Generation of three human induced pluripotent stem cell (hiPSC) lines from patients with Late-Onset Tay-Sachs disease (HEXA-related adult-onset GM2-gangliosidosis)
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...
Saved in:
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-09-01
|
| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506125001515 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| 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. |
|---|---|
| ISSN: | 1873-5061 |