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The LRRK2 p.L1795F variant causes Parkinson’s disease in the European population

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dc.contributor.coauthorLange, Lara M.
dc.contributor.coauthorLevine, Kristin
dc.contributor.coauthorVitale, Dan
dc.contributor.coauthorIwaki, Hirotaka
dc.contributor.coauthorLohmann, Katja
dc.contributor.coauthorMarsili, Luca
dc.contributor.coauthorEspay, Alberto J.
dc.contributor.coauthorChen, Honglei
dc.contributor.coauthorLeonard, Hampton
dc.contributor.coauthorNalls, Mike A.
dc.contributor.coauthorMencacci, Niccolo E.
dc.contributor.coauthorMorris, Huw R.
dc.contributor.coauthorSingleton, Andrew B.
dc.contributor.coauthorKlein, Christine
dc.contributor.coauthorBlauwendraat, Cornelis
dc.contributor.coauthorFang, Zih-Hua
dc.contributor.coauthorGatto, Emilia M.
dc.contributor.coauthorKauffman, Marcelo
dc.contributor.coauthorKhachatryan, Samson
dc.contributor.coauthorTavadyan, Zaruhi
dc.contributor.coauthorShepherd, Claire E.
dc.contributor.coauthorHunter, Julie
dc.contributor.coauthorKumar, Kishore
dc.contributor.coauthorEllis, Melina
dc.contributor.coauthorRentería, Miguel E.
dc.contributor.coauthorKoks, Sulev
dc.contributor.coauthorZimprich, Alexander
dc.contributor.coauthorSchumacher-Schuh, Artur F.
dc.contributor.coauthorRieder, Carlos
dc.contributor.coauthorSaffie Awad, Paula
dc.contributor.coauthorTumas, Vitor
dc.contributor.coauthorCamargos, Sarah
dc.contributor.coauthorFon, Edward A.
dc.contributor.coauthorMonchi, Oury
dc.contributor.coauthorFon, Ted
dc.contributor.coauthorPizarro Galleguillos, Benjamin
dc.contributor.coauthorOlguin, Patricio
dc.contributor.coauthorMiranda, Marcelo
dc.contributor.coauthorBustamante, Maria Leonor
dc.contributor.coauthorChana, Pedro
dc.contributor.coauthorTang, Beisha
dc.contributor.coauthorShang, Huifang
dc.contributor.coauthorGuo, Jifeng
dc.contributor.coauthorChan, Piu
dc.contributor.coauthorLuo, Wei
dc.contributor.coauthorArboleda, Gonzalo
dc.contributor.coauthorOrozco, Jorge
dc.contributor.coauthorJimenez del Rio, Marlene
dc.contributor.coauthorHernandez, Alvaro
dc.contributor.coauthorSalama, Mohamed
dc.contributor.coauthorKamel, Walaa A.
dc.contributor.coauthorZewde, Yared Z.
dc.contributor.coauthorBrice, Alexis
dc.contributor.coauthorCorvol, Jean-Christophe
dc.contributor.coauthorWestenberger, Ana
dc.contributor.coauthorVollstedt, Eva-Juliane
dc.contributor.coauthorMadoev, Harutyun
dc.contributor.coauthorTrinh, Joanne
dc.contributor.coauthorJunker, Johanna
dc.contributor.coauthorIllarionova, Anastasia
dc.contributor.coauthorMollenhauer, Brit
dc.contributor.coauthorHopfner, Franziska
dc.contributor.coauthorHöglinger, Günter
dc.contributor.coauthorSharma, Manu
dc.contributor.coauthorGasser, Thomas
dc.contributor.coauthorGroppa, Sergiu
dc.contributor.coauthorAkpalu, Albert
dc.contributor.coauthorXiromerisiou, Georgia
dc.contributor.coauthorHadjigorgiou, Georgios
dc.contributor.coauthorDadiotis, Efthymios
dc.contributor.coauthorDagklis, Ioannis
dc.contributor.coauthorTarnanas, Ioannis
dc.contributor.coauthorStefanis, Leonidas
dc.contributor.coauthorStamelou, Maria
dc.contributor.coauthorMedina, Alex
dc.contributor.coauthorChan, Germaine Hiu-Fai
dc.contributor.coauthorCheung, Nelson Yuk-Fai
dc.contributor.coauthorIp, Nancy
dc.contributor.coauthorChan, Phillip
dc.contributor.coauthorZhou, Xiaopu
dc.contributor.coauthorKishore, Asha
dc.contributor.coauthorKP, Divya
dc.contributor.coauthorPal, Pramod
dc.contributor.coauthorKukkle, Prashanth Lingappa
dc.contributor.coauthorRajan, Roopa
dc.contributor.coauthorBorgohain, Rupam
dc.contributor.coauthorSalari, Mehri
dc.contributor.coauthorQuattrone, Andrea
dc.contributor.coauthorGagliardi, Monica
dc.contributor.coauthorValente, Enza Maria
dc.contributor.coauthorAvenali, Micol
dc.contributor.coauthorAnnesi, Grazia
dc.contributor.coauthorParnetti, Lucilla
dc.contributor.coauthorSchirinzi, Tommaso
dc.contributor.coauthorFunayama, Manabu
dc.contributor.coauthorHattori, Nobutaka
dc.contributor.coauthorShiraishi, Tomotaka
dc.contributor.coauthorKarimova, Altynay
dc.contributor.coauthorKaishibayeva, Gulnaz
dc.contributor.coauthorShambetova, Cholpon
dc.contributor.coauthorKrüger, Rejko
dc.contributor.coauthorTan, Ai Huey
dc.contributor.coauthorAhmad-Annuar, Azlina
dc.contributor.coauthorLim, Shen-Yang
dc.contributor.coauthorTay, Yi Wen
dc.contributor.coauthorNorlinah, Mohamed Ibrahim
dc.contributor.coauthorAbdul Murad, Nor Azian
dc.contributor.coauthorAzmin, Shahrul
dc.contributor.coauthorMohamed, Wael
dc.contributor.coauthorMartinez-Ramirez, Daniel
dc.contributor.coauthorRodriguez-Violante, Mayela
dc.contributor.coauthorReyes-Pérez, Paula
dc.contributor.coauthorTserensodnom, Bayasgalan
dc.contributor.coauthorOjha, Rajeev
dc.contributor.coauthorAnderson, Tim J.
dc.contributor.coauthorPitcher, Toni L.
dc.contributor.coauthorSanyaolu, Arinola
dc.contributor.coauthorOkubadejo, Njideka
dc.contributor.coauthorOjo, Oluwadamilola
dc.contributor.coauthorAasly, Jan O.
dc.contributor.coauthorPihlstrøm, Lasse
dc.contributor.coauthorTan, Manuela
dc.contributor.coauthorUr-Rehman, Shoaib
dc.contributor.coauthorCornejo-Olivas, Mario
dc.contributor.coauthorDoquenia, Maria Leila
dc.contributor.coauthorRosales, Raymond
dc.contributor.coauthorVinuela, Angel
dc.contributor.coauthorIakovenko, Elena
dc.contributor.coauthorAl Mubarak, Bashayer
dc.contributor.coauthorUmair, Muhammad
dc.contributor.coauthorTan, Eng-King
dc.contributor.coauthorFoo, Jia Nee
dc.contributor.coauthorAmod, Ferzana
dc.contributor.coauthorCarr, Jonathan
dc.contributor.coauthorBardien, Soraya
dc.contributor.coauthorJeon, Beomseok
dc.contributor.coauthorKim, Yun Joong
dc.contributor.coauthorCubo, Esther
dc.contributor.coauthorAlvarez, Ignacio
dc.contributor.coauthorHoenicka, Janet
dc.contributor.coauthorBeyer, Katrin
dc.contributor.coauthorPeriñan, Maria Teresa
dc.contributor.coauthorPastor, Pau
dc.contributor.coauthorEl-Sadig, Sarah
dc.contributor.coauthorBrolin, Kajsa
dc.contributor.coauthorZweier, Christiane
dc.contributor.coauthorKrack, Paul
dc.contributor.coauthorTinkhauser, Gerd
dc.contributor.coauthorLin, Chin-Hsien
dc.contributor.coauthorKung, Pin-Jui
dc.contributor.coauthorWu, Hsiu-Chuan
dc.contributor.coauthorWu, Ruey-Meei
dc.contributor.coauthorWu, Yihru
dc.contributor.coauthorAmouri, Rim
dc.contributor.coauthorBen Sassi, Samia
dc.contributor.coauthorGenc, Gencer
dc.contributor.coauthorNoyce, Alastair
dc.contributor.coauthorDey, Sumit
dc.contributor.coauthorMartínez-Carrasco, Alejandro
dc.contributor.coauthorSchrag, Anette
dc.contributor.coauthorSchapira, Anthony
dc.contributor.coauthorStafford, Eleanor J.
dc.contributor.coauthorHoulden, Henry
dc.contributor.coauthorHardy, John
dc.contributor.coauthorMok, Kin Ying
dc.contributor.coauthorRizig, Mie
dc.contributor.coauthorWood, Nicholas
dc.contributor.coauthorOkunoye, Olaitan
dc.contributor.coauthorKaiyrzhanov, Rauan
dc.contributor.coauthorWeil, Rimona
dc.contributor.coauthorJasaityte, Simona
dc.contributor.coauthorObese, Vida
dc.contributor.coauthorCarroll, Camille
dc.contributor.coauthorBale, Claire
dc.contributor.coauthorGrosset, Donald
dc.contributor.coauthorWilliams, Nigel
dc.contributor.coauthorLewis, Patrick Alfryn
dc.contributor.coauthorLove, Seth
dc.contributor.coauthorStott, Simon
dc.contributor.coauthorPantazis, Caroline B.
dc.contributor.coauthorAndersh, Kate
dc.contributor.coauthorScreven, Laurel
dc.contributor.coauthorBandres-Ciga, Sara
dc.contributor.coauthorKeller Sarmiento, Ignacio Juan
dc.contributor.coauthorO’Grady, Alyssa
dc.contributor.coauthorSiddiqi, Bernadette
dc.contributor.coauthorCasey, Bradford
dc.contributor.coauthorFiske, Brian
dc.contributor.coauthorComart, Charisse
dc.contributor.coauthorSolle, Justin C.
dc.contributor.coauthorMurphy, Kaileigh
dc.contributor.coauthorKuhl, Maggie
dc.contributor.coauthorLouie, Naomi
dc.contributor.coauthorChowdhury, Sohini
dc.contributor.coauthorSherer, Todd
dc.contributor.coauthorSobering, Andrew K.
dc.contributor.coauthorJonas, Cabell
dc.contributor.coauthorCruchaga, Carlos
dc.contributor.coauthorIbanez, Laura
dc.contributor.coauthorWegel, Claire
dc.contributor.coauthorForoud, Tatiana
dc.contributor.coauthorHall, Deborah
dc.contributor.coauthorHernandez, Dena
dc.contributor.coauthorKim, Jonggeol Jeff
dc.contributor.coauthorSong, Yeajin
dc.contributor.coauthorShiamim, Ejaz
dc.contributor.coauthorRiley, Ekemini
dc.contributor.coauthorSerrano, Geidy E.
dc.contributor.coauthorMata, Ignacio F.
dc.contributor.coauthorInca-Martinez, Miguel
dc.contributor.coauthorWilliamson, Jared
dc.contributor.coauthorJankovic, Joseph
dc.contributor.coauthorShulman, Joshua
dc.contributor.coauthorGalvelis, Kamalini Ghosh
dc.contributor.coauthorNuytemans, Karen
dc.contributor.coauthorKieburtz, Karl
dc.contributor.coauthorMarkopoulou, Katerina
dc.contributor.coauthorMarek, Kenneth
dc.contributor.coauthorChahine, Lana M.
dc.contributor.coauthorRuffrage, Lauren
dc.contributor.coauthorShulman, Lisa
dc.contributor.coauthorDean, Marissa
dc.contributor.coauthorFarrer, Matthew
dc.contributor.coauthorPuckelwartz, Megan J.
dc.contributor.coauthorLubbe, Steven
dc.contributor.coauthorAlbin, Roger
dc.contributor.coauthorAlcalay, Roy
dc.contributor.coauthorWalker, Ruth
dc.contributor.coauthorDumanis, Sonya
dc.contributor.coauthorXie, Tao
dc.contributor.coauthorBeach, Thomas
dc.contributor.coauthorFaghri, Faraz
dc.contributor.coauthorMakarious, Mary B.
dc.contributor.coauthorKoretsky, Mathew
dc.contributor.coauthorNguyen, Duan
dc.contributor.coauthorNguyen, Toan
dc.contributor.coauthorAtadzhanov, Masharip
dc.contributor.departmentSchool of Medicine
dc.contributor.kuauthorBaşak, Ayşe Nazlı
dc.contributor.kuauthorÇakmak, Özgür Öztop
dc.contributor.kuauthorErtan, Fatoş Sibel
dc.contributor.schoolcollegeinstituteSCHOOL OF MEDICINE
dc.date.accessioned2025-05-22T10:35:01Z
dc.date.available2025-05-22
dc.date.issued2025
dc.description.abstractLRRK2-PD represents the most common form of autosomal dominant Parkinson’s disease. We identified the LRRK2 p.L1795F variant in three families and six additional unrelated cases using genetic data from over 50,000 individuals. Carriers with available genotyping data shared a common haplotype. The clinical presentation resembles other LRRK2-PD forms. Combined with published functional evidence showing strongly enhanced LRRK2 kinase activity, we provide evidence that LRRK2 p.L1795F is pathogenic.
dc.description.fulltextYes
dc.description.harvestedfromManual
dc.description.indexedbyScopus
dc.description.indexedbyWOS
dc.description.indexedbyPubMed
dc.description.openaccessGold OA
dc.description.publisherscopeInternational
dc.description.readpublishN/A
dc.description.sponsoredbyTubitakEuN/A
dc.description.versionPublished Version
dc.identifier.doi10.1038/s41531-025-00896-2
dc.identifier.embargoNo
dc.identifier.filenameinventorynoIR06209
dc.identifier.issn2373-8057
dc.identifier.issue1
dc.identifier.quartileQ1
dc.identifier.scopus2-s2.0-105001136183
dc.identifier.urihttps://hdl.handle.net/20.500.14288/29418
dc.identifier.urihttps://doi.org/10.1038/s41531-025-00896-2
dc.identifier.volume11
dc.identifier.wos001451496000001
dc.keywordsMutation
dc.language.isoeng
dc.publisherNature Research
dc.relation.affiliationKoç University
dc.relation.collectionKoç University Institutional Repository
dc.relation.ispartofNPJ Parkinson's Disease
dc.relation.openaccessYes
dc.rightsCC BY (Attribution)
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.subjectMedicine
dc.titleThe LRRK2 p.L1795F variant causes Parkinson’s disease in the European population
dc.typeJournal Article
dspace.entity.typePublication
person.familyNameBaşak
person.familyNameÇakmak
person.familyNameErtan
person.givenNameAyşe Nazlı
person.givenNameÖzgür Öztop
person.givenNameFatoş Sibel
relation.isOrgUnitOfPublicationd02929e1-2a70-44f0-ae17-7819f587bedd
relation.isOrgUnitOfPublication.latestForDiscoveryd02929e1-2a70-44f0-ae17-7819f587bedd
relation.isParentOrgUnitOfPublication17f2dc8e-6e54-4fa8-b5e0-d6415123a93e
relation.isParentOrgUnitOfPublication.latestForDiscovery17f2dc8e-6e54-4fa8-b5e0-d6415123a93e

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