Impaired telomere integrity and rRNA biogenesis in PARN-deficient patients and knock-out models.
Benyelles M, Episkopou H, O'Donohue MF, Kermasson L, Frange P, Poulain F, Burcu Belen F, Polat M, Bole-Feysot C, Langa-Vives F, Gleizes PE, de Villartay JP, Callebaut I, Decottignies A, Revy P.
Benyelles M, et al.
EMBO Mol Med. 2019 Jul;11(7):e10201. doi: 10.15252/emmm.201810201. Epub 2019 Jun 6.
EMBO Mol Med. 2019.
PMID: 31273937
Free PMC article.
Using cells from two unrelated HH individuals carrying novel PARN mutations and a human PARN knock-out (KO) cell line with inducible PARN complementation, we found that PARN deficiency affects both telomere length and stability and down-regulates the expression of TRF1, TRF2, TPP …
Using cells from two unrelated HH individuals carrying novel PARN mutations and a human PARN knock-out (KO) cell line with inducible PARN co …