Homozygous PINK1 C-terminus mutation causing early-onset parkinsonism

Annals of Neurology

Volumn 56, Issue 3, 2004, Pages 427-431

  Rohé, Christan F ^a   Montagna, Pasquale ^b   Breedveld, Guido ^a   Cortelli, Pietro ^b   Oostra, Ben A ^a   Bonifati, Vincenzo ^a,c  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF BOLOGNA   (Italy)

^c SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ALPRAZOLAM; BENZODIAZEPINE DERIVATIVE; LEVODOPA; MITOCHONDRIAL DNA; PRAMIPEXOLE; PROTEIN KINASE; TRICYCLIC ANTIDEPRESSANT AGENT;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CATALYSIS; DRUG EFFECT; DYSKINESIA; DYSTONIA; FOOT; GENE; GENE MUTATION; HOMOZYGOSITY; HUMAN; MARKER GENE; NUCLEOTIDE SEQUENCE; ONSET AGE; PARK6 GENE; PARKIN GENE; PARKINSONISM; PHENOTYPE; PINK1 GENE; PRIORITY JOURNAL; PROTEIN DOMAIN; SCHOOL CHILD;

ADULT; AGE OF ONSET; AGED; AMINO ACID SEQUENCE; FEMALE; HOMOZYGOTE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PARKINSONIAN DISORDERS; PEDIGREE; PEPTIDE FRAGMENTS; PROTEIN KINASES;

EID: 4444269012     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.20247     Document Type: Article

References (17)

1. Dawson TM, Dawson VL. Molecular pathways of neurodegeneration in Parkinson's disease. Science 2003;302:819-822.
2. Marder K, Levy G, Louis ED, et al. Familial aggregation of early- and late-onset Parkinson's disease. Ann Neurol 2003;54: 507-513.
3. Kitada T, Asakawa S, Hattori N, et al. Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature 1998;392:605-608.
4. Lucking CB, Durr A, Bonifati V, et al. Association between early-onset Parkinson's disease and mutations in the parkin gene. N Engl J Med 2000;342:1560-1567.
5. Bonifati V, Rizzu P, van Baren MJ, et al. Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science 2003;299:256-259.
6. Abou-Sleiman PM, Healy DG, Quinn N, et al. The role of pathogenic DJ-1 mutations in Parkinson's disease. Ann Neurol 2003;54:283-286.
7. Hague S, Rogaeva E, Hernandez D, et al. Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation. Ann Neurol 2003;54:271-274.
8. Hedrich K, Djarmati A, Schafer N, et al. DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease. Neurology 2004;62:389-394.
9. Valente EM, Abou-Sleiman PM, Caputo V, et al. Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science 2004;304:1158-1160.
10. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215.
11. Bonifati V, Breedveld GJ, Squitieri F, et al. Localization of autosomal recessive early-onset parkinsonism to chromosome 1p36 (PARK7) in an independent dataset. Ann Neurol 2002; 51:253-256.
12. Gregersen N, Bross P, Jorgensen MM, et al. Defective folding and rapid degradation of mutant proteins is a common disease mechanism in genetic disorders. J Inherit Metab Dis 2000;23: 441-447.
13. Macedo MG, Anar B, Bronner IF, et al. The DJ-1L166P mutant protein associated with early onset Parkinson's disease is unstable and forms higher-order protein complexes. Hum Mol Genet 2003;12:2807-2816.
14. Blom N, Gammeltoft S, Brunak S. Sequence- and structure-based prediction of eukaryotic protein phosphorylation sites. J Mol Biol 1999;294:1351-1362.
15. Bentivoglio AR, Cortelli P, Valente EM, et al. Phenotypic characterisation of autosomal recessive PARK6-linked parkinsonism in three unrelated Italian families. Mov Disord 2001;16: 999-1006.
16. Lohmann E, Periquet M, Bonifati V, et al. How much phenotypic variation can be attributed to parkin genotype? Ann Neurol 2003;54:176-185.
17. Bonifati V, Oostra BA, Heutink P. Linking DJ-1 to neurodegeneration offers novel insights for understanding the pathogenesis of Parkinson's disease. J Mol Med 2004;82:163-174.