Human RecQ helicases in DNA repair, recombination, and replication

DL Croteau, V Popuri, PL Opresko… - Annual review of …, 2014 - annualreviews.org
RecQ helicases are an important family of genome surveillance proteins conserved from
bacteria to humans. Each of the five human RecQ helicases plays critical roles in genome …

Werner syndrome: clinical features, pathogenesis and potential therapeutic interventions

J Oshima, JM Sidorova, RJ Monnat Jr - Ageing research reviews, 2017 - Elsevier
Werner syndrome (WS) is a prototypical segmental progeroid syndrome characterized by
multiple features consistent with accelerated aging. It is caused by null mutations of the …

DNA repair deficiency in neurodegeneration

DK Jeppesen, VA Bohr, T Stevnsner - Progress in neurobiology, 2011 - Elsevier
Deficiency in repair of nuclear and mitochondrial DNA damage has been linked to several
neurodegenerative disorders. Many recent experimental results indicate that the post-mitotic …

Telomere shortening in human diseases

CM Kong, XW Lee, X Wang - The FEBS journal, 2013 - Wiley Online Library
The discovery of telomeres dates back to the early 20th century. In humans, telomeres are
heterochromatic structures with tandem DNA repeats of 5′‐TTAGGG‐3′ at the …

Physiological consequences of defects in ERCC1–XPF DNA repair endonuclease

SQ Gregg, AR Robinson, LJ Niedernhofer - DNA repair, 2011 - Elsevier
ERCC1–XPF is a structure-specific endonuclease required for nucleotide excision repair,
interstrand crosslink repair, and the repair of some double-strand breaks. Mutations in …

Understanding cancer development processes after HZE-particle exposure: roles of ROS, DNA damage repair and inflammation

DM Sridharan, A Asaithamby, SM Bailey… - Radiation …, 2015 - meridian.allenpress.com
During space travel astronauts are exposed to a variety of radiations, including galactic
cosmic rays composed of high-energy protons and high-energy charged (HZE) nuclei, and …

Bloom's syndrome: Why not premature aging?: A comparison of the BLM and WRN helicases

C De Renty, NA Ellis - Ageing research reviews, 2017 - Elsevier
Genomic instability is a hallmark of cancer and aging. Premature aging (progeroid)
syndromes are often caused by mutations in genes whose function is to ensure genomic …

Rif1 maintains telomere length homeostasis of ESCs by mediating heterochromatin silencing

J Dan, Y Liu, N Liu, M Chiourea, M Okuka, T Wu, X Ye… - Developmental cell, 2014 - cell.com
Telomere length homeostasis is essential for genomic stability and unlimited self-renewal of
embryonic stem cells (ESCs). We show that telomere-associated protein Rif1 is required to …

RECQL4, the protein mutated in Rothmund-Thomson syndrome, functions in telomere maintenance

AK Ghosh, ML Rossi, DK Singh, C Dunn… - Journal of Biological …, 2012 - ASBMB
Telomeres are structures at the ends of chromosomes and are composed of long tracks of
short tandem repeat DNA sequences bound by a unique set of proteins (shelterin) …

Linking telomere regulation to stem cell pluripotency

L Liu - Trends in Genetics, 2017 - cell.com
Embryonic stem cells (ESCs), somatic cell nuclear transfer ESCs, and induced pluripotent
stem cells (iPSCs) represent the most studied group of PSCs. Unlimited self-renewal without …