Altered autophagy in KANSL1 haploinsufficient iPSC-derived astrocytes
Denise Duineveld, Katrin Linda, Carlos González, Imke Schuurmans, Chantal Bijnagte-Schoenmaker, Ka Man Wu, Astrid Oudakker, Brooke Latour, Nael Nadif Kasri · FENS Forum 2024
Koolen-de Vries syndrome (KdVS) is a rare genetic disorder marked by intellectual disability and epilepsy, resulting from haploinsufficiency of KANSL1. This gene encodes a scaffolding protein within the non-specific lethal (NSL) complex which is crucial for histone modifications. The NSL complex regulates the expression of housekeeping, DNA repair, and autophagy genes. Autophagy, a pivotal process delivering cytoplasmic material to the lysosome for degradation, plays a key role in brain development and homeostasis maintenance; defects in autophagy have been linked to neurodevelopmental disorde
ePoster · Neuroscience