Analysis of deletion mutations in the PARK2 gene in idiopathic Parkinson's disease

Genetika

Volumn 39, Issue 2, 2003, Pages 223-228

  Slominsky, P A ^a   Miloserdova, O V ^a   Popova, S N ^b,c   Gilyazova, I R ^b,c   Khidiyatova, I V ^b,c   Magzhanov, R V ^b,c   Khusnutdinova, E K ^b,c   Limborska, S A ^a  

^a INSTITUTE OF MOLECULAR GENETICS   (Russian Federation)

^b INSTITUTE OF BIOCHEMISTRY AND GENETICS   (Russian Federation)

^c BASHKIR STATE MEDICAL UNIVERSITY   (Russian Federation)

Author keywords

[No Author keywords available]

Indexed keywords

PARKIN; LIGASE; UBIQUITIN PROTEIN LIGASE;

ARTICLE; EXON; GENE DELETION; GENE DUPLICATION; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; IDIOPATHIC DISEASE; PARKINSON DISEASE; POLYMERASE CHAIN REACTION; RUSSIAN FEDERATION; COMPUTER ASSISTED DIAGNOSIS; FEMALE; GENETICS; HETEROZYGOTE; MALE; METHODOLOGY; MIDDLE AGED; NUCLEOTIDE SEQUENCE;

BASHKIRIA; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; HETEROZYGOTE; HUMANS; IMAGE INTERPRETATION, COMPUTER-ASSISTED; LIGASES; MALE; MIDDLE AGED; PARKINSON DISEASE; POLYMERASE CHAIN REACTION; SEQUENCE DELETION; UBIQUITIN-PROTEIN LIGASES;

EID: 0037712899     PISSN: 00166758     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (26)

1. de Rijk M.C., Tzourio C., Breteler M.M. et al. Prevalence of parkinsonism and Parkinson's disease in Europe: The EUROPARKINSON Collaborative Study. European Community Concerted Action on the Epidemiology of Parkinson's disease // J. Neurol. Neurosurg. Psychiat. 1997. V. 62. P. 10-15.
2. Wood N. Genes and parkinsonism // J. Neurol. Neurosurg. Psychiat. 1997. V. 62. P. 305-309.
3. Polymeropoulos M.H., Lavedan C., Leroy E. et al. Mutation in the alpha-synuclein gene identified in families with Parkinson's disease // Science. 1997. V. 276. P. 2045-2047.
4. Krüger R., Kulm W., Müller T. et al. Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease // Nature Genet. 1998. V. 18. P. 106-108.
5. Vaughan J.R., Fairer M.J., Wszolek P. et al. Sequencing of the alpha-synuclein gene in a large series of cases of familial Parkinson's disease fails to reveal any further mutations: The European Consortium on Genetic Susceptibility in Parkinson's Disease (GSPD) // Hum. Mol. Genet. 1998. V. 7. P. 751-753.
6. The French Parkinson's Disease Study Group. Alpha-synuclein gene and Parkinson's disease // Science. 1998. V. 279. P. 1116-1117.
7. Farrer M., Wavrant-De Vrieze F., Crook R. et al. Low frequency of alpha-synuclein mutations in familial Parkinson's disease // Ann. Neurol. 1998. V. 43. P. 394-397.
8. Ishikawa A., Tsuji S. Clinical analysis of 17 patients in 12 Japanese families with autosomal-recessive type juvenile parkinsonism // Neurology. 1996. V. 47. P. 160-166.
9. Takahashi H., Ohama E., Suzuki S. et al. Familial juvenile parkinsonism: clinical and pathologic study in a family // Neurology. 1994. V. 44. P. 437-441.
10. Mori H., Kondo T., Yokochi M. et al. Pathologic and biochemical studies of juvenile parkinsonism linked to chromosome 6q // Neurology. 1998. V. 51 P. 890-892.
11. Kitada T., Asakawa S., Hattori N. et al. Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism // Nature. 1998. V. 392. P. 605-608.
12. Imai Y., Soda M., Takahashi R. Parkin suppresses unfolded protein stress-induced cell death through its E3 ubiquitin-protein ligase activity // J. Biol. Chem. 2000. V. 275. P. 35661-35664.
13. Shimura H., Hattori N., Kubo S. et al. Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase // Nat. Genet. 2000. V. 25. P. 302-305.
14. Zhang Y., Gao J., Chung K.K. et al. Parkin functions as an E2-dependent ubiquitin-protein ligase and promotes the degradation of the synaptic vesicle-associated protein, CDCrel-1 // Proc. Natl Acad. Sci. USA. 2000. V. 97. P. 13354-13359.
15. Lücking C.B., Abbas N., Durr A. et al. Homozygous deletions in parkin gene in European and North African families with autosomal recessive juvenile parkinsonism // Lancet. 1998. V. 352. P. 1355-1356.
16. Abbas N., Lücking C.B., Ricard S. et al. A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe // Hum. Mol. Genet. 1999. V. 8. P. 567-574.
17. Leroy E., Anastasopoulos D., Konitsiotis S. et al. Deletions in the Parkin gene and genetic heterogeneity in a Greek family with early-onset Parkinson's disease // Hum. Genet. 1998. V. 103. P. 424-427.
18. Nisipeanu P., Inzelberg R., Blumen S.C. et al. Autosomal-recessive juvenile parkinsonism in a Jewish Yemenite kindred: mutation of Parkin gene // Neurology. 1999. V. 53. P. 1602-1604.
19. Klein C., Pramstaller P.P., Kis B. et al. Parkin deletions in a family with adult-onset, tremor-dominant parkinsonism: expanding the phenotype // Ann. Neurol. 2000. V. 48. P. 65-71.
20. Hilker R., Klein C., Ghaemi M. et al. Positron emission tomographic analysis of the nigrostriatal dopaminergic system in familial parkinsonism associated with mutations in the parkin gene // Ann. Neurol. 2001. V. 49. P. 367-376.
21. Sambrook J., Fritsch E.F., Maniatis T. Molecular Cloning. N. Y.: Cold Spring Harbor Lab. Press, 1989. P. 923-940.
22. http://www.gdb.org/gdb-bin/genera/genera/hgd/Gene?!key =GDB:6802742&! ShortDetail =1&!sub=0&_expand= amplimers#amplimers
23. Maruyama M., Ikeuchi T., Saito M. et al. Novel mutations, pseudo-dominant inheritance, and possible familial affects in patients with autosomal recessive juvenile parkinsonism // Ann. Neurol. 2000. V. 48 P. 245-250.
24. Hedrich K., Kann M., Lanthaler A.J. et al. The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism // Human Molec. Genet. 2001. V. 10. P. 1649-1656.
25. Mizuno Y., Hattori N., Mori H. et al. Parkin and Parkinson's disease // Curr. Opin. Neurol. 2001. V. 14. P. 477-482.
26. Lücking C.B., Durr A., Bonifati V. et al. Association between early-onset Parkinson's disease and mutations in the parkin gene // N. Engl. J. Med. 2000. V. 342. P. 1560-1567.