Disease-associated variants alter a novel physiological role of hnRNP H2 in neuronal development
Afonso Lourinho, Marta S. Silva, Emanuel Tahiri, Marco D'Ambrosio, Ana D. Pinto, Saray Calvo-Parra, Giovana De Pietro, Guilherme Galvao, Ana B. Caniceiro, Luís Pereira de Almeida, Paulo S. Pinheiro, Irina Sousa Moreira, Rui Jorge Nobre, Miranda Mele, Andrzej W. Cwetsch, , Rui O. Costa
This study identifies hnRNP H2's role in neuronal development and shows how disease variants disrupt its function, leading to neurodevelopmental defects.
bioRxiv · Oct 8, 2026 · PreprintNeuroscience