NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høyeraal–Hreidarsson syndrome

Abstract Telomeres are nucleoprotein structures at the end of chromosomes. The telomerase complex, constituted of the catalytic subunit TERT, the RNA matrix hTR and several cofactors, including the H/ACA box ribonucleoproteins Dyskerin, NOP10, GAR1, NAF1 and NHP2, regulates telomere length. In human...

Ausführliche Beschreibung

Bibliographische Detailangaben

Veröffentlicht in:	Human molecular genetics 2020-04, Vol.29 (6), p.907-922
Hauptverfasser:	Benyelles, Maname, O’Donohue, Marie-Françoise, Kermasson, Laëtitia, Lainey, Elodie, Borie, Raphael, Lagresle-Peyrou, Chantal, Nunes, Hilario, Cazelles, Clarisse, Fourrage, Cécile, Ollivier, Emmanuelle, Marcais, Ambroise, Gamez, Anne-Sophie, Morice-Picard, Fanny, Caillaud, Denis, Pottier, Nicolas, Ménard, Christelle, Ba, Ibrahima, Fernandes, Alicia, Crestani, Bruno, de Villartay, Jean-Pierre, Gleizes, Pierre-Emmanuel, Callebaut, Isabelle, Kannengiesser, Caroline, Revy, Patrick
Format:	Artikel
Sprache:	eng
Schlagworte:	Adaptive immunology Biochemistry, Molecular Biology Cellular Biology Genetics Hematology Human genetics Human health and pathology Immunology Life Sciences Molecular biology Subcellular Processes
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!