| Autor: |
Zimdahl, H., Gösele, C., Lütjens, G., Grützner, F., Kreitler, T., Voss, K., Wanker, E., Knoblauch, M. |
| Předmět: |
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| Zdroj: |
Cytogenetics & Cell Genetics; Jul2001, Vol. 94 Issue 1/2, p101-104, 4p |
| Abstrakt: |
Huntington's disease (HD) is a progressive neurodegenerative disorder inherited in an autosomal dominant fashion, characterized by motor abnormalities, cognitive impairment and psychiatric disturbances. Huntington's disease is caused by an increased Cytosine Adenine Gaunine (CAG) repeat number in a gene coding for a protein called huntington. The trinucleotide CAG codes for the amino acid glutamine and the expanded CAG repeat is translated into an unbroken glutamine stretch. The development of the disease phenotype is related to the aggregation of the HD gene products in the cytoplasm. |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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