来自晚发性Tay-Sachs病（hexa相关成年性gm2神经节脂质沉积症）患者的三种人诱导多能干细胞（hiPSC）系的生成

IF 0.7 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2025-08-09 DOI:10.1016/j.scr.2025.103801

Gorka Fernández-Eulate , Céline Banal , Solène Renault , Nathalie Lefort , Yann Nadjar

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引用次数: 0

摘要

迟发性Tay-Sachs （LOTS）病是由与溶酶体酶β-六糖氨酸酶a缺乏相关的HEXA基因突变引起的，最终导致神经节苷脂GM2的积累。Tay-Sachs病表现出不同年龄的神经学表现，主要表现为脊髓运动神经元（SMN）变性。c.805G >；在lot患者中，HEXA基因的A （p.Gly269Ser）突变最为常见，并且与较高的残留活性相关。然而，由于没有相关的实验模型来研究lot， SMN退化的机制尚不清楚。

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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 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.

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来源期刊

Stem cell research 生物-生物工程与应用微生物

CiteScore

2.20

自引率

8.30%

发文量

338

审稿时长

55 days

期刊介绍： Stem Cell Research is dedicated to publishing high-quality manuscripts focusing on the biology and applications of stem cell research. Submissions to Stem Cell Research, may cover all aspects of stem cells, including embryonic stem cells, tissue-specific stem cells, cancer stem cells, developmental studies, stem cell genomes, and translational research. Stem Cell Research publishes 6 issues a year.