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De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features.
Harel T, Spicher C, Scheer E, Buchan JG, Cech J, Folland C, Frey T, Holtz AM, Innes AM, Keren B, Macken WL, Marcelis C, Otten CE, Paolucci SA, Petit F, Pfundt R, Pitceathly RDS, Rauch A, Ravenscroft G, Sanchev R, Steindl K, Tammer F, Tyndall A, Devys D, Vincent SD, Elpeleg O, Tora L. Harel T, et al. Brain. 2024 Aug 1;147(8):2732-2744. doi: 10.1093/brain/awae160. Brain. 2024. PMID: 38753057
Proteolytic control of the RNA silencing machinery.
Genschik P, Schiaffini M, Lechner E. Genschik P, et al. Plant Cell. 2024 Sep 3;36(9):2997-3008. doi: 10.1093/plcell/koae075. Plant Cell. 2024. PMID: 38456220 Free PMC article. Review.
MOSPD2 is an endoplasmic reticulum-lipid droplet tether functioning in LD homeostasis.
Zouiouich M, Di Mattia T, Martinet A, Eichler J, Wendling C, Tomishige N, Grandgirard E, Fuggetta N, Fromental-Ramain C, Mizzon G, Dumesnil C, Carpentier M, Reina-San-Martin B, Mathelin C, Schwab Y, Thiam AR, Kobayashi T, Drin G, Tomasetto C, Alpy F. Zouiouich M, et al. J Cell Biol. 2022 Jun 6;221(6):e202110044. doi: 10.1083/jcb.202110044. Epub 2022 Apr 7. J Cell Biol. 2022. PMID: 35389430 Free PMC article.
Epidermal maintenance of Langerhans cells relies on autophagy-regulated lipid metabolism.
Arbogast F, Sal-Carro R, Boufenghour W, Frenger Q, Bouis D, Filippi De La Palavesa L, Fauny JD, Griso O, Puccio H, Fima R, Huby T, Gautier EL, Molitor A, Carapito R, Bahram S, Romani N, Clausen BE, Voisin B, Mueller CG, Gros F, Flacher V. Arbogast F, et al. J Cell Biol. 2025 Feb 3;224(2):e202403178. doi: 10.1083/jcb.202403178. Epub 2024 Nov 13. J Cell Biol. 2025. PMID: 39535446 Free PMC article.
17 results