PARKIN as a pathogenic gene for autosomal recessive juvenile parkinsonism

Journal of Neural Transmission, Supplement

Volumn 58, Issue , 2000, Pages 19-30

  Shimizu, N ^a   Asakawa, S ^a   Minoshima, S ^a   Kitada, T ^a,b   Hattori, N ^b   Matsumine, H ^b   Yokochi, M ^c   Yamamura, Y ^d   Mizuno, Y ^b  

^a KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b JUNTENDO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c Department of Dentistry Oral surgery   (Japan)

^d HIROSHIMA UNIV SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; PARKIN; UNCLASSIFIED DRUG;

AUTOSOMAL RECESSIVE DISORDER; CLINICAL FEATURE; CONFERENCE PAPER; ETHNOLOGY; GENE MUTATION; HUMAN; NERVE CELL DEGENERATION; PARKINSON DISEASE; PARKINSONISM; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN STRUCTURE;

AMINO ACID MOTIFS; BASE SEQUENCE; CLONING, MOLECULAR; GENE EXPRESSION; GENES, RECESSIVE; HUMANS; LIGASES; MUTATION; PARKINSONIAN DISORDERS; UBIQUITIN-PROTEIN LIGASES;

EID: 0033677935     PISSN: 03036995     EISSN: None     Source Type: Journal    
DOI: 10.1007/978-3-7091-6284-2_2     Document Type: Article

References (32)

1. Human BAC library: Construction and screening
2. Aetiology of Parkinson's disease
3. The ubiquitin-proteasome proteolytic pathway
4. The tails of ubiquitin precursors are ribosomal proteins whose fusion to ubiquitin facilitates ribosome biogenesis
5. Filaments of Lewy bodies contain insoluble cytoskeletal elements
6. Genetics of Parkinson's disease
7. A uniform isopeptide-linked multiubiquitin chain is sufficient to target substrate for degradation in ubiquitin-mediated proteolysis
8. Amyloid b-protein inhibits ubiquitin-dependent protein degradation in vitro
9. Molecular genetic analysis of a novel Parkin gene in Japanese families with AR-JP: Evidence for variable homozygous deletions in the parkin gene in affected individuals
10. Point mutations (Thr240Arg and Gln311Stop) in the Parkin gene
11. Ubiquitin, proteasomes, and the regulation of intracellular protein degradation
12. Clinical analysis of 17 patients in 12 Japanese families with autosomal recessive type juvenile parkinsonism
13. Purification and characterization of Lewy bodies from the brains of patients with diffuse Lewy body disease
14. New insights into the cause of Parkinson's disease
15. Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism
16. Ala30Pro mutation in the gene encoding a-synuclein in Parkinson's disease
17. The ubiquitin pathway in Parkinson's disease
18. Deletions in the Parkin gene and genetic heterogeneity in a Greek family with early onset Parkinson's disease
19. Localization of a gene for autosomal rcessive form of juvenile parkinsonism (AR-JP) to chromosome 6q25.2-27
20. A microdeletion of D6S305 in a family of autosomal recessive juvenile parkinsonism (PARK2)
21. Alpha synuclein in neurodegenerative disorders: Murderer or accomplice?
22. Ubiquitin is a component of paired helical filaments in Alzheimer's disease
23. Ubiquitin is conjugated with amino-terminally processed tau in paired helical filaments
24. Casein kinase 2: An 'eminence grise' in cellular regulation?
25. Mapping of a gene for Parkinson's disease to chromosome 4q21-q23
26. Mutations in the a-synuclein gene identified in families with Parkinson's disease
27. Genetic dissection of familial Parkinson's disease
28. Human genome project: Current status. Keio strategy, and prospects
29. Immunohistochemical and subcellular localization of parkin protein: Absence of protein in autosomal recessive juvenile parkinsonism patients
30. Familial juvenile parkinsonism: Clinical and pathologic study in a family
31. Early-onset parkinsonism with diurnal fluctuation-clinical and pathological studies