{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T12:07:07Z","timestamp":1761739627597,"version":"build-2065373602"},"reference-count":26,"publisher":"Bentham Science Publishers Ltd.","issue":"1","license":[{"start":{"date-parts":[[2011,3,22]],"date-time":"2011-03-22T00:00:00Z","timestamp":1300752000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/3.0\/"}],"content-domain":{"domain":["openneurologyjournal.com","benthamopen.com"],"crossmark-restriction":true},"short-container-title":["TONEUJ"],"published-print":{"date-parts":[[2011,3,22]]},"abstract":"<jats:p>\n                    Mutations in the PARK7 gene,\n                    <jats:italic>DJ-1<\/jats:italic>\n                    , have been reported to cause early-onset and familial Parkinson\u2019s disease (PD). The function of DJ-1 and how it contributes to the development of the disease is not clear today, but several studies report that DJ-1 is responsive to oxidative stress and important for the maintenance of mitochondria. We have screened three coding regions of\n                    <jats:italic>DJ-1<\/jats:italic>\n                    (exon 2, 5 and 7) in a Swedish Parkinson cohort. The Swedish PD material consisted of 67 patients with a self reported positive family history of PD and 77 patients with early-onset of disease (\u226450 years old). We detected two patients with the previously reported synonymous mutation, Ala167Ala (c.501A&gt;G, rs71653621), in exon 7. No Ala167Ala carriers were identified among 213 neurologically healthy Swedish controls. Mechanisms by which the synonymous Ala167Ala mutation can have consequences are unknown. It may affect the mRNA stability, secondary structure of mRNA, synthesis, turnover, protein folding and function. We could show a 1.3% decrease in\n                    <jats:italic>DJ-1<\/jats:italic>\n                    mRNA folding energy in the A&lt;G substituted sequence compared to the wild type sequence\n                    <jats:italic>in silico,<\/jats:italic>\n                    suggesting a possible small effect of Ala167Ala on\n                    <jats:italic>DJ-1<\/jats:italic>\n                    gene function. This is the first report on an identified\n                    <jats:italic>DJ-1<\/jats:italic>\n                    mutation in Swedish PD patients. Our results, in combination with those of previous studies, strengthen the hypothesis that alterations in\n                    <jats:italic>DJ-1<\/jats:italic>\n                    are not a common cause of familial and early-onset PD world-wide.\n                  <\/jats:p>","DOI":"10.2174\/1874205x01105010008","type":"journal-article","created":{"date-parts":[[2011,3,30]],"date-time":"2011-03-30T01:44:27Z","timestamp":1301449467000},"page":"08-11","update-policy":"https:\/\/doi.org\/10.2174\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["DJ-1 Mutations are Rare in a Swedish Parkinson Cohort"],"prefix":"10.2174","volume":"05","author":[{"given":"Anna","family":"Anvret","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeff G","family":"Blackinton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie","family":"Westerlund","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Caroline","family":"Ran","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olof","family":"Sydow","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Willows","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"H\u00e5kansson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hans","family":"Nissbrandt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea Carmine","family":"Belin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"965","reference":[{"key":"refR1","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1038\/26652","volume":"395","author":"Leroy E","year":"1998","unstructured":"Leroy E, Boyer R, Auburger G, et al. \n          The ubiquitin pathway in Parkinson's disease \n          Nature  \n          1998; 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