A novel pathogenic variant in TNPO3 in a Hungarian family with limb-girdle muscular dystrophy 1F.
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DOI: 10.1016/j.ejmg.2019.05.001
Abstract: Limb-girdle muscular dystrophies (LGMDs) are a group of genetically heterogeneous muscular diseases that predominantly affect the proximal muscles. Pathogenic variants in TNPO3 have been associated with a rare, autosomal dominant limb-girdle muscular dystrophy 1F (LGMD1F)… read more here.
Keywords: limb girdle; muscular dystrophy; variant; tnpo3 ... See more keywords
TNPO3-Mediated Nuclear Entry of the Rous Sarcoma Virus Gag Protein Is Independent of the Cargo-Binding Domain
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DOI: 10.1128/jvi.00640-20
Abstract: RSV Gag nuclear entry is facilitated using three distinct host import factors that interact with nuclear localization signals in the Gag MA and NC domains. Here, we show that the MA region is required for… read more here.
Keywords: import; tnpo3; nuclear entry; gag ... See more keywords
Novel mutation in TNPO3 causes congenital limb-girdle myopathy with slow progression
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DOI: 10.1212/nxg.0000000000000337
Abstract: Objective We report a second family with autosomal dominant transportinopathy presenting with congenital or early-onset myopathy and slow progression, causing proximal and less pronounced distal muscle weakness. Methods Patients had clinical examinations, muscle MRI, EMG,… read more here.
Keywords: muscle; tnpo3; myopathy slow; slow progression ... See more keywords
Transportin-3 Facilitates Uncoating of Influenza A Virus
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DOI: 10.3390/ijms23084128
Abstract: Influenza A viruses (IAVs) are a major global health threat and in the future, may cause the next pandemic. Although studies have partly uncovered the molecular mechanism of IAV–host interaction, it requires further research. In… read more here.
Keywords: iav infection; tnpo3; transportin facilitates; iav replication ... See more keywords