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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.
Malinski, Bartosz; Vertemara, Jacopo; Faustini, Elena; Ladenvall, Claes; Norberg, Anna; Zhang, Yuming; von Castelmur, Eleonore; Baliakas, Panagiotis; Tisi, Renata; Cammenga, Jörg; Lottersberger, Francisca.
Afiliación
  • Malinski 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.
  • Lottersberger F; Department of Laboratory Medicine, Lund University, Lund 22184, Sweden.
Hum Mol Genet ; 32(19): 2901-2912, 2023 09 16.
Article en En | MEDLINE | ID: mdl-37440454
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Texto completo: 1 Colección: 01-internacional Asunto principal: Telomerasa / Envejecimiento Prematuro Límite: Humans Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Suecia
Texto completo
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XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Asunto principal: Telomerasa / Envejecimiento Prematuro Límite: Humans Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Suecia