• Publications
  • Influence
Mitochondrial toxicity of nrti antiviral drugs: an integrated cellular perspective
TLDR
This review characterizes the pharmacological mechanisms and pathways that are involved in mitochondrial dysfunction caused by NRTIs, and suggests opportunities for future pharmacological research. Expand
Mitochondrial DNA in human malignancy.
TLDR
Mitochondrial genomic aberrations reported in solid tumors of the breast, colon, stomach, liver, kidney, bladder, head/neck and lung as well as for hematologic diseases such as leukemia, myelodysplastic syndrome and lymphoma are reviewed. Expand
Inherited mitochondrial diseases of DNA replication.
  • W. Copeland
  • Biology, Medicine
  • Annual review of medicine
  • 10 January 2008
TLDR
This review focuses on the current understanding of nuclear gene mutations that produce mtDNA alterations and cause mitochondrial depletion syndrome (MDS), progressive external ophthalmoplegia (PEO), ataxia-neuropathy, or mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). Expand
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations
Mutations in the POLG gene have emerged as one of the most common causes of inherited mitochondrial disease in children and adults. They are responsible for a heterogeneous group of at least 6 majorExpand
POS5 Gene of Saccharomyces cerevisiae Encodes a Mitochondrial NADH Kinase Required for Stability of Mitochondrial DNA
TLDR
The POS5 NADH kinase is required for mitochondrial DNA stability with a critical role in detoxification of reactive oxygen species, and results predict a role for NADH Kinase in human mitochondrial diseases. Expand
Eukaryotic DNA Polymerases: Proposal for a Revised Nomenclature*
TLDR
This work presents a meta-anatomy of DNA replication and its role in disease and Immunity that has never been seen before in the clinic and shows clear patterns in the immune response to various types of viruses. Expand
DNA polymerase gamma and mitochondrial disease: understanding the consequence of POLG mutations.
TLDR
The group and others have characterized a number of the more common and interesting mutations, as well as those disease mutations in the DNA polymerase gamma accessory subunit, which provide clues to the mechanisms leading to the disease state. Expand
Long Patch Base Excision Repair in Mammalian Mitochondrial Genomes*
TLDR
The presence of a 5′-exo/endonuclease in the mitochondrial extracts of mouse and human cells that is involved in the repair of a lyase-resistant AP site analog via multinucleotide incorporation, upstream and downstream to the lesion site is shown. Expand
Differential Incorporation and Removal of Antiviral Deoxynucleotides by Human DNA Polymerase γ*
TLDR
Although their greatest inhibitory effects are through incorporation and chain termination, persistence of these analogs in DNA and inhibition of exonucleolytic proofreading may also contribute to mitochondrial toxicity. Expand
Defects in mitochondrial DNA replication and human disease
  • W. Copeland
  • Biology, Medicine
  • Critical reviews in biochemistry and molecular…
  • 1 April 2010
TLDR
This review focuses on the current knowledge of genetic defects of mtDNA replication (POLG, POLG2, C10orf2) and nucleotide metabolism (TYMP, TK2, DGOUK, and RRM2B) that cause instability of mt DNA and mitochondrial disease. Expand
...
1
2
3
4
5
...