Tobias Moll

The paper identifies an ALS-associated enhancer within the CAV1 3' UTR, showing how non-coding variants disrupt enhancer function at multiple regulatory levels.

The paper identifies CCDC146 as a modifier of ALS survival through primary cilia dysfunction and shows ASO targeting of CCDC146 rescues ALS phenotypes in human and mouse models.

The paper identifies reduced EXOSC2 expression as protective against SARS-CoV-2 infection and clinical COVID-19 by inhibiting viral replication and upregulating antiviral genes.

This paper identifies GLT8D1 mutations as a cause of ALS by disrupting neurotrophin signaling in lipid rafts through reduced ganglioside expression.

The paper investigates how mitochondrial function affects ALS severity but not risk, identifying specific genetic and expression factors linked to disease progression.

This study identifies 690 candidate ALS genes using a hierarchical Bayesian model, highlighting genetic convergence on the distal axon and functional significance in motor neurons.