Loss of IVNS1ABP, a gigaxonin paralogue, leads to a progeroid neuropathy due to impaired proteostasis
Carine Bonnard, Ain Nur Ali, Yuan Fang, Kiat Y. Tan, Yan T. Lim, Puck Wee Chan, Nardev Ramanathan, Nur A.B.M. Kamsani, Vindhya Chaganty, Ding Xiong, Ye Sing Tan, Shu-Min Chou, Marwa Chourabi, Gunaseelan Narayanan, Alvin Yu Jin Ng, , 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.
medRxiv · Oct 23, 2024 · PreprintGenetic & Genomic Medicine