Publications by authors named "Maname Benyelles"
Telomeres are nucleoprotein structures at the end of chromosomes. The telomerase complex, constituted of the catalytic subunit TERT, the RNA matrix hTR and several cofactors, including the H/ACA box ribonucleoproteins Dyskerin, NOP10, GAR1, NAF1 and NHP2, regulates telomere length. In humans, inherited defects in telomere length maintenance are responsible for a wide spectrum of clinical premature aging manifestations including pulmonary fibrosis (PF), dyskeratosis congenita (DC), bone marrow failure and predisposition to cancer.
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- - PARN, a ribonuclease, plays a crucial role in managing mRNA turnover and stabilizing hTR RNA in telomerase, with mutations linked to Høyeraal-Hreidarsson syndrome, a severe telomere disease.
- - Research on HH patients and a PARN knockout cell line showed PARN deficiency impacts telomere length and stability, leading to decreased expression of several telomere-related genes and DKC1 mRNA due to p53 activation.
- - Additionally, PARN deficiency was found to hinder ribosomal RNA production in patient fibroblasts, with complete loss of PARN causing early embryonic lethality that could not be rescued by p53 knockout, highlighting the complex effects