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. |
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| 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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| ISSN: | 1460-2083 |
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| DOI: | 10.1093/hmg/ddad114 |
