关于“合成人ABCB4 mRNA疗法拯救PFIC3的BALB/c.Abcb4小鼠模型中的严重肝病表型”的评论 - Suppr

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超能文献

Comment on "Synthetic human ABCB4 mRNA therapy rescues severe liver disease phenotype in a BALB/c.Abcb4 mouse model of PFIC3".

作者信息

Weber Nicholas D, Martínez-García Javier, González-Aseguinolaza Gloria

机构信息

Vivet Therapeutics S.L., Pamplona Spain.

Division of Gene Therapy and Regulation of Gene Expression, Cima Universidad de Navarra, Pamplona, Spain.

出版信息

J Hepatol. 2022 Mar;76(3):749-751. doi: 10.1016/j.jhep.2021.09.033. Epub 2021 Oct 6.

DOI:10.1016/j.jhep.2021.09.033

PMID:34626730

Abstract

摘要

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Comment on "Synthetic human ABCB4 mRNA therapy rescues severe liver disease phenotype in a BALB/c.Abcb4 mouse model of PFIC3".关于“合成人ABCB4 mRNA疗法拯救PFIC3的BALB/c.Abcb4小鼠模型中的严重肝病表型”的评论

J Hepatol. 2022 Mar;76(3):749-751. doi: 10.1016/j.jhep.2021.09.033. Epub 2021 Oct 6.

Synthetic human ABCB4 mRNA therapy rescues severe liver disease phenotype in a BALB/c.Abcb4 mouse model of PFIC3.人工合成的人类 ABCB4 mRNA 疗法可挽救 BALB/c.Abcb4 小鼠 PFIC3 模型的严重肝疾病表型。

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A missense mutation in ABCB4 gene involved in progressive familial intrahepatic cholestasis type 3 leads to a folding defect that can be rescued by low temperature.参与3型进行性家族性肝内胆汁淤积症的ABCB4基因中的错义突变会导致折叠缺陷，而这种缺陷可通过低温挽救。

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引用本文的文献

Identification of novel ABCB4 variants and genotype-phenotype correlation in progressive familial intrahepatic cholestasis type 3.鉴定 3 型进行性家族性肝内胆汁淤积症中的新型 ABCB4 变异体及其基因型-表型相关性。

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Rescue of infant progressive familial intrahepatic cholestasis type 3 mice by repeated dosing of AAV gene therapy.通过重复给予腺相关病毒（AAV）基因疗法挽救3型婴儿进行性家族性肝内胆汁淤积症小鼠

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Gene Therapy for Acquired and Genetic Cholestasis.获得性和遗传性胆汁淤积的基因治疗

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