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

@article{Benyelles2019ImpairedTI,
  title={Impaired telomere integrity and rRNA biogenesis in PARN‐deficient patients and knock‐out models},
  author={M. Benyelles and H. Episkopou and M. O'Donohue and La{\"e}titia Kermasson and P. Frange and Florian Poulain and Fatma Burcu Belen and M. Polat and C. B{\^o}le-Feysot and Francina Langa-Vives and P. Gleizes and Jean-Pierre de Villartay and I. Callebaut and A. Decottignies and P. Revy},
  journal={EMBO Molecular Medicine},
  year={2019},
  volume={11}
}
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, is likely not exclusively due to hTR down-regulation. Whether PARN deficiency was affecting the expression of telomere-related genes was still unclear. Using cells from two unrelated HH individuals carrying… Expand