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

EMBO Molecular Medicine

Jul 1, 2019

Maname BenyellesPatrick Revy

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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

Down-Regulation
Embryo
Enzyme Stability
Fibroblasts
Ribosomes
RNA
RNA, Messenger
Vitamin D Deficiency
Poly(A)-specific ribonuclease
Protein p53
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Impaired telomere integrity and rRNA biogenesis in PARN-deficient patients and knock-out models

EMBO Molecular Medicine

Jul 1, 2019

Maname BenyellesPatrick Revy

PMID: 31273937

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

Down-Regulation
Embryo
Enzyme Stability
Fibroblasts
Ribosomes

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