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AI赋能ProAPOBECs RNA碱基编辑系统,为自闭症等多种遗传疾病提供全新治疗策略 公司新闻 广州派真生物技术有限公司

15 对 Mef2c mRNA C104 的编辑率达 43%,显著优于CRISPR/Cas 系统。将 CU5.15 装入可穿越血脑屏障的 AAV-PHP.eB 载体,单次尾静脉注射 L35P+...
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Rare Forms of Autosomal Recessive Spinocerebellar Ataxia Associated with Mutations in the ANO10 (ATX-ANO10) and SYNE1 (ATX-SYNE1) Genes | ...

and c.T104C (p.L35P) of uncertain significance. In theSYNE1gene, the previously undescribed nonsense mutation c.C8911T (p.Q2971X) and the known pathogenic substitut... https://doi.org/10.1134/S1022795422040111ArticleGoogle ScholarRyzhkova, O. P., Kardymon, O. L., Prokhorchuk, E. B., et al., Guidelines for the interpretation of human DN...

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抗体|Rabbit体内培养的Homo sapiens (Human) PALB2 Antibody –华美生物

Via its WD repeats is proposed to scaffold a HR complex containing RAD51C and BRCA2 which is thought to play a role in HR-mediated DNA repair. Essential partner of B... PMID: 28418444Findings establish L35P as the first pathogenic missense mutation in PALB2 and directly demonstrate the requirement of the PALB2-BRCA1 interaction for...

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Whole-brain in vivo base editing reverses behavioral changes in Mef2c-mutant mice | Nature Neuroscience

p.L35P) in vivo in mice. We first constructed Mef2cL35P heterozygous mice. Male heterozygous mice exhibited hyperactivity, repetitive behavior and social abnormalities. We then programmed AeCBE to edit the mutated C·G base pairs of Mef2c in the mouse brain through the intravenous injection of blood–brain barrier-crossing adeno-associa...
nature.com
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