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Article

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

6 Jun 2019

Abstract excerpt

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...

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Identifiers

PMID: 31273937
DOI: 10.15252/emmm.201810201

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