Impaired telomere integrity and rRNA biogenesis in PARN‐deficient patients and knock‐out models

Abstract PARN, poly(A)‐specific ribonuclease, regulates the turnover of mRNAs and the maturation and stabilization of the hTR RNA component of telomerase. Biallelic PARN mutations were associated with Høyeraal–Hreidarsson (HH) syndrome, a rare telomere biology disorder that, because of its severity,...

Полное описание

Библиографические подробности
Главные авторы: Maname Benyelles, Harikleia Episkopou, Marie‐Françoise O'Donohue, Laëtitia Kermasson, Pierre Frange, Florian Poulain, Fatma Burcu Belen, Meltem Polat, Christine Bole‐Feysot, Francina Langa‐Vives, Pierre‐Emmanuel Gleizes, Jean‐Pierre de Villartay, Isabelle Callebaut, Anabelle Decottignies, Patrick Revy
Формат: Статья
Язык:English
Опубликовано: Springer Nature 2019-06-01
Серии:EMBO Molecular Medicine
Предметы:
Online-ссылка:https://doi.org/10.15252/emmm.201810201