期刊
PLOS PATHOGENS
卷 15, 期 8, 页码 -出版社
PUBLIC LIBRARY SCIENCE
DOI: 10.1371/journal.ppat.1007958
关键词
-
资金
- crowfunding site PRECIPITA from FECYT
- MERCKSALUD Foundation
- Spanish Ministry of Science [FIS PI12/00969, PI16CIII/00034, SAF2016-78480-R]
- Spanish AIDS Research Network [RD16CIII/0002/0001]
- Accion Estrategica en Salud
- Plan Nacional de Investigacion Cientifica, Desarrollo e Innovacion Tecnologica 2016-2020
- Instituto de Salud Carlos III
- European Region Development Fund (FEDER)
- CIBERer-ISCIII - European Regional Development Founds (FEDER) [FIS PI16/00316]
- IIS La Fe [20160388, 2018-0200]
- Fundacion Isabel Gemio
- Asociacion Conquistando Escalones - Spanish LGMD1F patients
- Sara Borrell grant from Instituto de Salud Carlos III
- ISCIII-Subdireccion General de Evaluacion
- European Funding for Regional Development (FEDER)
- Spanish Ministry of Economy and Competitiveness [SAF2016-78480-R, PIE13/00040]
The causative mutation responsible for limb girdle muscular dystrophy 1F (LGMD1F) is one heterozygous single nucleotide deletion in the stop codon of the nuclear import factor Transportin 3 gene (TNPO3). This mutation causes a carboxy-terminal extension of 15 amino acids, producing a protein of unknown function (TNPO3_mut) that is co-expressed with wild-type TNPO3 (TNPO3_wt). TNPO3 has been involved in the nuclear transport of serine/arginine-rich proteins such as splicing factors and also in HIV-1 infection through interaction with the viral integrase and capsid. We analyzed the effect of TNPO3_mut on HIV-1 infection using PBMCs from patients with LGMD1F infected ex vivo. HIV-1 infection was drastically impaired in these cells and viral integration was reduced 16-fold. No significant effects on viral reverse transcription and episomal 2-LTR circles were observed suggesting that the integration of HIV-1 genome was restricted. This is the second genetic defect described after CCR5 Delta 32 that shows strong resistance against HIV-1 infection.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据