The parkin gene and its phenotype. Italian PD Genetics Study Group, French PD Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease
| Autor: | V. Bonifati, C. B. Lücking, A. Dürr, E. Fabrizio, G. Ambrosio, N. Vanacore, M. D. Mari, R. Marconi, L. Capus, M. M. Breteler, T. Gasser, B. Oostra, N. Wood, Y. Agid, G. Meco, A. Brice, F. P. D., DE MICHELE, GIUSEPPE, FILLA, ALESSANDRO |
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| Přispěvatelé: | V., Bonifati, DE MICHELE, Giuseppe, C. B., Lücking, A., Dürr, E., Fabrizio, G., Ambrosio, N., Vanacore, M. D., Mari, R., Marconi, L., Capu, M. M., Breteler, T., Gasser, B., Oostra, N., Wood, Y., Agid, Filla, Alessandro, G., Meco, A., Brice, F. P., D. |
| Jazyk: | angličtina |
| Rok vydání: | 2001 |
| Předmět: |
Ubiquitin-Protein Ligases
genetics DNA Mutational Analysis Exon DNA Mutational Analysis Brain Chromosome Mapping Exons Antiparkinson Agents Ligases therapeutic use Brain Phenotype genetics/pathology/physiopathology Phenotype Point Mutation Parkinsonian Disorders pathology/physiopathology Chromosome Mapping Chromosome Humans Point Mutation Chromosomes Human Pair 6 genetics/metabolism Parkinsonian Disorder Genetic Testing Age of Onset Antiparkinson Agent Pair 6 Age of Onset genetics Genetic Testing Humans Ligase genetics Ubiquitin-Protein Ligases Human |
| Popis: | Mutations of the parkin gene on chromosome 6 cause autosomal recessive, early onset parkinsonism. This is the most frequent form of monogenic parkinsonism so far identified. The associated phenotypical spectrum encompasses early onset, levodopa-responsive parkinsonism (average onset in the early 30s in Europe), and it overlaps with dopa-responsive dystonia in cases with the earliest onset, and with clinically typical Parkinson's disease in cases with later onset. Despite clinical features, Lewy bodies are not found at autopsy in brains of patients with parkin mutations. The parkin protein possesses ubiquitin ligase activity, which is abolished by the pathogenic mutations. |
| Databáze: | OpenAIRE |
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