Rothstein Lab

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/…

TMEM106B C-terminal fragments drive nucleocytoplasmic transport failure and TDP-43 mislocalization in the aging human brain biorxiv.org/content/10.648…

Aberrant SOD1 aggregates in skeletal muscle target fibers in amyotrophic lateral sclerosis link.springer.com/article/10.100…

Biochemical and Immunohistochemical Associations of TDP-43 and Cryptic RNA With Hippocampal and Amygdala Volumetrics in Alzheimer’s Disease onlinelibrary.wiley.com/doi/full/10.10…

TDP-43 impairs glycolysis by sequestering hexokinase 1 in amyotrophic lateral sclerosis link.springer.com/article/10.100…

Decoding neurodegeneration one cell at a time jci.org/articles/view/…

Metabolic signatures of ferritin and TDP-43 co-pathology provide a mechanistic basis for stratified therapeutic approaches in ALS biorxiv.org/content/10.648…

C9orf72 poly(glycine-alanine) knock-in mice exhibit mild rotarod and proteomic changes consistent with amyotrophic lateral sclerosis/frontotemporal dementia academic.oup.com/braincomms/adv…

Exploratory assessment of phosphorylated TDP-43 immunoreactivity in minor salivary glands of patients with ALS link.springer.com/article/10.118…

Characterizing TDP-43 involvement in vascular dementia alz-journals.onlinelibrary.wiley.com/doi/10.1002/al…

Amisodin alleviates TDP-43-associated ALS pathology by inhibiting the trimeric SOD1 researchsquare.com/article/rs-869…

C9orf72-derived dipeptide repeat proteins poly-PR disrupt membrane excitability and synaptic function in cortical neurons sciencedirect.com/science/articl…

C9orf72 hexanucleotide repeat RNA drives transcriptional dysregulation through genome-wide DNA:RNA hybrid G-quadruplexes cell.com/neuron/abstrac…

Impaired nucleocytoplasmic transport in SOD1-mediated ALS link.springer.com/article/10.118…