Publication Date:
2002-11-26
Description:
The DJ-1 gene encodes a ubiquitous, highly conserved protein. Here, we show that DJ-1 mutations are associated with PARK7, a monogenic form of human parkinsonism. The function of the DJ-1 protein remains unknown, but evidence suggests its involvement in the oxidative stress response. Our findings indicate that loss of DJ-1 function leads to neurodegeneration. Elucidating the physiological role of DJ-1 protein may promote understanding of the mechanisms of brain neuronal maintenance and pathogenesis of Parkinson's disease.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Bonifati, Vincenzo -- Rizzu, Patrizia -- van Baren, Marijke J -- Schaap, Onno -- Breedveld, Guido J -- Krieger, Elmar -- Dekker, Marieke C J -- Squitieri, Ferdinando -- Ibanez, Pablo -- Joosse, Marijke -- van Dongen, Jeroen W -- Vanacore, Nicola -- van Swieten, John C -- Brice, Alexis -- Meco, Giuseppe -- van Duijn, Cornelia M -- Oostra, Ben A -- Heutink, Peter -- New York, N.Y. -- Science. 2003 Jan 10;299(5604):256-9. Epub 2002 Nov 21.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Genetic-Epidemiologic Unit, Department of Clinical Genetics, Department of Epidemiology and Biostatistics, Erasmus Medical Center Rotterdam, Post Office Box 1738, 3000 DR Rotterdam, Netherlands. bonifati@kgen.fgg.eur.nl〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/12446870" target="_blank"〉PubMed〈/a〉
Keywords:
Alleles
;
Amino Acid Sequence
;
Amino Acid Substitution
;
Animals
;
Base Sequence
;
Brain/metabolism
;
COS Cells
;
Cell Nucleus/metabolism
;
Chromosomes, Human, Pair 1
;
Cloning, Molecular
;
Cytoplasm/metabolism
;
DNA, Complementary
;
Exons
;
Genes, Recessive
;
Humans
;
Intracellular Signaling Peptides and Proteins
;
Molecular Sequence Data
;
*Mutation
;
Oncogene Proteins/chemistry/*genetics/metabolism
;
Oxidative Stress
;
PC12 Cells
;
Parkinsonian Disorders/*genetics/metabolism
;
Pedigree
;
Physical Chromosome Mapping
;
Point Mutation
;
Protein Structure, Secondary
;
Rats
;
Reverse Transcriptase Polymerase Chain Reaction
;
Sequence Deletion
;
Transfection
Print ISSN:
0036-8075
Electronic ISSN:
1095-9203
Topics:
Biology
,
Chemistry and Pharmacology
,
Computer Science
,
Medicine
,
Natural Sciences in General
,
Physics
Permalink