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Nature Genetics|November 10, 2020
MLL4-associated condensates counterbalance Polycomb-mediated nuclear mechanical stress in Kabuki syndromeAlessandra Fasciani, Sarah D'Annunzio, Vittoria Poli, et al.The EMBO Journal|December 19, 2018
A selective ER-phagy exerts procollagen quality control via a Calnexin-FAM134B complexAlison Forrester, Chiara De Leonibus, Paolo Grumati, et al.The EMBO Journal|March 11, 2020
Light-responsive microRNA miR-211 targets Ezrin to modulate lysosomal biogenesis and retinal cell clearanceFederica Naso, Daniela Intartaglia, Danila Falanga, et al.The EMBO Journal|May 2, 2021
The TBC1D31/praja2 complex controls primary ciliogenesis through PKA-directed OFD1 ubiquitylationEmanuela Senatore, Francesco Chiuso, Laura Rinaldi, et al.The EMBO Journal|July 28, 2020
MiT/TFE factors control ER-phagy via transcriptional regulation of FAM134BLaura Cinque, Chiara De Leonibus, Maria Iavazzo, et al.Journal of Medical Genetics|August 21, 2020
Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosaGuillaume Olivier, Marta Corton, Daniela Intartaglia, et al.American Journal of Human Genetics|December 3, 2013
Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinismJames A Poulter, Musallam Al-Araimi, Ivan Conte, et al.Pageof 14