2026-04-27T03:42:41Zhttps://repisalud.isciii.es/rest/oai/requestoai:repisalud.isciii.es:20.500.12105/84812024-11-28T17:41:39Zcom_20.500.12105_2052com_20.500.12105_2051com_20.500.12105_15322col_20.500.12105_19609col_20.500.12105_16961col_20.500.12105_16988
Repisalud
author
Rodriguez‑Mora, Sara
author
De Wit, Flore
author
García-Pérez, Javier
author
Bermejo, Mercedes
author
Lopez-Huertas, Maria Rosa
author
Mateos, Elena
author
Marti, Pilar
author
Rocha, Susana
author
Vigon-Hernandez, Lorena
author
Christ, Frauke
author
Debyser, Zeger
author
Vílchez, Juan Jesús
author
Coiras, Mayte
author
Alcamí, José
funder
Fundación Española para la Ciencia y la Tecnología
funder
MERCKSALUD Foundation
funder
Ministerio de Ciencia, Innovación y Universidades (España)
funder
RETICS-Sida (RIS-ISCIII) (España)
funder
Instituto de Salud Carlos III
funder
Unión Europea. Fondo Europeo de Desarrollo Regional (FEDER/ERDF)
funder
Ministerio de Economía y Competitividad (España)
2019-10-07T08:06:59Z
2019-10-07T08:06:59Z
2019-08
PLoS Pathog. 2019 Aug 29;15(8):e1007958
1553-7374
http://hdl.handle.net/20.500.12105/8481
31465518
10.1371/journal.ppat.1007958
1553-7374
PLOS Pathogens
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 CCR5Δ32 that shows strong resistance against HIV-1 infection.
eng
The mutation of Transportin 3 gene that causes limb girdle muscular dystrophy 1F induces protection against HIV-1 infection
journal article
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URL
https://repisalud.isciii.es/bitstreams/2df71a95-be5b-4ec8-bd69-82fe9e0871e1/download
File
MD5
7bfdaa5833e1ecdca8731830af40b7e9
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application/pdf
MutationTransportin3Gene_2019.pdf
URL
https://repisalud.isciii.es/bitstreams/3725ab00-fb03-4ff7-aee1-70a0fedf9596/download
File
MD5
c0a3f431fd36c4fbe580df5408744616
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text/plain
MutationTransportin3Gene_2019.pdf.txt