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Page 1
Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia.
Wagner M, Osborn DPS, Gehweiler I, Nagel M, Ulmer U, Bakhtiari S, Amouri R, Boostani R, Hentati F, Hockley MM, Hölbling B, Schwarzmayr T, Karimiani EG, Kernstock C, Maroofian R, Müller-Felber W, Ozkan E, Padilla-Lopez S, Reich S, Reichbauer J, Darvish H, Shahmohammadibeni N, Tafakhori A, Vill K, Zuchner S, Kruer MC, Winkelmann J, Jamshidi Y, Schüle R. Wagner M, et al. Among authors: holbling b. Nat Commun. 2019 Oct 21;10(1):4790. doi: 10.1038/s41467-019-12620-9. Nat Commun. 2019. PMID: 31636353 Free PMC article.
Dual-targeting CRISPR-CasRx reduces C9orf72 ALS/FTD sense and antisense repeat RNAs in vitro and in vivo.
Kempthorne L, Vaizoglu D, Cammack AJ, Carcolé M, Roberts MJ, Mikheenko A, Fisher A, Suklai P, Muralidharan B, Kroll F, Moens TG, Yshii L, Verschoren S, Hölbling BV, Moreira FC, Katona E, Coneys R, de Oliveira P, Zhang YJ, Jansen K, Daughrity LM, McGown A, Ramesh TM, Van Den Bosch L, Lignani G, Rahim AA, Coyne AN, Petrucelli L, Rihel J, Isaacs AM. Kempthorne L, et al. Among authors: holbling bv. Nat Commun. 2025 Jan 8;16(1):459. doi: 10.1038/s41467-024-55550-x. Nat Commun. 2025. PMID: 39779704 Free PMC article.
C9orf72 arginine-rich dipeptide proteins interact with ribosomal proteins in vivo to induce a toxic translational arrest that is rescued by eIF1A.
Moens TG, Niccoli T, Wilson KM, Atilano ML, Birsa N, Gittings LM, Holbling BV, Dyson MC, Thoeng A, Neeves J, Glaria I, Yu L, Bussmann J, Storkebaum E, Pardo M, Choudhary JS, Fratta P, Partridge L, Isaacs AM. Moens TG, et al. Among authors: holbling bv. Acta Neuropathol. 2019 Mar;137(3):487-500. doi: 10.1007/s00401-018-1946-4. Epub 2019 Jan 2. Acta Neuropathol. 2019. PMID: 30604225 Free PMC article.