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Monogenic variants in dystonia: an exome-wide sequencing study.
Zech M, Jech R, Boesch S, Škorvánek M, Weber S, Wagner M, Zhao C, Jochim A, Necpál J, Dincer Y, Vill K, Distelmaier F, Stoklosa M, Krenn M, Grunwald S, Bock-Bierbaum T, Fečíková A, Havránková P, Roth J, Příhodová I, Adamovičová M, Ulmanová O, Bechyně K, Danhofer P, Veselý B, Haň V, Pavelekova P, Gdovinová Z, Mantel T, Meindl T, Sitzberger A, Schröder S, Blaschek A, Roser T, Bonfert MV, Haberlandt E, Plecko B, Leineweber B, Berweck S, Herberhold T, Langguth B, Švantnerová J, Minár M, Ramos-Rivera GA, Wojcik MH, Pajusalu S, Õunap K, Schatz UA, Pölsler L, Milenkovic I, Laccone F, Pilshofer V, Colombo R, Patzer S, Iuso A, Vera J, Troncoso M, Fang F, Prokisch H, Wilbert F, Eckenweiler M, Graf E, Westphal DS, Riedhammer KM, Brunet T, Alhaddad B, Berutti R, Strom TM, Hecht M, Baumann M, Wolf M, Telegrafi A, Person RE, Zamora FM, Henderson LB, Weise D, Musacchio T, Volkmann J, Szuto A, Becker J, Cremer K, Sycha T, Zimprich F, Kraus V, Makowski C, Gonzalez-Alegre P, Bardakjian TM, Ozelius LJ, Vetro A, Guerrini R, Maier E, Borggraefe I, Kuster A, Wortmann SB, Hackenberg A, Steinfeld R, Assmann B, Staufner C, Opladen T, Růžička E, Cohn RD, Dyment D, Chung WK, Engels H, Ceballos-Baumann A, Pl… See abstract for full author list ➔ Zech M, et al. Among authors: daumke o. Lancet Neurol. 2020 Nov;19(11):908-918. doi: 10.1016/S1474-4422(20)30312-4. Lancet Neurol. 2020. PMID: 33098801 Free PMC article.
GIMAP5 deficiency reveals a mammalian ceramide-driven longevity assurance pathway.
Park AY, Leney-Greene M, Lynberg M, Gabrielski JQ, Xu X, Schwarz B, Zheng L, Balasubramaniyam A, Ham H, Chao B, Zhang Y, Matthews HF, Cui J, Yao Y, Kubo S, Chanchu JM, Morawski AR, Cook SA, Jiang P, Ravell JC, Cheng YH, George A, Faruqi A, Pagalilauan AM, Bergerson JRE, Ganesan S, Chauvin SD, Aluri J, Edwards-Hicks J, Bohrnsen E, Tippett C, Omar H, Xu L, Butcher GW, Pascall J, Karakoc-Aydiner E, Kiykim A, Maecker H, Tezcan İ, Esenboga S, Heredia RJ, Akata D, Tekin S, Kara A, Kuloglu Z, Unal E, Kendirli T, Dogu F, Karabiber E, Atkinson TP, Cochet C, Filhol O, Bosio CM, Davis MM, Lifton RP, Pearce EL, Daumke O, Aytekin C, Şahin GE, Aksu AÜ, Uzel G, Koneti Rao V, Sari S, Dalgıç B, Boztug K, Cagdas D, Haskologlu S, Ikinciogullari A, Schwefel D, Vilarinho S, Baris S, Ozen A, Su HC, Lenardo MJ. Park AY, et al. Among authors: daumke o. Nat Immunol. 2024 Feb;25(2):282-293. doi: 10.1038/s41590-023-01691-y. Epub 2024 Jan 3. Nat Immunol. 2024. PMID: 38172257
Bimodal antagonism of PKA signalling by ARHGAP36.
Eccles RL, Czajkowski MT, Barth C, Müller PM, McShane E, Grunwald S, Beaudette P, Mecklenburg N, Volkmer R, Zühlke K, Dittmar G, Selbach M, Hammes A, Daumke O, Klussmann E, Urbé S, Rocks O. Eccles RL, et al. Among authors: daumke o. Nat Commun. 2016 Oct 7;7:12963. doi: 10.1038/ncomms12963. Nat Commun. 2016. PMID: 27713425 Free PMC article.
Structural insights into crista junction formation by the Mic60-Mic19 complex.
Bock-Bierbaum T, Funck K, Wollweber F, Lisicki E, von der Malsburg K, von der Malsburg A, Laborenz J, Noel JK, Hessenberger M, Jungbluth S, Bernert C, Kunz S, Riedel D, Lilie H, Jakobs S, van der Laan M, Daumke O. Bock-Bierbaum T, et al. Among authors: daumke o. Sci Adv. 2022 Sep 2;8(35):eabo4946. doi: 10.1126/sciadv.abo4946. Epub 2022 Aug 31. Sci Adv. 2022. PMID: 36044574 Free PMC article.
How RB1CC1/FIP200 claws its way to autophagic engulfment of SQSTM1/p62-ubiquitin condensates.
Turco E, Witt M, Abert C, Bock-Bierbaum T, Su MY, Trapannone R, Sztacho M, Danieli A, Shi X, Zaffagnini G, Gamper A, Schuschnig M, Fracchiolla D, Bernklau D, Romanov J, Hartl M, Hurley JH, Daumke O, Martens S. Turco E, et al. Among authors: daumke o. Autophagy. 2019 Aug;15(8):1475-1477. doi: 10.1080/15548627.2019.1615306. Epub 2019 May 22. Autophagy. 2019. PMID: 31066340 Free PMC article.
Crystal structure of nucleotide-free dynamin.
Faelber K, Posor Y, Gao S, Held M, Roske Y, Schulze D, Haucke V, Noé F, Daumke O. Faelber K, et al. Among authors: daumke o. Nature. 2011 Sep 18;477(7366):556-60. doi: 10.1038/nature10369. Nature. 2011. PMID: 21927000
93 results