Neurodevelopmental alterations are key drivers of SPG56.

D. Galatolo Devid Damiani V. Naef Matteo Baggiani Carla Cona Giuseppe Neri C. Dell'Amico Ugo Borello Marco Onorati M. Marchese F. Santorelli

Jul 2026 · Human Molecular Genetics · Vol 35 16 · 0 citations

Medicine

TL;DR

Combined transcriptomics profiling in cyp2u1-/- zebrafish and SPG56 patient iPSC-derived cortical neurons supports impaired neural network development as a key disease mechanism.

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