Generation of three human induced pluripotent stem cell (hiPSC) lines from patients with Late-Onset Tay-Sachs disease (HEXA-related adult-onset GM2-gangliosidosis)
Summary
Late-Onset Tay-Sachs (LOTS) disease is caused by mutations in the HEXA gene associated with a deficiency in the lysosomal enzyme β-hexosaminidase A, ultimately leading to an accumulation of ganglioside GM2. Tay-Sachs disease presents with heterogeneous neurological manifestations depending on age at onset, LOTS being specifically characterized by spinal motor neuron (SMN) degeneration. The c.805G > A (p.Gly269Ser) mutation in the HEXA gene is the most frequent in patients with LOTS and associated with a higher residual activity. Nevertheless, the mechanisms underlying SMN degeneration are unknown, given that there is no relevant experimental model to study LOTS. Copyright © 2025 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Fernández-Eulate G, Banal C, Renault S, Lefort N, Nadjar Y |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2025 Sep;87:103801 |
| PubMed | 40819571 |
| DOI | 10.1016/j.scr.2025.103801 |