Kennedy disease

Journal of Inherited Metabolic Disease

Volumn 20, Issue 2, 1997, Pages 152-158

  Fischbeck, K H ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANDROGEN RECEPTOR; POLYGLUTAMIC ACID;

ANIMAL EXPERIMENT; ANIMAL MODEL; CONFERENCE PAPER; DEGENERATIVE DISEASE; HUMAN; HUNTINGTON CHOREA; KENNEDY DISEASE; MOTOR NEURON DISEASE; NERVE CELL CULTURE; NONHUMAN; PATHOGENESIS; PHENOTYPE; TRANSGENIC ANIMAL; TRINUCLEOTIDE REPEAT;

ANIMALS; HUMANS; MUSCULAR ATROPHY, SPINAL; PEPTIDE BIOSYNTHESIS; PEPTIDES;

EID: 0030980787     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005344403603     Document Type: Conference Paper

References (21)

1. Bingham PM, Scott MO, Wang S, et al (1995) Stability of an expanded trinucleotide repeat in the androgen receptor gene in transgenic mice. Nature Genet 9: 191-196.
2. Brooks BP, Paulson HL, Merry DE, et al (1997) Characterization of an expanded glutamine repeat androgen receptor in a neuronal cell culture system. Neurobiol Disease, in press.
3. Burright EN, Clark HB, Servadio A, et al (1995) SCA1 transgenic mice: a model for neurodegeneration caused by an expanded CAG trinucleotide repeat. Cell 82: 937-948.
4. Choong CS, Kemppainen JA, Zhou Z, Wilson EM (1996) Reduced androgen receptor gene expression with first exon CAG repeat expansion. Mol Endocrinol 10: 1527-1535.
5. Edwards A, Hammond HA, Jin L, et al (1992) Genetic variation at five trimeric and tetrameric tandem repeat loci in four human population groups. Genomics 12: 241-253.
6. Fischbeck KH, Ionasescu V, Ritter AW, et al (1986) Localization of the gene for X-linked spinal muscular atrophy. Neurology 36: 1595-1598.
7. Fischbeck KH, Souders D, La Spada A (1991) A candidate gene for X-linked spinal muscular atrophy. Adv Neurol 56: 209-213.
8. Harding AE, Thomas PK, Baraitser M, et al (1982) X-linked recessive bulbospinal neuronopathy: a report of ten cases. J Neurol Neurosurg Psychiatry 45: 1012-1019.
9. Huntington Disease Collaborative Research Group (1993) A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington disease chromosomes. Cell 72: 971-983.
10. Ikeda H, Yamaguchi M, Sugai S, et al (1996) Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo. Nature Genet 13: 196-202.
11. Kawaguchi Y, Okamoto T, Taniwaki M, et al (1994) CAG expansions in a novel gene for Machado -Joseph disease at chromosome 14q32.1. Nature Genet 8: 221-228.
12. Kennedy WR, Alter M, Sung JH (1968) Progressive proximal spinal and bulbar muscular atrophy of late onset: a sex-linked recessive trait. Neurology 18: 671-680.
13. Koide R, Ikeuchi O, Onodera O, et al (1994) Unstable expansion of CAG repeats in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nature Genet 6: 9-13.
14. La Spada A, Wilson EM, Lubahn DB, et al (1991) Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 352: 77-79.
15. La Spada AR, Roling D, Harding AE, et al (1992) Meiotic stability and genotype-phenotype correlation of the expanded trinucleotide repeat in X-linked spinal and bulbar muscular atrophy. Nature Genet 2: 301-304.
16. Mhatre AN, Trifiro MA, Kaufman M, et al (1993) Reduced transcriptional regulatory competence of the androgen receptor in X-linked spinal and bulbar muscular atrophy. Nature Genet 5: 184-187.
17. Orr HT, Chung M, Banfi S, et al (1993) Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nature Genet 4: 221-226.
18. Perutz MF, Johnson T, Suzuki M, Finch JT (1994) Glutamine repeats as polar zippers: their possible role in inherited neurodegenerative diseases. Proc Natl Acad Sci USA 91: 5355-5358.
19. Salazar-Grueso EF, Kim S, Kim H (1991) Embryonic mouse spinal cord motor neuron hybrid cells. Neuroreport 2: 505-508.
20. Sobue G, Hashizume Y, Mukai E, et al (1989) X-linked recessive bulbospinal neuronopathy. A clinicopathological study. Brain 112: 209-232.
21. Warner CL, Griffin JE, Wilson JD, et al (1992) X-linked spinomuscular atrophy: a kindred with associated abnormal receptor binding. Neurology 42: 2181-2184.