Marc‐David Ruepp

The paper shows that increased 4R Tau RNA contributes to motor neuron degeneration in ALS by reducing viability and that targeting this RNA could be therapeutic.

This study shows how polyGR polypeptides from C9ORF72 disrupt nucleocytoplasmic transport by altering protein affinity for the nuclear pore FG barrier, leading to biphasic transport outcomes and protein aggregation.

This study shows how FUS's RNA-binding and condensation properties shape its function in nuclear organization and DNA damage response through distinct and synergistic mechanisms.

This study introduces β-sheet breaking proline residues into FUS prion-like domain to prevent aggregation and toxicity while preserving phase separation and function.

This study identifies RNA G-quadruplex remodelling as the key mechanism by which temperature modulates hnRNPH1-mediated alternative splicing of RBM3.

This study examines how full-length and C-terminally truncated progranulin affects cell proliferation, colony formation, and migration in HepG2 and U87 cells.

The paper develops U7 snRNA therapeutics to correct TDP-43-dependent mis-splicing in ALS, restoring gene expression and neuronal function in human iPSC-derived neurons.

The paper evaluates 23 commercial antibodies for detecting FET proteins, identifies specific ones, and provides a validated panel for reliable research.

The paper generates isogenic iPSC lines with a C9ORF72 G4C2 repeat expansion to model ALS and FTD, showing both loss- and gain-of-function pathologies.

This study uses single-cell RNA sequencing to identify shared mitochondrial dysfunction in motor neurons across FUS and TARDBP ALS mutations, suggesting common toxic mechanisms.

The paper describes the generation and validation of C9orf72 repeat expansion knock-in iPSC lines for ALS and FTD research, showing they differentiate into neurons and display disease-related pathologies.

This study identifies HNRNPH1 as a key regulator of RBM3 expression through cold-induced exon skipping, offering potential therapeutic targets for neuroprotection.

This study identifies RBM39's role in autoregulating its own pre-mRNA splicing through interactions with U1 and U2 snRNPs, offering insights for alternative cancer therapies.

The paper develops a method to purify phase-separated FUS droplets and shows that LLPS alters FUS interactome composition, linking it to chromatin remodeling and mitochondrial function in ALS.

This study shows that FUS-dependent liquid-liquid phase separation is essential for early DNA damage response activation and repair complex assembly.

This study identifies how ALS-causative FUS mutations disrupt RNA processing and autoregulation, with implications for broader ALS genetic interactions.

The paper shows FUS regulates snoRNA processing into sdRNAs, which can influence gene expression and may serve as biomarkers.