Rothstein Lab

Intersting preprint: blocking VPS4a could keep TDP-43 out of exosomes without stopping exosome production. That would suggest that one might be able to block the neuron-to-neuron spread of pathology without shutting down normal vesicle trafficking. biorxiv.org/content/10.648…

Therapeutic targeting of the conserved region within the low-complexity domain of TDP-43 is neuroprotective and extends survival in amyotrophic lateral sclerosis mice nature.com/articles/s4358…

Striatal neuron dysfunction in C9ORF72-FTD/ALS is driven by AIS and potassium channel dysregulation sciencedirect.com/science/articl…

STMN2 protein depletion via translation deficits and stress granules in amyotrophic lateral sclerosis academic.oup.com/brain/advance-…

An open-label Phase 2a study of fasudil in amyotrophic lateral sclerosis: safety and exploratory endpoints tandfonline.com/doi/10.1080/21…

Mitochondria directly interact with the nuclear pore complex nature.com/articles/s4158…

Excited to have shared our work on Nucleoporin210 in a tauopathy model at the Northeast Nuclear Envelope 2026 meeting at Yale (sites.google.com/view/nene2026/…). Thank you to the organizers for putting together such a nice program, and grateful for all the feedback and discussion!

TDP-43 self-assembly is regulated by its disordered NLS-region biorxiv.org/content/10.648…

Downregulation of miRNAs Accompanies Increased HERV-K (HML-2) Expression in Amyotrophic Lateral Sclerosis link.springer.com/article/10.100…

Development and characterization of 3D spinal cord organoids to advance the study of amyotrophic lateral sclerosis link.springer.com/article/10.118…

Two Patients With Juvenile-Onset, Rapidly Progressive Amyotrophic Lateral Sclerosis Associated With an SOD1 Variant (p.Asp125Gly) With Incomplete Penetrance onlinelibrary.wiley.com/doi/10.1002/mu…

The majority of axonal mitochondria in mammalian neurons lack mitochondrial DNA and do not produce ATP biorxiv.org/content/10.110…

A validated antibody toolbox for ALS research elifesciences.org/reviewed-prepr…

Targeting the integrated stress response or Ataxin-2 alleviates neurodegeneration in PolyGR models of C9orf72 associated frontotemporal dementia and amyotrophic lateral sclerosis link.springer.com/article/10.118…

Predictive Cellular Signatures from Live Human Motor Neurons Distinguish TDP-43 ALS and Enable ALS Subtype Stratification biorxiv.org/content/10.648…

Large-scale CSF and plasma proteomics reveal immune, synaptic, and extracellular matrix disruptions across neurodegenerative diseases cell.com/neuron/fulltex…

Cryptic Splicing in ALS: From Driving Disease Progression to Unlocking Novel Therapeutics annualreviews.org/content/journa…

Mapping transcription factor functions in astrocytes using in vivo gain-of-function Perturb-seq science.org/doi/abs/10.112…

Astrocytes connect specific brain regions through plastic networks: nature.com/articles/s4158…

Rab27b: A Modulator of Lysosomal Function and Alpha-Synuclein Clearance in Parkinson's Disease jneurosci.org/content/46/16/…