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Early-onset Parkinson's disease: a novel deletion comprising the DJ-1 and TNFRSF9 genes

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dc.contributor.coauthorGuler, Suleyman
dc.contributor.coauthorGuler, Sukran
dc.contributor.departmentSchool of Medicine
dc.contributor.departmentGraduate School of Health Sciences
dc.contributor.kuauthorBaşak, Ayşe Nazlı
dc.contributor.kuauthorGül, Tuğçe
dc.contributor.kuauthorHaerle, Maja C.
dc.contributor.schoolcollegeinstituteGRADUATE SCHOOL OF HEALTH SCIENCES
dc.contributor.schoolcollegeinstituteSCHOOL OF MEDICINE
dc.date.accessioned2024-11-09T23:43:45Z
dc.date.issued2021
dc.description.abstractPatients with mutations in DJ-1 have early-onset Parkinson's disease and slow progression. Here we describe a Turkish family with a large deletion in the neighboring genes DJ-1 (del exons 1-5) and TNFRSF9 (del exons 1-6), raising the question if TNFRSF9 is a possible disease modifier.
dc.description.indexedbyWOS
dc.description.indexedbyScopus
dc.description.indexedbyPubMed
dc.description.issue12
dc.description.openaccessNO
dc.description.sponsoredbyTubitakEuN/A
dc.description.sponsorshipPresidency of Turkey, Presidency of Strategy and Budget We express our heartfelt thanks to Suna, nan, and pek Krac
dc.description.sponsorshipnone of our efforts would be possible without their vision, dedicated mentorship, and sustained support. We extend our deepest gratitude to our academic advisors Prof. Robert H. Brown (University of Massachusetts Medical School, Worcester, MA, USA) and Prof. Jeffrey D. Macklis (Harvard Medical School, Boston, MA, USA) for supporting NDAL's growth and development over the years. We sincerely thank Robin Palvadeau for his bioinformatic assistance and Profs Sibel Ertan and Gencer Genc for the critical reading of the manuscript. The family is acknowledged for its cooperation. We gratefully acknowledge the use of the services and facilities of the Koc University Research Center for Translational Medicine (KUTTAM), funded by the Presidency of Turkey, Presidency of Strategy and Budget. The content is entirely the responsibility of the authors and does not necessarily represent the official views of the Presidency of Strategy and Budget.
dc.description.volume36
dc.identifier.doi10.1002/mds.28812
dc.identifier.eissn1531-8257
dc.identifier.issn0885-3185
dc.identifier.scopus2-s2.0-85116196400
dc.identifier.urihttps://doi.org/10.1002/mds.28812
dc.identifier.urihttps://hdl.handle.net/20.500.14288/13548
dc.identifier.wos703036000001
dc.language.isoeng
dc.publisherWiley
dc.relation.ispartofMovement Disorders
dc.subjectClinical neurology
dc.titleEarly-onset Parkinson's disease: a novel deletion comprising the DJ-1 and TNFRSF9 genes
dc.typeLetter
dspace.entity.typePublication
local.contributor.kuauthorGül, Tuğçe
local.contributor.kuauthorHaerle, Maja C.
local.contributor.kuauthorBaşak, Ayşe Nazlı
local.publication.orgunit1GRADUATE SCHOOL OF HEALTH SCIENCES
local.publication.orgunit1SCHOOL OF MEDICINE
local.publication.orgunit2School of Medicine
local.publication.orgunit2Graduate School of Health Sciences
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