Darius Ebrahimi‐Fakhari

This study develops a TECPR2 knock-in mouse model and shows that AAV9-mediated gene therapy improves mechanosensory function, gait, and startle responses in neonatal mice with TECPR2 deficiency.

The paper uses a CRISPR/Cas9 screen to identify genes modulating ATG9A trafficking in a neuronal model of AP-4 deficiency, revealing ANPEP and NPM1 as key regulators.

The paper describes the clinical, neuroimaging, and molecular features of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability, providing variant interpretation guidelines and carrier frequency estimates.