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...
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Elsevier
2025-09-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506125001515 |
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| author | Gorka Fernández-Eulate Céline Banal Solène Renault Nathalie Lefort Yann Nadjar |
| author_facet | Gorka Fernández-Eulate Céline Banal Solène Renault Nathalie Lefort Yann Nadjar |
| author_sort | Gorka Fernández-Eulate |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-07056d7a08ce484fbd8fca8e16f85ea5 |
| institution | Kabale University |
| issn | 1873-5061 |
| language | English |
| publishDate | 2025-09-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj-art-07056d7a08ce484fbd8fca8e16f85ea52025-08-20T04:02:50ZengElsevierStem Cell Research1873-50612025-09-018710380110.1016/j.scr.2025.103801Generation of three human induced pluripotent stem cell (hiPSC) lines from patients with Late-Onset Tay-Sachs disease (HEXA-related adult-onset GM2-gangliosidosis)Gorka Fernández-Eulate0Céline Banal1Solène Renault2Nathalie Lefort3Yann Nadjar4Sorbonne Université, INSERM UMRS 974, Institut de Myologie, Centre de recherche en Myologie, 75013 Paris, France; INSERM U1151, CNRS UMR8253, Necker-Enfants Malades Institute, BioSPC (ED562), Université Paris Cité, 75015 Paris, FranceUniversité Paris Cité, iPSC Core Facility, Institut Imagine, INSERM UMR U1163, 75015 Paris, FranceUniversité Paris Cité, iPSC Core Facility, Institut Imagine, INSERM UMR U1163, 75015 Paris, FranceUniversité Paris Cité, iPSC Core Facility, Institut Imagine, INSERM UMR U1163, 75015 Paris, FranceSorbonne Université, INSERM UMRS 974, Institut de Myologie, Centre de recherche en Myologie, 75013 Paris, France; INSERM U1151, CNRS UMR8253, Necker-Enfants Malades Institute, BioSPC (ED562), Université Paris Cité, 75015 Paris, France; Neuro-Metabolism Unit, Reference Center for Metabolic and Lysosomal Neurological Diseases, Neurology Department, Hôpital Pitié-Salpêtrière, 75013 Paris, France; Corresponding author at: Neuro-Metabolism Unit, Reference Center for Metabolic and Lysosomal Neurological Diseases, Neurology Department, Hôpital Pitié-Salpêtrière, 75013 Paris, France.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.http://www.sciencedirect.com/science/article/pii/S1873506125001515 |
| spellingShingle | Gorka Fernández-Eulate Céline Banal Solène Renault Nathalie Lefort Yann Nadjar Generation of three human induced pluripotent stem cell (hiPSC) lines from patients with Late-Onset Tay-Sachs disease (HEXA-related adult-onset GM2-gangliosidosis) Stem Cell Research |
| title | Generation of three human induced pluripotent stem cell (hiPSC) lines from patients with Late-Onset Tay-Sachs disease (HEXA-related adult-onset GM2-gangliosidosis) |
| title_full | Generation of three human induced pluripotent stem cell (hiPSC) lines from patients with Late-Onset Tay-Sachs disease (HEXA-related adult-onset GM2-gangliosidosis) |
| title_fullStr | Generation of three human induced pluripotent stem cell (hiPSC) lines from patients with Late-Onset Tay-Sachs disease (HEXA-related adult-onset GM2-gangliosidosis) |
| title_full_unstemmed | Generation of three human induced pluripotent stem cell (hiPSC) lines from patients with Late-Onset Tay-Sachs disease (HEXA-related adult-onset GM2-gangliosidosis) |
| title_short | Generation of three human induced pluripotent stem cell (hiPSC) lines from patients with Late-Onset Tay-Sachs disease (HEXA-related adult-onset GM2-gangliosidosis) |
| title_sort | generation of three human induced pluripotent stem cell hipsc lines from patients with late onset tay sachs disease hexa related adult onset gm2 gangliosidosis |
| url | http://www.sciencedirect.com/science/article/pii/S1873506125001515 |
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