Human premature aging, DNA repair and RecQ helicases

RM Brosh Jr, VA Bohr - Nucleic acids research, 2007 - academic.oup.com
Genomic instability leads to mutations, cellular dysfunction and aberrant phenotypes at the
tissue and organism levels. A number of mechanisms have evolved to cope with …

Glutathione as a redox biomarker in mitochondrial disease—Implications for therapy

GM Enns, TM Cowan - Journal of clinical medicine, 2017 - mdpi.com
Technical advances in the ability to measure mitochondrial dysfunction are providing new
insights into mitochondrial disease pathogenesis, along with new tools to objectively …

Mitochondrial dysfunction in some oxidative stress-related genetic diseases: Ataxia-Telangiectasia, Down Syndrome, Fanconi Anaemia and Werner Syndrome

FV Pallardó, A Lloret, M Lebel, M d'Ischia, VC Cogger… - Biogerontology, 2010 - Springer
Oxidative stress is a phenotypic hallmark in several genetic disorders characterized by
cancer predisposition and/or propensity to premature ageing. Here we review the published …

Fanconi anemia: a DNA repair disorder characterized by accelerated decline of the hematopoietic stem cell compartment and other features of aging

RM Brosh Jr, M Bellani, Y Liu, MM Seidman - Ageing research reviews, 2017 - Elsevier
Fanconi Anemia (FA) is a rare autosomal genetic disorder characterized by progressive
bone marrow failure (BMF), endocrine dysfunction, cancer, and other clinical features …

Vitamin C restores healthy aging in a mouse model for Werner syndrome

L Massip, C Garand, ER Paquet… - … publication of the …, 2009 - pmc.ncbi.nlm.nih.gov
Werner syndrome (WS) is a premature aging disorder caused by mutations in a RecQ-like
DNA helicase. Mice lacking the helicase domain of the WRN homologue exhibit many …

Nonfunctional mutant Wrn protein leads to neurological deficits, neuronal stress, microglial alteration, and immune imbalance in a mouse model of Werner syndrome

CW Hui, MK St-Pierre, J Detuncq, L Aumailley… - Brain, behavior, and …, 2018 - Elsevier
Werner syndrome (WS) is a premature aging disorder caused by mutations in a RecQ-family
DNA helicase, WRN. Mice lacking part of the helicase domain of the WRN orthologue exhibit …

Direct and indirect roles of RECQL4 in modulating base excision repair capacity

SH Schurman, M Hedayati, ZM Wang… - Human molecular …, 2009 - academic.oup.com
RECQL4 is a human RecQ helicase which is mutated in approximately two-thirds of
individuals with Rothmund–Thomson syndrome (RTS), a disease characterized at the …

Colorimetric assay of glutathione based on the spontaneous disassembly of aggregated gold nanocomposites conjugated with water-soluble polymer

N Uehara, K Ookubo, T Shimizu - Langmuir, 2010 - ACS Publications
This article describes the glutathione-triggered disassembly of gold nanocomposites
composed of gold cores and water-soluble copolymers [poly (Nn-isopropylacrylamide-co …

Increased insulin, triglycerides, reactive oxygen species, and cardiac fibrosis in mice with a mutation in the helicase domain of the Werner syndrome gene homologue

L Massip, C Garand, RVN Turaga, F Deschênes… - Experimental …, 2006 - Elsevier
Werner Syndrome (WS) is a rare disorder characterized by the premature onset of a number
of age-related diseases. The gene responsible for WS encodes a DNA …

The role of cellular senescence in Werner syndrome: toward therapeutic intervention in human premature aging

T Davis, FS Wyllie, MJ Rokicki… - Annals of the New …, 2007 - Wiley Online Library
Werner syndrome (WS) is a premature aging disorder used as a model of normal human
aging. WS individuals have several characteristics of normal aging, such as cataracts, hair …