显性负效应作为一个患有遗传性痉挛性截瘫的大家族中SPAST基因突变的新机制。 - Suppr

Dominant negative effect as a novel mechanism of SPAST gene mutation in a large family with hereditary spastic paraplegia.

作者信息

Deng Ke, Ruan Haibo, Yu Feifei, Pei Zhenle, Xu Congjian, Zhang Shuo

机构信息

Shanghai Ji Ai Genetics & IVF Institute, Obstetrics and Gynecology Hospital of Fudan University, Shanghai 200000, China.

Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Shanghai 200000, China.

出版信息

Genes Dis. 2023 Oct 27;11(5):101152. doi: 10.1016/j.gendis.2023.101152. eCollection 2024 Sep.

DOI:10.1016/j.gendis.2023.101152

PMID:38882014

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11176630/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d13/11176630/c9b79d42e100/gr1.jpg

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Hum Mol Genet. 2016 Mar 15;25(6):1088-99. doi: 10.1093/hmg/ddv632. Epub 2016 Jan 6.

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Cell Mol Life Sci. 2015 Nov;72(22):4237-55. doi: 10.1007/s00018-015-2000-5. Epub 2015 Jul 31.

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J Neurosci. 2014 Jan 29;34(5):1856-67. doi: 10.1523/JNEUROSCI.3309-13.2014.

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Dominant negative effect as a novel mechanism of SPAST gene mutation in a large family with hereditary spastic paraplegia.

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