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Novel pathological variants of NHP2 affect N-terminal domain flexibility, protein stability, H/ACA Ribonucleoprotein (RNP) complex formation and telomerase activity.

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Title: Novel pathological variants of NHP2 affect N-terminal domain flexibility, protein stability, H/ACA Ribonucleoprotein (RNP) complex formation and telomerase activity.
Authors: Maliński B; Department of Biomedical and Clinical Sciences, Faculty of Medicine and Health Sciences, Linköping University, Linköping 58185, Sweden., Vertemara J; Dipartimento di Biotecnologie e Bioscienze, Università di Milano-Bicocca, Milan 20126, Italy., Faustini E; Department of Biomedical and Clinical Sciences, Faculty of Medicine and Health Sciences, Linköping University, Linköping 58185, Sweden., Ladenvall C; Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala 90185, Sweden., Norberg A; Klinisk genetik, Norrlands Universitetssjukhus, Umeå 75185, Sweden., Zhang Y; Department of Biomedical and Clinical Sciences, Faculty of Medicine and Health Sciences, Linköping University, Linköping 58185, Sweden., von Castelmur E; Department of Physics, Chemistry and Biology, Linköping University, Linköping 58183, Sweden., Baliakas P; Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala 90185, Sweden., Tisi R; Dipartimento di Biotecnologie e Bioscienze, Università di Milano-Bicocca, Milan 20126, Italy., Cammenga J; Department of Biomedical and Clinical Sciences, Faculty of Medicine and Health Sciences, Linköping University, Linköping 58185, Sweden.; Department of Laboratory Medicine, Lund University, Lund 22184, Sweden., Lottersberger F; Department of Biomedical and Clinical Sciences, Faculty of Medicine and Health Sciences, Linköping University, Linköping 58185, Sweden.
Source: Human molecular genetics [Hum Mol Genet] 2023 Sep 16; Vol. 32 (19), pp. 2901-2912.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Novel pathological variants of NHP2 affect N-terminal domain flexibility, protein stability, H/ACA Ribonucleoprotein (RNP) complex formation and telomerase activity.
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  Data: <searchLink fieldCode="AU" term="%22Maliński+B%22">Maliński B</searchLink>; Department of Biomedical and Clinical Sciences, Faculty of Medicine and Health Sciences, Linköping University, Linköping 58185, Sweden.<br /><searchLink fieldCode="AU" term="%22Vertemara+J%22">Vertemara J</searchLink>; Dipartimento di Biotecnologie e Bioscienze, Università di Milano-Bicocca, Milan 20126, Italy.<br /><searchLink fieldCode="AU" term="%22Faustini+E%22">Faustini E</searchLink>; Department of Biomedical and Clinical Sciences, Faculty of Medicine and Health Sciences, Linköping University, Linköping 58185, Sweden.<br /><searchLink fieldCode="AU" term="%22Ladenvall+C%22">Ladenvall C</searchLink>; Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala 90185, Sweden.<br /><searchLink fieldCode="AU" term="%22Norberg+A%22">Norberg A</searchLink>; Klinisk genetik, Norrlands Universitetssjukhus, Umeå 75185, Sweden.<br /><searchLink fieldCode="AU" term="%22Zhang+Y%22">Zhang Y</searchLink>; Department of Biomedical and Clinical Sciences, Faculty of Medicine and Health Sciences, Linköping University, Linköping 58185, Sweden.<br /><searchLink fieldCode="AU" term="%22von+Castelmur+E%22">von Castelmur E</searchLink>; Department of Physics, Chemistry and Biology, Linköping University, Linköping 58183, Sweden.<br /><searchLink fieldCode="AU" term="%22Baliakas+P%22">Baliakas P</searchLink>; Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala 90185, Sweden.<br /><searchLink fieldCode="AU" term="%22Tisi+R%22">Tisi R</searchLink>; Dipartimento di Biotecnologie e Bioscienze, Università di Milano-Bicocca, Milan 20126, Italy.<br /><searchLink fieldCode="AU" term="%22Cammenga+J%22">Cammenga J</searchLink>; Department of Biomedical and Clinical Sciences, Faculty of Medicine and Health Sciences, Linköping University, Linköping 58185, Sweden.; Department of Laboratory Medicine, Lund University, Lund 22184, Sweden.<br /><searchLink fieldCode="AU" term="%22Lottersberger+F%22">Lottersberger F</searchLink>; Department of Biomedical and Clinical Sciences, Faculty of Medicine and Health Sciences, Linköping University, Linköping 58185, Sweden.
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  Data: <searchLink fieldCode="JN" term="%229208958%22">Human molecular genetics</searchLink> [Hum Mol Genet] 2023 Sep 16; Vol. 32 (19), pp. 2901-2912.
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