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G

Guillaume M. Hautbergue

University of Sheffield
H指数:34
被引数:5,851

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Adenosine Deaminase-Mediated Purine Dysfunction Leads to DNA Repair Inhibition and Senescence in Sporadic Amyotrophic Lateral Sclerosis

腺苷脱氨酶介导的嘌呤功能障碍导致散发性肌萎缩侧索硬化症中的DNA修复抑制和衰老

2026-09-170
OA
Antisense Dipeptide Repeat Proteins Drive Widescale Purine Metabolism Aberration in C9orf72 Amyotrophic Lateral Sclerosis via ADA

反义二肽重复蛋白通过ADA在C9orf72肌萎缩侧索硬化症中驱动广泛的嘌呤代谢异常

2026-02-260
OAAI
A Y374X TDP43 truncation leads to an altered metabolic profile in amyotrophic lateral sclerosis fibroblasts driven by pyruvate and TCA cycle intermediate alterations

Y374X TDP43截短导致由丙酮酸和TCA循环中间改变驱动的肌萎缩侧索硬化成纤维细胞的代谢谱改变

2023-05-111
OAAI
A cell-penetrant peptide blocking C9ORF72-repeat RNA nuclear export reduces the neurotoxic effects of dipeptide repeat proteins

阻断C9ORF72-repeat RNA核输出的细胞渗透肽可降低二肽重复蛋白的神经毒性作用

2023-03-016
OA
Loss of TMEM106B exacerbates C9ALS/FTD DPR pathology by disrupting autophagosome maturation

TMEM106B的丢失通过破坏自噬体成熟来加剧C9ALS/FTD DPR病理

2022-12-166
OAAI
Low expression of EXOSC2 protects against clinical COVID-19 and impedes SARS-CoV-2 replication

EXOSC2的低表达可防止临床新型冠状病毒肺炎并阻止SARS-CoV-2复制

2022-10-141
OAAI
Atypical TDP-43 protein expression in an ALS pedigree carrying a p.Y374X truncation mutation in TARDBP

在TARDBP中携带p.Y374X截短突变的ALS系谱中的非典型TDP-43蛋白表达

2022-07-246
OAAI
C9ORF72-derived poly-GA DPRs undergo endocytic uptake in iAstrocytes and spread to motor neurons
2022-05-137
OAAI
SRSF1-dependent inhibition of C9ORF72-repeat RNA nuclear export: genome-wide mechanisms for neuroprotection in amyotrophic lateral sclerosis
2021-08-1014
OAAI
Directly converted astrocytes retain the ageing features of the donor fibroblasts and elucidate the astrocytic contribution to human CNS health and disease

直接转化的星形胶质细胞保留了供体成纤维细胞的衰老特征,并阐明了星形胶质细胞对人类中枢神经系统健康和疾病的贡献

2020-12-1337
OAAI
Mutations in the Glycosyltransferase Domain of GLT8D1 Are Associated with Familial Amyotrophic Lateral Sclerosis
2019-02-0161
OAAI