Molecular basis of globoid cell leukodystrophy in Irish setters

Veterinary Journal

Volumn 171, Issue 2, 2006, Pages 370-372

  McGraw, Royal A ^a   Carmichael, K Paige ^a  

^a UNIVERSITY OF GEORGIA   (United States)

Author keywords

Canine; Galactocerebrosidase; Globoid; Leukodystrophy; Mutation

Indexed keywords

COMPLEMENTARY DNA; GALACTOSYLCERAMIDASE; SMALL NUCLEAR RNA;

ANIMAL CELL; ANIMAL TISSUE; ARTICLE; BASE PAIRING; CONTROLLED STUDY; DNA SEQUENCE; DOG DISEASE; GENE DUPLICATION; GENE INSERTION; GENE MUTATION; GLOBOID CELL LEUKODYSTROPHY; MOLECULAR GENETICS; NONHUMAN; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION;

ANIMALS; BASE SEQUENCE; DOG DISEASES; DOGS; GALACTOSYLCERAMIDASE; LEUKODYSTROPHY, GLOBOID CELL; MOLECULAR SEQUENCE DATA; MUTATION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA; SEQUENCE ANALYSIS, DNA;

ANIMALIA; CANIS FAMILIARIS;

EID: 32944472893     PISSN: 10900233     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.tvjl.2004.10.019     Document Type: Article

References (25)

1. S.F. Altschul T.L. Madden A.A. Schäffer J. Zhang Z. Zhang W. Miller D.J. Lipman Gapped BLAST and PSI-BLAST: A new generation of protein database search programs Nucleic Acids Research 25 1997 3389-3402
2. I. Bjerkas Hereditary leukodystrophy in Dalmatian dogs in Norway Norsk Veterinaertidsskrift 91 1979 167-170
3. B.G. Boysen L. Tryphonas N.W. Harries Globoid cell leukodystrophy in the Bluetick Hound dog. I. Clinical manifestations Canadian Veterinary Journal 15 1974 303-308
4. Carmichael, K.P., 1998. Globoid cell leukodystrophy in a litter of Irish Setters. Irish Setter Club of America, Inc., Memo to Members, April 1998. p. 27.
5. Y.Q. Chen M.A. Rafi G. de Gala D.A. Wenger Cloning and expression of cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy Human Molecular Genetics 2 1993 1841-1845
6. G.R. Johnson J.E. Oliver R. Selcer Globoid cell leukodystrophy in a Beagle Journal of the American Veterinary Medical Association 167 1975 380-384
7. K.H. Johnson Globoid leukodystrophy in the cat Journal of the American Veterinary Medical Association 157 1970 2057-2064
8. W.J. Kleijer J.L. Keulemans M. van der Kraan G.G. Geilen R.M. van der Helm M.A. Rafi P. Luzi D.A. Wenger D. Halley O.P. van Diggelen Prevalent mutations in the GALC gene of patients with Krabbe disease of Dutch and other European origin Journal of Inherited Metabolic Diseases 20 1997 587-594
9. T. Kobayashi T. Yamanaka J.M. Jacobs F. Teixeira K. Suzuki The Twitcher mouse: An enzymatically authentic model of human globoid cell leukodystrophy (Krabbe disease) Brain Research 202 1980 479-483
10. E. Louie M.A. Rafi D.A. Wenger Leukocyte sonicates as a source for both enzyme assay and DNA amplification for mutational analysis of certain lysosomal disorders Clinica Chimica Acta 199 1991 7-15
11. P. Luzi M.A. Rafi T. Victoria G.B. Baskin D.A. Wenger 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 1997 319-324
12. P. Luzi M.A. Rafi D.A. Wenger Characterization of the large deletion in the GALC gene found in patients with Krabbe disease Human Molecular Genetics 4 1995 2335-2338
13. P. Luzi M.A. Rafi D.A. Wenger Structure and organization of the human galactocerebrosidase (GALC) gene Genomics 26 1995 407-409
14. D.H. Pritchard D.V. Napthine A.J. Sinclair Globoid cell leukodystrophy in polled Dorset sheep Veterinary Pathology 17 1980 399-405
15. M.A. Rafi P. Luzi J. Zlotogora D.A. Wenger Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations of Israel Human Genetics 97 1996 304-308
16. N. Sakai K. Inui N. Tatsumi R. Fukushima T. Nishigaki M. Taniike J. Nishimoto H. Tsukamoto I. Yanagihara K. Ozono S. Okada Molecular cloning and expression of cDNA for murine galactocerebrosidase and mutation analysis of the twitcher mouse, a model of Krabbe's disease Journal of Neurochemistry 66 1996 1118-1124
17. J. Sambrook E.F. Fritsch T. Maniatis Molecular Cloning: A Laboratory Manual second ed. 1989 Cold Spring Harbor Laboratory Press New York
18. C.J. Sigurdson R.J. Basaraba E.M. Mazzaferro D.H. Gould Globoid cell-like leukodystrophy in a domestic longhaired cat Veterinary Pathology 39 2002 494-496
19. K. Suzuki W.D. Grover Krabbe's leukodystrophy (globoid cell leukodystrophy). An ultrastructural study American Journal of Obstetrics and Gynecology 106 1970 385-396
20. K. Suzuki K. Suzuki Genetic galactosylceramidase deficiency (globoid cell leukodystrohy, Krabbe disease) in different mammalian species Neurochemical Pathology 3 1985 53-68
21. K. Suzuki Y. Suzuki Globoid cell leukodystrophy (Krabbe's disease): deficiency of galactocerebroside β-galactosidase Proceedings of the National Academy of Sciences USA 66 1970 302-309
22. T. Victoria M.A. Rafi D.A. Wenger Cloning of the canine GALC cDNA and identification of the mutation causing globoid cell leukodystrophy in West Highland White and Cairn Terriers Genomics 33 1996 457-462
23. D.A. Wenger M.A. Rafi P. Luzi Molecular genetics of Krabbe disease (globoid cell leukodystrophy): Diagnostic and clinical implications Human Mutation 10 1997 268-279
24. D.A. Wenger M. Sattler C. Clark H. McKelvey An improved method for the identification of patients and carriers of Krabbe's disease Clinica Chimica Acta 56 1974 199-206
25. F.A. Zaki W.L. Kay Globoid cell leukodystrophy in a Miniature Poodle Journal of the American Veterinary Medical Association 163 1973 248-250