Genetics of human telomere biology disorders

P Revy, C Kannengiesser, AA Bertuch - Nature Reviews Genetics, 2023 - nature.com
Telomeres are specialized nucleoprotein structures at the ends of linear chromosomes that
prevent the activation of DNA damage response and repair pathways. Numerous factors …

Regulation of human telomerase in homeostasis and disease

CM Roake, SE Artandi - Nature reviews Molecular cell biology, 2020 - nature.com
Telomerase is a ribonucleoprotein complex, the catalytic core of which includes the
telomerase reverse transcriptase (TERT) and the non-coding human telomerase RNA (hTR) …

Genome-wide association analysis in humans links nucleotide metabolism to leukocyte telomere length

C Li, S Stoma, LA Lotta, S Warner, E Albrecht… - The American Journal of …, 2020 - cell.com
Leukocyte telomere length (LTL) is a heritable biomarker of genomic aging. In this study, we
perform a genome-wide meta-analysis of LTL by pooling densely genotyped and imputed …

An update on the biology and management of dyskeratosis congenita and related telomere biology disorders

MR Niewisch, SA Savage - Expert review of hematology, 2019 - Taylor & Francis
ABSTRACT Introduction: Telomere biology disorders (TBDs) encompass a group of
illnesses caused by germline mutations in genes regulating telomere maintenance, resulting …

Molecular mechanisms of telomere biology disorders

S Grill, J Nandakumar - Journal of Biological Chemistry, 2021 - ASBMB
Genetic mutations that affect telomerase function or telomere maintenance result in a variety
of diseases collectively called telomeropathies. This wide spectrum of disorders, which …

The guardian of the genome revisited: p53 downregulates genes required for telomere maintenance, DNA repair, and centromere structure

E Toufektchan, F Toledo - Cancers, 2018 - mdpi.com
The p53 protein has been extensively studied for its capacity to prevent proliferation of cells
with a damaged genome. Surprisingly, however, our recent analysis of mice expressing a …

Mixed tailing by TENT4A and TENT4B shields mRNA from rapid deadenylation

J Lim, D Kim, Y Lee, M Ha, M Lee, J Yeo, H Chang… - Science, 2018 - science.org
RNA tails play integral roles in the regulation of messenger RNA (mRNA) translation and
decay. Guanylation of the poly (A) tail was discovered recently, yet the enzymology and …

Small-molecule PAPD5 inhibitors restore telomerase activity in patient stem cells

N Nagpal, J Wang, J Zeng, E Lo, DH Moon, K Luk… - Cell Stem Cell, 2020 - cell.com
Genetic lesions that reduce telomerase activity inhibit stem cell replication and cause a
range of incurable diseases, including dyskeratosis congenita (DC) and pulmonary fibrosis …

Integrated analysis of telomerase enzymatic activity unravels an association with cancer stemness and proliferation

N Noureen, S Wu, Y Lv, J Yang, WK Alfred Yung… - Nature …, 2021 - nature.com
Active telomerase is essential for stem cells and most cancers to maintain telomeres. The
enzymatic activity of telomerase is related but not equivalent to the expression of TERT, the …

Telomere biology disorders

MLW Kam, TTT Nguyen, JYY Ngeow - NPJ genomic medicine, 2021 - nature.com
Telomere biology disorders (TBD) are a heterogeneous group of diseases arising from
germline mutations affecting genes involved in telomere maintenance. Telomeres are DNA …