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
This was a great meeting jointly organised by UK DRI’s Marc-David Ruepp, with ~300 attendees and many excellent speakers including Adrian
Our new paper shows that activation of insulin signalling reduces C9orf72 repeat toxicity in fly models and reduces DPR levels in flies and human cells. https://elifesciences.org/articles/58565
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.