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oai: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

00925njm 22002777a 4500 dc 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 author 2019-08 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. 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 mutation of Transportin 3 gene that causes limb girdle muscular dystrophy 1F induces protection against HIV-1 infection