Mouse Models of Human CAG Repeat Disorders
| Autor: | Harry T. Orr, Eric N. Burright, H. B. Clark |
|---|---|
| Rok vydání: | 1997 |
| Předmět: |
Genetically modified mouse
congenital hereditary and neonatal diseases and abnormalities Spinocerebellar Ataxia Type 1 Disease Biology Pathology and Forensic Medicine Muscular Atrophy Spinal Pathogenesis Mice Trinucleotide Repeats medicine Animals Humans Gene Spinocerebellar Degenerations Genetics General Neuroscience Machado-Joseph Disease medicine.disease Disease Models Animal Spinal and bulbar muscular atrophy Huntington Disease Nerve Degeneration Original Article Neurology (clinical) Machado–Joseph disease |
| Zdroj: | Brain Pathol |
| ISSN: | 1750-3639 1015-6305 |
| Popis: | Expansions of CAG trinucleotide repeats encoding glutamine have been found to be the causative mutations of seven human neurodegenerative diseases. Similarities in the clinical, genetic, and molecular features of these disorders suggest they share a common mechanism of pathogenesis. Recent progress in the generation and characterization of transgenic mice expressing the genes containing expanded repeats associated with spinal and bulbar muscular atrophy (SBMA), spinocerebellar ataxia type 1 (SCA1), Machado‐Joseph disease (MJD/ SCA3), and Huntington's disease (HD) is beginning to provide insight into the underlying mechanisms of these neurodegenerative disorders. |
| Databáze: | OpenAIRE |
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