The parkin gene and its phenotype

Neurological Sciences

Volumn 22, Issue 1, 2001, Pages 51-52

  Bonifati, V ^a   De Michele, G ^b   Lucking C B ^c   Durr A ^c   Fabrizio, E ^a   Ambrosio, G ^b   Vanacore, N ^a   De Mari, M ^h   Marconi, R ^d   Capus, L ^h   Breteler, M M B ^e   Gasser, T ^f   Oostra, B ^e   Wood, N ^g   Agid, Y ^c   Filla, A ^b   Meco, G ^a   Brice, A ^c  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

^b UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^c PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^d MISERICORDIA HOSPITAL   (Italy)

^e ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

^f LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^g UNIVERSITY COLLEGE LONDON   (United Kingdom)

^h NONE

Author keywords

[No Author keywords available]

Indexed keywords

ANTIPARKINSON AGENT; LIGASE; PARKIN; UBIQUITIN PROTEIN LIGASE;

ARTICLE; BRAIN; CHROMOSOME 6; CHROMOSOME MAP; CLINICAL TRIAL; EXON; GENETIC SCREENING; GENETICS; HUMAN; METABOLISM; MULTICENTER STUDY; NUCLEOTIDE SEQUENCE; ONSET AGE; PARKINSONISM; PATHOLOGY; PATHOPHYSIOLOGY; PHENOTYPE; POINT MUTATION;

AGE OF ONSET; ANTIPARKINSON AGENTS; BRAIN; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 6; DNA MUTATIONAL ANALYSIS; EXONS; GENETIC SCREENING; HUMANS; LIGASES; PARKINSONIAN DISORDERS; PHENOTYPE; POINT MUTATION; UBIQUITIN-PROTEIN LIGASES;

EID: 18044402592     PISSN: 15901874     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100720170042     Document Type: Article

References (12)

1. Zhang Y, Dawson VL, Dawson TM (2000) Oxidative stress and genetics in the pathogenesis of Parkinson's disease. Neurobiol Dis 7:240-250
2. Matsumine H, Saito M, Shimoda-Matsubayashi S et al (1997) Localization of a gene for an autosomal recessive form of juvenile parkinsonism to chromosome 6q25.2-27. Am J Hum Genet 60:588-596
3. Tassin J, Dürr A, de Broucker T et al (1998) Chromosome 6-linked autosomal recessive early-onset parkinsonism: linkage in European and Algerian families, extension of the clinical spectrum, and evidence of a small homozygous deletion in one family. Am J Hum Genet 63:88-94
4. Kitada T, Asakawa S, Hattori N et al (1998) Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature 392:605-608
5. Abbas N, Lücking CB, Ricard S et al (1999) A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. Hum Mol Genet 8:567-574
6. Lücking CB, Dürr A, Bonifati V et al (2000) Association between early-onset Parkinson's disease and mutations in the parkin gene. New Engl J Med 342:1560-1567
7. Periquet M, Lücking C, Vaughan J et al (2001) Origin of the mutations in the parkin gene in Europe - exon rearrangements are indipendent recurrent events, whereas point mutations may result from founder effects. Am J Human Genet 68:617-621
8. Mori H, Kondo T, Yokochi M et al (1998) Pathologic and biochemical studies of juvenile parkinsonism linked to chromosome 6q. Neurology 51:890-892
9. Klein C, Pramstaller PP, Kis B et al (2000) Parkin deletions in a family with adult-onset, tremor-dominant parkinsonism: expanding the phenotype. Ann Neurol 48:65-71
10. Tassin J, Dürr A, Bonnet AM et al (2000) Levodopa-responsive dystonia. GTP cyclohydrolase 1 or parkin mutations? Brain 123:1112-1121
11. Maruyama M, Ikeuchi T, Saito M et al (2000) Novel mutations, pseudo-dominant inheritance, and possible familial affects in patients with autosomal recessive juvenile parkinsonism. Ann Neurol 48:245-250
12. Shimura H, Hattori N, Kubo S et al (2000) Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase. Nat Genet 25:302-305