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

doi:10.1093/hmg/ddaa011

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Article

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

Human molecular genetics - 15 Apr 2020

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

Abstract excerpt

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 humans, inherited defects in telomere length maintenance are responsible for a wide spectrum of clinical premature aging...

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PMID: 31985013
DOI: 10.1093/hmg/ddaa011

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NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høyeraal-Hreidarsson syndrome.PMID 31985013Read ↗

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