A gene-targeted mouse model for chorea-acanthocytosis

Journal of Neurochemistry

Volumn 92, Issue 4, 2005, Pages 759-766

  Tomemori, Yuko ^a   Ichiba, Mio ^a   Kusumoto, Akira ^a   Mizuno, Emiko ^a   Sato, Daisuke ^a   Muroya, Shinji ^a   Nakamura, Masayuki ^a   Kawaguchi, Hiroaki ^a   Yoshida, Hiroki ^a   Ueno, Shu Ichi ^b   Nakao, Kazuki ^c   Nakamura, Kenji ^d   Aiba, Atsu ^e   Katsuki, Motoya ^f   Sano, Akira ^a  

^a KAGOSHIMA UNIVERSITY   (Japan)

^b UNIVERSITY OF TOKUSHIMA   (Japan)

^c RIKEN   (Japan)

^d MITSUBISHI KAGAKU INSTITUTE OF LIFE SCIENCES   (Japan)

^e KOBE UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^f NATIONAL INSTITUTE FOR BASIC BIOLOGY   (Japan)

Author keywords

CHAC; Chorea acanthocytosis; Chorein; Gene targeted mouse model; Neurodegeneration

Indexed keywords

COMPLEMENTARY DNA; DOPAMINE;

ACANTHOCYTOSIS; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; APOPTOSIS; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHOREA; CONTROLLED STUDY; CORPUS STRIATUM; DELETION MUTANT; DNA SEQUENCE; EXON; GENE STRUCTURE; GENE TARGETING; GENETIC ASSOCIATION; INTRON; LOCOMOTION; MALE; MESENCEPHALON; MOTOR DYSFUNCTION; MOUSE; NERVE DEGENERATION; NEUROCHEMISTRY; NONHUMAN; NUCLEOTIDE SEQUENCE; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; RECESSIVE GENE; SOCIAL INTERACTION;

ACANTHOCYTES; ANIMALS; CHOREATIC DISORDERS; CLONING, MOLECULAR; DISEASE MODELS, ANIMAL; DNA, COMPLEMENTARY; GENE TARGETING; HUMANS; MICE; MICE, INBRED C57BL; MICE, NEUROLOGIC MUTANTS; MOLECULAR SEQUENCE DATA; NERVE TISSUE PROTEINS; PROTEINS; SYNDROME; VESICULAR TRANSPORT PROTEINS;

EID: 13644263163     PISSN: 00223042     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1471-4159.2004.02924.x     Document Type: Article

References (21)

1. Becker P. S. and Lux S. E. (1995) Hereditary spherocytosis and hereditary elliptocytosis, in The Metabolic Basis of Inherited Disease (Scriver C. R. and Beaudet A. L., eds), pp. 3513-3560. McGraw-Hill, New York.
2. Brickner J. H. and Fuller R. S. (1997) SOI1 encodes a novel conserved protein that promotes TGN-endosomal cycling of Kex2p and other membrane proteins by modulating the function of two TGN localization signals. J. Cell Biol. 139, 23-36.
3. Brin M. F. (1993) Acanthocytosis, in Handbook of Clinical Neurology (Goetz C. G., Tanner C. M. and Aminoff M. J., eds), Vol. 63, pp. 271-299. Elsevier Science B.V., Amsterdam.
4. Carter R. J., Lione L. A., Humby T. et al. (1999) Characterization of progressive motor deficits in mice transgenic for the human Huntington's disease mutation. J. Neurosci. 19, 3248-3257.
5. Hardie R. J., Pullon H. W., Harding A. E. et al. (1991) Neuroacanthocytosis. A clinical, haematological and pathological study of 19 cases. Brain 114, 13-49.
6. Kageyama Y., Kodama Y., Tadano M., Yamamoto S. and Ichikawa K. (2000) A case of chorea-acanthocytosis with dilated cardiomyopathy and myopathy. Rinsho Shinkeigaku 40, 816-820.
7. Koera K., Nakamura K., Nakao K., Miyoshi J., Toyoshima K., Hatta T., Otani H., Aiba A. and Katsuki M. (1997) K-Ras is essential for the development of the mouse embryo. Oncogene 15, 1151-1159.
8. Lin C. H., Tallaksen-Greene S., Chien W. M., Cearley J. A., Jackson W. S., Crouse A. B., Ren S., Li X. J., Albin R. L. and Detloff P. J. (2001) Neurological abnormalities in a knock-in mouse model of Huntington's disease. Hum. Mol. Genet. 10, 137-144.
9. McIlwain H. and Voaden M. J. (1975) Dissection of the brain to regional blocks, in Practical Neurochemistry (McIlwain H., ed.), pp. 284-289. Churchill Livingstone, New York.
10. Menalled L. B., Sison J. D., Wu Y. et al. (2002) Early Motor dysfunction and striosomal distribution of huntingtin Micro aggregates in Huntington's disease Knock-in Mice. J. Neursci. 22, 8266-8276.
11. Palek J. (1991) Red cell membrane disorders, in Hematology: Basic Principles and Practice (Hoffman R., Benz E. J. Jr, Furie B., Shattil S., Cohen H., eds), pp. 472-504. Churchill Livingstone, New York.
12. Rampoldi L., Dobson-Stone C., Rubio J. P. et al. (2001) A conserved sorting-associated protein is mutant in chorea-acanthocytosis. Nat. Genet. 28, 119-120.
13. Rampoldi L., Danek A. and Monaco A. P. (2002) Clinical features and molecular bases of neuroacanthocytosis. J. Mol. Med. 80, 475-491.
14. Reddy P. H., Williams M., Charles V., Garrett L., Pike-Buchanan L., Whetsell W. O. Jr, Miller G. and Tagle D. A. (1998) Behavioural abnormalities and selective neuronal loss in HD transgenic mice expressing mutated full-length HD cDNA. Nat. Genet. 20, 198-202.
15. Reynolds G. P. and Pearson S. J. (1987) Decreased glutamic acid and increased 5-hydroxytryptamine in Huntington's disease brain. Neurosci. Lett. 78, 233-238.
16. Reynolds G. P., Dalton C. F., Tillery C. L., Mangiarini L., Davies S. W. and Bates G. P. (1999) Brain neurotransmitter deficits in mice transgenic for the Huntington's disease mutation. J. Neurochem. 72, 1773-1776.
17. Rinne J. O., Daniel S. E., Scaravilli F., Harding A. E. and Marsden C. D. (1994) Nigral degeneration in neuroacanthocytosis. Neurology 44, 1629-1632.
18. Try K. (1980) Lineation of the osmotic fragility curve of erythrocytes. Scand. J. Haematol. 24, 157-161.
19. Ueno S., Maruki Y., Nakamura M., Tomemori Y., Kamae K., Tanabe H., Yamashita Y., Matsuda S., Kaneko S. and Sano A. (2001) The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis. Nat Genet. 28, 121-122.
20. Yagi T., Nada S., Watanabe N., Tamemoto H., Kohmura N., Ikawa Y. and Aizawa S. (1993) A novel negative selection for homologous recombinants using diphtheria toxin A fragment gene. Anal. Biochem. 214, 77-86.
21. de Yebenes J. G., Brin M. F., Mena M. A. et al. (1988) Neurochemical findings in neuroacanthocytosis. Mov. Disord. 3, 300-312.