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

EMBO Molecular Medicine

Jun 7, 2019

Maname BenyellesPatrick Revy

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 sever...read more

Mentioned in this Paper

PARN gene
TPP1 protein, human
PARN protein, human
Mice, Knockout
Transcript
Knock-out
Anabolism
HOYERAAL-HREIDARSSON Syndrome
Ribosomes
RNA
5
1
11
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Impaired telomere integrity and rRNA biogenesis in PARN-deficient patients and knock-out models

EMBO Molecular Medicine

Jun 7, 2019

Maname BenyellesPatrick Revy

PMID: 31171653

DOI: 10.15252/emmm.201810201

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 sever...read more

Mentioned in this Paper

PARN gene
TPP1 protein, human
PARN protein, human
Mice, Knockout
Transcript
Knock-out
Anabolism
HOYERAAL-HREIDARSSON Syndrome
Ribosomes
RNA
5
1
11

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