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

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 likel...

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Detalles Bibliográficos
Autores principales: Benyelles, Maname, Episkopou, Harikleia, O'Donohue, Marie‐Françoise, Kermasson, Laëtitia, Frange, Pierre, Poulain, Florian, Burcu Belen, Fatma, Polat, Meltem, Bole‐Feysot, Christine, Langa‐Vives, Francina, Gleizes, Pierre‐Emmanuel, de Villartay, Jean‐Pierre, Callebaut, Isabelle, Decottignies, Anabelle, Revy, Patrick
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6609912/
https://www.ncbi.nlm.nih.gov/pubmed/31273937
http://dx.doi.org/10.15252/emmm.201810201