Article

Loss of IVNS1ABP, a gigaxonin paralogue, leads to a progeroid neuropathy due to impaired proteostasis

2024-10-29

Abstract excerpt

<h4>Summary</h4> Impaired proteostasis can induce protein aggregation which is toxic to neuronal cells, contributing to neurodegeneration and other signs of aging. In this study, we delineate an early-onset progressive neuropathy evoking Giant Axonal Neuropathy 1. The causative gene IVNS1ABP encodes a E3-ubiquitin ligase adaptor which is a close gigaxonin paralogue. Patient-derived fibroblasts, iPSCs, and neural p...

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Literature Corpus work: 1bf16119-4668-5ffd-b027-459db3dc4864
DOI: 10.1101/2024.10.23.24315364

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Loss of IVNS1ABP, a gigaxonin paralogue, leads to a progeroid neuropathy due to impaired proteostasisDOI 10.1101/2024.10.23.24315364Read

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