Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation.

Autor: Tassone, Flora, Protic, Dragana, Allen, Emily Graves, Archibald, Alison D., Baud, Anna, Brown, Ted W., Budimirovic, Dejan B., Cohen, Jonathan, Dufour, Brett, Eiges, Rachel, Elvassore, Nicola, Gabis, Lidia V., Grudzien, Samantha J., Hall, Deborah A., Hessl, David, Hogan, Abigail, Hunter, Jessica Ezzell, Jin, Peng, Jiraanont, Poonnada, Klusek, Jessica

Publikováno v: Cells (2073-4409); Sep2023, Vol. 12 Issue 18, p2330, 69p

AAGGG repeat expansions trigger RFC1-independent synaptic dysregulation in human CANVAS Neurons.

Autor: Maltby CJ; Department of Neurology, University of Michigan, Ann Arbor, MI, USA., Krans A; Department of Neurology, University of Michigan, Ann Arbor, MI, USA.; Ann Arbor Veterans Administration Healthcare, Ann Arbor, MI, USA., Grudzien SJ; Department of Neurology, University of Michigan, Ann Arbor, MI, USA.; Neuroscience Graduate Program, University of Michigan, Ann Arbor, MI, USA.; Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA., Palacios Y; Department of Neurology, University of Michigan, Ann Arbor, MI, USA.; Postbaccalaureate Research Education Program, University of Michigan, Ann Arbor, MI, USA., Muiños J; Department of Neurology, University of Michigan, Ann Arbor, MI, USA.; UM SMART Undergraduate Summer Program, University of Michigan, Ann Arbor, MI, USA., Suárez A; Department of Neurology, University of Michigan, Ann Arbor, MI, USA.; Postbaccalaureate Research Education Program, University of Michigan, Ann Arbor, MI, USA., Asher M; Department of Neurology, University of Michigan, Ann Arbor, MI, USA., Khurana V; Department of Neurology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Barmada SJ; Department of Neurology, University of Michigan, Ann Arbor, MI, USA., Dijkstra AA; Department of Pathology, Amsterdam UMC, Amsterdam Neuroscience, Amsterdam, The Netherlands.; Swammerdam Institute for Life Sciences, University of Amsterdam, Amsterdam, The Netherlands., Todd PK; Department of Neurology, University of Michigan, Ann Arbor, MI, USA.; Ann Arbor Veterans Administration Healthcare, Ann Arbor, MI, USA.

Publikováno v: BioRxiv : the preprint server for biology [bioRxiv] 2023 Dec 14. Date of Electronic Publication: 2023 Dec 14.