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Towards personalized medicine for amyotrophic lateral sclerosis
Trends in Endocrinology & Metabolism ( IF 10.9 ) Pub Date : 2021-07-26 , DOI: 10.1016/j.tem.2021.07.002 Julien Cassereau 1 , Philippe Corcia 2 , Pascal Reynier 3
中文翻译:
迈向肌萎缩侧索硬化症的个体化药物
更新日期:2021-07-26
Trends in Endocrinology & Metabolism ( IF 10.9 ) Pub Date : 2021-07-26 , DOI: 10.1016/j.tem.2021.07.002 Julien Cassereau 1 , Philippe Corcia 2 , Pascal Reynier 3
Affiliation
Mohassel et al. provide unprecedented dichotomy of consequences on sphingolipid biosynthesis between pathogenic variants in the SPTLC1 gene, responsible for either amyotrophic lateral sclerosis (ALS) or hereditary sensory and autonomic neuropathy type 1 (HSAN1). Normalization of sphingolipid levels by siRNA selectively targeting the ALS mutant allele mRNA sheds light on new therapeutic approaches.
中文翻译:
迈向肌萎缩侧索硬化症的个体化药物
莫哈塞尔等人。为SPTLC1基因中致病性变异之间的鞘脂生物合成后果提供了前所未有的二分法,负责肌萎缩侧索硬化症(ALS)或遗传性感觉和自主神经病 1 型(HSAN1)。通过选择性靶向 ALS 突变等位基因 mRNA 的 siRNA 使鞘脂水平正常化为新的治疗方法提供了启示。