未登录 分享 收藏
分享 收藏
分享 收藏
分享 收藏
分享 收藏
分享 收藏
分享 收藏
分享 收藏
Modelling POLG mutations in mice unravels a critical role of POLγΒ in regulating phenotypic severity 建立POLG基因突变的小鼠模型揭示了POLγΒ在调控表型严重程度中的关键作用 Corra, Samantha; Zuppardo, Alessandro; Valenzuela, Sebastian; Jenninger, Louise; Cerutti, Raffaele; Sillamaa, Sirelin; Hoberg, Emily; Johansson, Katarina A. S.; Rovsnik, Urska; Volta, Sara; Silva-Pinheiro, Pedro; Davis, Hannah; Trifunovic, Aleksandra; Minczuk, Michal; Gustafsson, Claes M.; Suomalainen, Anu; Zeviani, Massimo; Macao, Bertil; Zhu, Xuefeng; Falkenberg, Maria; Viscomi, Carlo 分享 收藏
分享 收藏
Overactive mitochondrial DNA replication disrupts perinatal cardiac maturation 过度活跃的线粒体DNA复制会破坏围产期心脏成熟 Landoni, Juan C.; Erkul, Semin; Laalo, Tuomas; Goffart, Steffi; Kivela, Riikka; Skube, Karlo; Nieminen, Anni I.; Wickstrom, Sara A.; Stewart, James; Suomalainen, Anu 分享 收藏
分享 收藏
Genetic and functional correction of argininosuccinate lyase deficiency using CRISPR adenine base editors Jalil, Sami; Keskinen, Timo; Juutila, Juhana; Maldonado, Rocio Sartori; Euro, Liliya; Suomalainen, Anu; Lapatto, Risto; Kuuluvainen, Emilia; Hietakangas, Ville; Otonkoski, Timo; Hyvonen, Mervi E.; Wartiovaara, Kirmo 分享 收藏
Recessive TMOD1 mutation causes childhood cardiomyopathy Vasilescu, Catalina; Colpan, Mert; Ojala, Tiina H.; Manninen, Tuula; Mutka, Aino; Ylanen, Kaisa; Rahkonen, Otto; Poutanen, Tuija; Martelius, Laura; Kumari, Reena; Hinterding, Helena; Brilhante, Virginia; Ojanen, Simo; Lappalainen, Pekka; Koskenvuo, Juha; Carroll, Christopher J.; Fowler, Velia M.; Gregorio, Carol C.; Suomalainen, Anu 分享 收藏
Letter to the editor on: Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions by Park et al. (2022) 致编辑的信: 神经元核内包涵体疾病中的Hornerin沉积: Park等人直接鉴定包涵体中具有成分偏倚区域的蛋白质 (2022) Luo, Huihui; Gustavsson, Emil K.; Macpherson, Hannah; Dominik, Natalia; Zhelcheska, Kristina; Montgomery, Kylie; Anderson, Claire; Yau, Wai Yan; Efthymiou, Stephanie; Turner, Chris; DeTure, Michael; Dickson, Dennis W.; Josephs, Keith A.; Revesz, Tamas; Lashley, Tammaryn; Halliday, Glenda; Rowe, Dominic B.; McCann, Emily; Blair, Ian; Lees, Andrew J.; Tienari, Pentti J.; Suomalainen, Anu; Molina-Porcel, Laura; Kovacs, Gabor G.; Gelpi, Ellen; Hardy, John; Haltia, Matti J.; Tucci, Arianna; Jaunmuktane, Zane; Ryten, Mina; Houlden, Henry; Chen, Zhongbo 分享 收藏
分享 收藏
TNIK is a conserved regulator of glucose and lipid metabolism in obesity Pham, T. C. Phung; Dollet, Lucile; Ali, Mona S.; Raun, Steffen H.; Moller, Lisbeth L. V.; Jafari, Abbas; Ditzel, Nicholas; Andersen, Nicoline R.; Fritzen, Andreas M.; Gerhart-Hines, Zachary; Kiens, Bente; Suomalainen, Anu; Simpson, Stephen J.; Olsen, Morten Salling; Kieser, Arnd; Schjerling, Peter; Nieminen, Anni I.; Richter, Erik A.; Havula, Essi; Sylow, Lykke 分享 收藏
分享 收藏
分享 收藏
The Finnish genetic heritage in 2022-from diagnosis to translational research Uusimaa, Johanna; Kettunen, Johannes; Varilo, Teppo; Jarvela, Irma; Kallijarvi, Jukka; Kaariainen, Helena; Laine, Minna; Lapatto, Risto; Myllynen, Paivi; Niinikoski, Harri; Rahikkala, Elisa; Suomalainen, Anu; Tikkanen, Ritva; Tyynismaa, Henna; Vieira, Paivi; Zarybnicky, Tomas; Sipila, Petra; Kuure, Satu; Hinttala, Reetta 分享 收藏