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 …

Identification of a nuclear exosome decay pathway for processed transcripts

N Meola, M Domanski, E Karadoulama, Y Chen… - Molecular cell, 2016 - cell.com
The RNA exosome is fundamental for the degradation of RNA in eukaryotic nuclei. Substrate
targeting is facilitated by its co-factor Mtr4p/hMTR4, which links to RNA-binding protein …

Targeting RNA for processing or destruction by the eukaryotic RNA exosome and its cofactors

JC Zinder, CD Lima - Genes & development, 2017 - genesdev.cshlp.org
The eukaryotic RNA exosome is an essential and conserved protein complex that can
degrade or process RNA substrates in the 3′-to-5′ direction. Since its discovery nearly …

Small nucleolar RNAs tell a different tale

J Kufel, P Grzechnik - Trends in Genetics, 2019 - cell.com
Transcribing RNA Polymerase II interacts with multiple factors that orchestrate maturation
and stabilisation of messenger RNA. For the majority of noncoding RNAs, the polymerase …

Telomerase mechanism of telomere synthesis

RA Wu, HE Upton, JM Vogan… - Annual review of …, 2017 - annualreviews.org
Telomerase is the essential reverse transcriptase required for linear chromosome
maintenance in most eukaryotes. Telomerase supplements the tandem array of simple …

A tale of non-canonical tails: gene regulation by post-transcriptional RNA tailing

S Yu, VN Kim - Nature Reviews Molecular Cell Biology, 2020 - nature.com
RNA tailing, or the addition of non-templated nucleotides to the 3′ end of RNA, is the most
frequent and conserved type of RNA modification. The addition of tails and their composition …

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 …

[HTML][HTML] Molecular basis of the human ribosomopathy Shwachman-Diamond syndrome

AJ Warren - Advances in biological regulation, 2018 - Elsevier
Mutations that target the ubiquitous process of ribosome assembly paradoxically cause
diverse tissue-specific disorders (ribosomopathies) that are often associated with an …