We developed an ultra-sensitive Simoa-based immunoassay for detecting C9orf72 polyGP in CSF. In collaboration with Wave Life Sciences we validated the assay for clinical trial use and validated it using samples from the Genetic FTD Initiative. A great collaboration with Henrik Zetterberg, Amanda Heslegrave, Jon Rohrer and Wave.
A nice collaboration with Alessandro Provenzani’s lab on small molecule regulators of C9orf72 RAN translation. Sally investigated their effect in iPSC-motor neurons derived from people with C9orf72 repeat expansions. Paper just out in EMBO Journal: https://www.embopress.org/doi/full/10.15252/embj.2020105026
Soluble and insoluble dipeptide repeat protein measurements in C9orf72-frontotemporal dementia brains show regional differential solubility and correlation of poly-GR with clinical severity. https://actaneurocomms.biomedcentral.com/articles/10.1186/s40478-020-01036-y
Check out our mini-review of three new papers showing that TMEM106B and progranulin double knockouts fare worse than single knockouts. https://pubmed.ncbi.nlm.nih.gov/32985120/
Jack´s new paper: FUS ALS-causative mutations impair FUS autoregulation and splicing factor networks through intron retention. Humphrey J, Birsa N, Milioto C, McLaughlin M, Ule AM, Robaldo D, Eberle AB, Kräuchi R, Bentham M, Brown AL, Jarvis S, Bodo C, Garone MG, Devoy A, Soraru G, Rosa A, Bozzoni I,…
Good luck with setting up your new lab at the Institute for Stem Cell Biology and Regenerative Medicine (inStem), Bangalore, India.
Adrian presented our recent work on developing new C9orf72 knock-in models at the Packard Centre for ALS Annual Symposium in Baltimore March 2nd-3rd 2020.
We are looking forward to the 2nd European C9orf72 Meeting January 30-31st 2020. This year the meeting is hosted by the Isaacs lab at UCL!