Translation deregulation in human disease

S Tahmasebi, A Khoutorsky, MB Mathews… - … reviews Molecular cell …, 2018 - nature.com
Advances in sequencing and high-throughput techniques have provided an unprecedented
opportunity to interrogate human diseases on a genome-wide scale. The list of disease …

[HTML][HTML] Role of platelet mitochondria: life in a nucleus-free zone

H Melchinger, K Jain, T Tyagi, J Hwa - Frontiers in cardiovascular …, 2019 - frontiersin.org
Platelets are abundant, small, anucleate circulating cells, serving many emerging
pathophysiological roles beyond hemostasis; including active critical roles in thrombosis …

Detection of ultra-rare mutations by next-generation sequencing

MW Schmitt, SR Kennedy, JJ Salk… - Proceedings of the …, 2012 - National Acad Sciences
Next-generation DNA sequencing promises to revolutionize clinical medicine and basic
research. However, while this technology has the capacity to generate hundreds of billions …

[HTML][HTML] Mitochondrial DNA integrity: role in health and disease

P Sharma, H Sampath - Cells, 2019 - mdpi.com
As the primary cellular location for respiration and energy production, mitochondria serve in
a critical capacity to the cell. Yet, by virtue of this very function of respiration, mitochondria …

[HTML][HTML] Ultra-sensitive sequencing reveals an age-related increase in somatic mitochondrial mutations that are inconsistent with oxidative damage

SR Kennedy, JJ Salk, MW Schmitt, LA Loeb - PLoS genetics, 2013 - journals.plos.org
Mitochondrial DNA (mtDNA) is believed to be highly vulnerable to age-associated damage
and mutagenesis by reactive oxygen species (ROS). However, somatic mtDNA mutations …

[HTML][HTML] Species boundaries in the human pathogen Paracoccidioides

DA Turissini, OM Gomez, MM Teixeira… - Fungal Genetics and …, 2017 - Elsevier
The use of molecular taxonomy for identifying recently diverged species has transformed the
study of speciation in fungi. The pathogenic fungus Paracoccidioides spp has been …

[HTML][HTML] Role of oxidative stress in ocular diseases: a balancing act

DY Shu, S Chaudhary, KS Cho, A Lennikov, WP Miller… - Metabolites, 2023 - mdpi.com
Redox homeostasis is a delicate balancing act of maintaining appropriate levels of
antioxidant defense mechanisms and reactive oxidizing oxygen and nitrogen species. Any …

DNA precursor metabolism and genomic stability

CK Mathews - The FASEB Journal, 2006 - Wiley Online Library
Intracellular concentrations of the four deoxyribonucleoside triphosphates (dNTPs) are
closely regulated, and imbalances in the four dNTP pools have genotoxic consequences …

Mitochondrial DNA damage and its consequences for mitochondrial gene expression

SD Cline - Biochimica et Biophysica Acta (BBA)-Gene Regulatory …, 2012 - Elsevier
How mitochondria process DNA damage and whether a change in the steady-state level of
mitochondrial DNA damage (mtDNA) contributes to mitochondrial dysfunction are questions …

DNA polymerase γ in mitochondrial DNA replication and repair

MA Graziewicz, MJ Longley, WC Copeland - Chemical reviews, 2006 - ACS Publications
DNA polymerases are indispensable for maintaining the integrity of the genome, both
through faithful replication of DNA and by repairing damage to DNA. Among the 16 highly …