Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism
Tóm tắt
Từ khóa
Tài liệu tham khảo
Parkinson, J. An Essay on the Shaking Palsy(Whittingham and Rowland, London, (1817).
Yamamura, Y., Arihiro, K., Kohriyama, T. & Nakamura, S. Early-onset parkinsonism with diurnal fluctuation-clinical and pathological studies. Clin. Neurol. (Tokyo) 33, 491–496 (1993).
Ishikawa, A. & Tsuji, S. Clinical analysis of 17 patients in 12 Japanese families with autosomal recessive type juvenile parkinsonism. Neurology 47, 160–166 (1996).
Matsumine, H.et al. Localization of a gene for autosomal recessive form of juvenile parkinsonism (AR-JP) to chromosome 6q25.2-27. Am. J. Hum. Genet. 60, 588–596 (1997).
Matsumine, H.et al. Evidence for a microdeletion of D6S305 in a family of autosomal recessive juvenile parkinsonismin (AR-JP). Genomics(in the press).
Saurin, A. J., Borden, K. L. B., Boddy, M. N. & Freemont, P. S. Does this have a familiar RING? Trends Biochem. Sci. 21, 208–214 (1996).
Aasland, R., Gibson, T. J. & Stewart, A. F. The PHD finger: implications for chromatin-mediated transcriptional regulation. Trends Biochem. Sci. 20, 56–59 (1996).
Takahashi, H.et al. Familial juvenile parkinsonism: clinical and pathologic study in a family. Neurology 44, 437–441 (1994).
Jenner, P., Schapira, A. H. V. & Marsden, C. D. New insights into the cause of Parkinson's disease. Neurology 42, 2241–2250 (1992).
Schapira, A. H. V.et al. Mitochondrial complex I deficiency in Parkinson's disease. J. Neurochem. 54, 823–827 (1990).
Mizuno, Y.et al. Role of mitochondria in the etiology and pathogenesis of Parkinson's disease. Biochim. Biophys. Acta 1271, 265–274 (1995).
Polymeropoulos, M. H.et al. Mutation in α-synuclein gene identified in families with Parkinson's disease. Science 276, 2045–2047 (1997).
Mori, H., Kondo, J. & Ihara, Y. Ubiquitin is a component of paired helical filaments in Alzheimer's disease. Science 235, 1641–1644 (1987).
Morishima-Kawashima, M.et al. Ubiquitin is conjugated with amino-terminally processed tau in paired helical filaments. Neuron 10, 1151–1160 (1993).
Gregori, L., Fuchs, C., Figueiredo-Pereira, M. E., Nostrand, W. E. V. & Goldgaber, D. Amyloid β-protein inhibits ubiquitin-dependent protein degradation in vitro. J. Biol. Chem. 270, 19702–19708 (1995).
Love, S., Saitoh, T., Quijada, S., Cole, G. M. & Terry, R. D. Alz-50, ubiquitin and Tau immunoreactivity of neurofibrillary tangles, Pick bodies and Lewy bodies. J. Neuropathol. Exp. Neurol. 47, 393–405 (1988).
Galloway, P. G., Mulvihill, O. & Perry, G. Filaments of Lewy bodies contain insoluble cytoskeletal elements. Am. J. Pathol. 140, 809–822 (1922).
Iwatsubo, T.et al. Purification and characterization of Lewy bodies from the brains of patients with diffuse Lewy body disease. Am. J. Pathol. 148, 1517–1529 (1996).
Hochstrasser, M. Ubiquitin, proteasomes, and the regulation of intracellular protein degradation. Curr. Opin. Cell Biol. 7, 215–223 (1995).
Gregori, L., Poosch, M. S., Cousins, G. & Chau, V. Auniform isopeptide-linked multiubiquitin chain is sufficient to target substrate for degradation in ubiquitin-mediated proteolysis. J. Biol. Chem. 265, 8354–8357 (1990).
Finley, D., Bartel, B. & Varshavsky, A. The tails of ubiquitin precursors are ribosomal proteins whose fusion to ubiquitin facilitates ribosome biogenesis. Nature 338, 394–401 (1989).
Sambrook, J., Fritsch, E. F. & Maniatis, T. Molecular Cloning: A Laboratory Manual(Cold Spring Harbor Laboratory Press, Cold Spring Harbor, New York, (1989).