Genetic & Genomic MedicinemedRxivPreprint
Loss of IVNS1ABP, a gigaxonin paralogue, leads to a progeroid neuropathy due to impaired proteostasis
Carine Bonnard, Ain Nur Ali, Yuan Fang…·Bruno Reversade
This study shows that loss of IVNS1ABP causes a progeroid neuropathy by impairing proteostasis, leading to protein aggregation and lysosomal dysfunction in neuronal cells.