@ShorterLabi
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Countering deleterious phase transitions in ALS/FTD, PD, AD, and related disorders @Penn @PennMedicine @bb_upenn @BMBGGUPENN @PGGUPenn @PennNGG @CAMBUpenn
University of Pennsylvania
Joined January 2012
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Biased stochastic motor dynamics drive bidirectional, processive translocation by the AAA+ disaggregase Hsp104: biorxiv.org/content/10.64898… – at Millbourne, PA
Age-dependent alterations in human striatum identify a PPP1R15B-miR-196a node as a modifier of Huntington’s disease: nature.com/articles/s41467-0…
VCP is a critical component for TDP-43 disaggregase activity in skeletal muscle: biorxiv.org/content/10.64898…
ShorterLab retweeted
A long time in the making, our latest work on large-scale membrane MD simulations is finally out!
We show that LC3 forms nanoclusters on autophagosomes, with implications for how they bind cargo and move!!
A wonderful collaboration with Nitin Ram’s lab who spearheaded experimental work at IIT Kanpur, and great help from Anirban Banerjee on the xenophagy experiments. Big congratulations to our first authors of the study Saman and Deepak and to the entire team!
And the icing on the cake is: @TheHurleyLab commentary on our work! See thread below for our key findings.
In @eLife: MATR3 is essential for oocyte growth and maturation quality through a dual molecular mechanism doi.org/10.7554/eLife.110703…
In @eLife: PRMT1-SFPQ regulates intron retention to control matrix gene expression during craniofacial development doi.org/10.7554/eLife.101386…
ATG8 protein clustering: a HOTS topic in autophagy: link.springer.com/article/10…
LC3 forms functional nanoclusters on autophagosomes: link.springer.com/article/10…
De novo design of semisynthetic conduction pores: nature.com/articles/s41594-0…
ShorterLab retweeted
A targeted treatment for a rare genetic form of ALS has met its main goal in a Phase 3 trial.
Ulefnersen is designed to reduce production of the FUS protein, which can build up in motor neurons in people with FUS-ALS. In the FUSION study, the therapy performed significantly better than placebo on a combined measure that included function and survival.
Detailed results have not yet been released, but the companies are now discussing potential expedited approval pathways with regulators.
Read more: bit.ly/4d3Oq2e
#ALS #ALSTreatment #ALSResearch #ALSNewsToday #Bionews
Intervening in neurodegenerative disease: today.rowan.edu/news/2026/09…
Loss of TDP-43 function drives cryptic circular RNAs in neurodegenerative diseases: biorxiv.org/content/10.64898…
TDP-43 dysfunction induces cryptic circular RNAs in ALS/FTD: biorxiv.org/content/10.64898…
Restoring multiple TDP-43 cryptic targets, but not solely Unc13a, rescues motor neuron disease: biorxiv.org/content/10.64898…
Spatiotemporal characterization of Alzheimer disease pathology in living human brain tissue: nature.com/articles/s41467-0…
ShorterLab retweeted
Happy to share the revised and now published in Cell Systems version of our paper, where we explore why dCas9-KRAB(KOX1) protein levels drop so drastically after neuronal differentiation in WTC11 and KOL2.1J iPSC lines.
Paper: doi.org/10.1016/j.cels.2026.…
A design approach for bitopic kinase inhibitors: nature.com/articles/s41586-0…
Direct cell-to-cell transmission of retrotransposons: cell.com/cell/fulltext/S0092…
Ionis announces positive topline results from Phase 3 FUSION study of ulefnersen marking significant milestone in advancing first potential disease modifying treatment for FUS-ALS: ir.ionis.com/news-releases/n…
Otsuka Announces Transformative Phase 3 FUSION Results for Ulefnersen, Bringing the FUS-ALS Community Closer to a Potential Targeted Treatment: otsuka-us.com/news/otsuka-an…