This study uses patient-derived iPSCs to model a MIC13 variant causing mitochondrial liver disease, revealing metabolic defects and early fibrosis through multi-omics analysis.

Cell Death and Disease · Sep 15, 2026Peer-reviewedBiochemistry

Mutant Huntingtin impairs neurodevelopment in human brain organoids through CHCHD2-mediated neurometabolic failure

Paweł Lisowski, Selene Lickfett, Agnieszka Rybak‐Wolf, Carmen Menacho, Stephanie Le, Tancredi Massimo Pentimalli, Sofia Notopoulou, Werner Dykstra, Daniel Oehler, Sandra López-Calcerrada, Barbara Mlody, Maximilian Otto, Haijia Wu, Yasmin Richter, Philipp Roth, , Alessandro Prigione

This study shows that mutant Huntingtin causes neurodevelopmental issues in human brain organoids by disrupting CHCHD2, leading to mitochondrial and metabolic problems.

Nature Communications · Aug 22, 2024Peer-reviewedNeuroscience

NECAB2 participates in an endosomal pathway of mitochondrial stress response at striatal synapses

Diones Bueno, Partha Narayan Dey, Teresa Schacht, Christina Wolf, Verena Wüllner, Elena Morpurgo, Liliana Rojas-Charry, Lena Sessinghaus, Petra Leukel, Clemens Sommer, Konstantin Radyushkin, Michael K. E. Schäfer, Luise Florin, Jan Baumgart, Paul Stamm, , Axel Methner

This study identifies NECAB2's role in an endosomal pathway for mitochondrial stress response and repair in striatal synapses, linking its loss to synaptic loss and behavioral deficits.

bioRxiv · Feb 15, 2021 · PreprintNeuroscience