and Jezyk , P. F. ( 1992 ). Diagnosis of inherited diseases in small
animals . In “ Current Veterinary Therapy XI Small Animal Practice ”
( R. W. Kirk and J. D. Bonagura , Eds.) , pp. 18 – 22 . Saunders ,
Philadelphia .
Giger , U. , Sargan , D. R. , and McNiel , E. A. (2006 ). Breed-specific hereditary
diseases and genetic screening . In “ The Dog and Its Genome ”
( E. A. Ostrander , U. Giger , and K. Lindblad-Toh , Eds.) pp. 249–289.
Cold Spring Harbor Laboratory Press , New York .
Griffey , M. , Macauley , S. L. , Ogilvie , J. M. , and Sands , M. S. ( 2005 ).
AAV2-mediated ocular gene therapy for infantile neuronal ceroid
lipofuscinosis . Mol. Ther. 12 , 413 – 421 .
Hacein-Bey-Abina , S. , von Kalle , C. , Schmidt , M. , Le Deist , F. ,
Wulffraat , N. , McIntyre , E. , Radford , I. , Villeval , J. L. , Fraser , C. C. ,
Cavazzana-Calvo , M. , and Fischer , A. ( 2003 ). A serious adverse
event after successful gene therapy for X-linked severe combined
immunodeficiency . N. Engl. J. Med. 348 , 255 – 256 .
Hartung , S. D. , Frandsen , J. L. , Pan , D. , Koniar , B. L. , Graupman , P. ,
Gunther , R. , Low , W. C. , Whitley , C. B. , and McIvor , R. S. ( 2004 ).
Correction of metabolic, craniofacial, and neurologic abnormalities in
MPS I mice treated at birth with adeno-associated virus vector transducing
the human alpha-L-iduronidase gene . Mol. Ther. 9 , 866 – 875 .
Haskell , R. E. , Hughes , S. M. , Chiorini , J. A. , Alisky , J. M. , and
Davidson , B. L. ( 2003 ). Viral-mediated delivery of the late-infantile
neuronal ceroid lipofuscinosis gene, TPP-I to the mouse central nervous
system . Gene Ther. 10 ( 1 ) , 34 – 42 .
Haskins, M. E., and Giger, U. Lysosomal storage diseases. In “Biochemistry
in Domestic Animals ” (J. Kaneko, Ed.), Elsevier Academic Press,
Boston, in press.
He , Q. , Madsen , M. , Kilkenney , A. , Gregory , B. , Christensen , E. I. ,
Vorum , H. , Hojrup , P. , Schaffer , A. A. , Kirkness , E. F. , Tanner , S. M. ,
de la Chapelle , A. , Giger , U. , Moestrup , S. K. , and Fyfe , J. C. ( 2005 ).
Amnionless function is required for cubilin brush-border expression
and intrinsic factor-cobalamin (vitamin B12) absorption in vivo .
Blood 106 , 1447 – 1453 .
Hennig , A. K. , Ogilvie , J. M. , Ohlemiller , K. K. , Timmers , A. M. ,
Hauswirth , W. W. , and Sands , M. S. ( 2004 ). AAV-mediated intravitreal
gene therapy reduces lysosomal storage in the retinal pigmented
epithelium and improves retinal function in adult MPS VII mice . Mol.
Ther. 10 , 106 – 116 .
Henthorn , P. S. , and Giger , U. ( 2006 ). Cystinuria . In “ The Dog and Its
Genome ” ( E. A. Ostrander , U. Giger , and K. Lindblad-Toh , Eds.) ,
pp. 349 – 364 . Cold Spring Harbor Laboratory Press , New York .
Hitte , C. , Madeoy , J. , Kirkness , E. F. , Priat , C. , Lorentzen , T. D. , Senger , F. ,
Thomas , D. , Derrien , T. , Ramirez , C. , Scott , C. , Evanno , G. , Pullar , B. ,
Cadieu , E. , Oza , V. , Lourgant , K. , Jaffe , D. B. , Tacher , S. ,
Dreano , S. , Berkova , N. , Andre , C. , Deloukas , P. , Fraser , C. ,
Lindblad-Toh , K. , Ostrander , E. A. , and Galibert , F. ( 2005 ).
Facilitating genome navigation: survey sequencing and dense radiation-hybrid
gene mapping . Nat. Rev. Genet. 6 ( 8 ) , 643 – 648 .
Ho , T. T. , Maguire , A. M. , Aguirre , G. D. , Surace , E. M. , Anand , V. ,
Zeng , Y. , Salvetti , A. , Hopwood , J. J. , Haskins , M. E. , and 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 .
Hodges , B. L. , and Cheng , S. H. ( 2006 ). Cell and gene-based therapies
for the lysosomal storage diseases . Curr. Gene Ther. 6 , 227 – 241 .
Hoogerbrugge , P. M. , Suzuki , K. , Suzuki , K. , Poorthuis , B. J. , Kobayashi , T. ,
Wagemaker , G. , and van Bekkum , D. W. (1988 ). Donor-derived cells
in the central nervous system of twitcher mice after bone marrow
transplantation . Science 239 , 1035 –1038 .