ShorterLab
@ShorterLab
Countering deleterious phase transitions in ALS/FTD, PD, AD, and related disorders @Penn @PennMedicine @bb_upenn @BMBGGUPENN @PGGUPenn @PennNGG @CAMBUpenn
FUS Mislocalization Rewires a Cortical Gene Network to Drive Cognitive and Behavioral Impairment in ALS: medrxiv.org/content/10.110…
SPIDR enables multiplexed mapping of RNA-protein interactions and uncovers a mechanism for selective translational suppression upon cell stress: Cell cell.com/cell/fulltext/…
If you're tired of AI and stuff...we published CRISPR-based protocols that you can actually use to delete alpha-synuclein (~100% efficiency) or knock it into endogenous locus (~53% eff) in cultured neurons: star-protocols.cell.com/protocols/4339
Amino acid transfer free energies reveal thermodynamic driving forces in biomolecular condensate formation | PNAS pnas.org/doi/10.1073/pn…
PPM1M, an LRRK2-counteracting, phosphoRab12-preferring phosphatase with a potential link to Parkinson’s disease: Cell Reports cell.com/cell-reports/f…
Hamsters with long COVID present distinct transcriptomic profiles associated with neurodegenerative processes in brainstem: nature.com/articles/s4146…
LONP1 loss causes mitochondrial mayhem in β-cells: nature.com/articles/s4225…
LONP1 regulation of mitochondrial protein folding provides insight into beta cell failure in type 2 diabetes: nature.com/articles/s4225…
Human-specific gene expansions contribute to brain evolution: Cell cell.com/cell/fulltext/…
Cell-type-directed network-correcting combination therapy for Alzheimer’s disease: Cell cell.com/cell/fulltext/…
New paper out from Jiali and team. Using @uk_biobank data, we quantified how #ALS and #dementia incidence increase with age in carriers of #C9orf72 expansion, and demonstrated that a common #UNC13A variant nearly doubles disease risk. #ALS #MND #FTD. academic.oup.com/brain/article/…
Biomolecular condensates as regulators of enzymatic reactions: nature.com/articles/s4428…
Scalable human neuronal models of tauopathy producing endogenous seed-competent 4R tau biorxiv.org/content/10.110…
TRAF6 regulates ubiquitination-independent TDP-43 condensation and related neurodegeneration: nature.com/articles/s4138…
The Spliceosomal Peptidyl Prolyl Isomerase Like 1 Interacts with the Low-Complexity Domain of the RNA Binding Protein EWS Modulating Its Phase Separation Behavior | Biochemistry pubs.acs.org/doi/full/10.10…
Transcriptomic and pathological analysis of the hnRNP network reveals glial involvement in FTLD pathological subtypes biorxiv.org/content/10.110…
AAV delivery of RNA editing machinery rescues SUDEP and seizure phenotype in a mouse model of Dravet Syndrome biorxiv.org/content/10.110…
The proteostatic landscape of healthy human oocytes | The EMBO Journal embopress.org/doi/full/10.10…
Amyloid-β disrupts APP-regulated protein aggregation and dissociation from recycling endosomal membranes | The EMBO Journal embopress.org/doi/full/10.10…