DNA topoisomerases are enzymes that catalyze changes in the topological state of DNA, interconverting relaxed and supercoiled forms, linked (catenated) and unlinked species, and knotted and unknotted DNA. Topological issues in DNA arise due to the intertwined nature of its double-helical structure, which, for example, can lead to overwinding of the DNA duplex during DNA replication and transcription. If left unchanged, this torsion would eventually stop the DNA or RNA polymerases involved in these processes from continuing along the DNA helix. A second topological challenge results from the linking or tangling of DNA during replication. Left unresolved, links between replicated DNA will impede cell division. The DNA topoisomerases prevent and correct these types of topological problems. They do this by binding to DNA and cutting the sugar-phosphate backbone of either one or both of the DNA strands. This transient break allows the DNA to be untangled or unwound, and, at the end of these processes, the DNA backbone is resealed. Since the overall chemical composition and connectivity of the DNA do not change, the DNA substrate and product are chemical isomers, differing only in their topology.
Spinocerebellar ataxia (SCA) is a progressive, degenerative, genetic disease with multiple types, each of which could be considered a neurological condition in its own right. An estimated 150,000 people in the United States have a diagnosis of spinocerebellar ataxia at any given time. SCA is hereditary, progressive, degenerative, and often fatal. There is no known effective treatment or cure. SCA can affect anyone of any age. The disease is caused by either a recessive or dominant gene. In many cases people are not aware that they carry a relevant gene until they have children who begin to show signs of having the disorder.
Dynamin-2 is a protein that in humans is encoded by the DNM2 gene.
Protein kinase C gamma type is an enzyme that in humans is encoded by the PRKCG gene.
Tyrosyl-tRNA synthetase, cytoplasmic, also known as Tyrosine-tRNA ligase, is an enzyme that in humans is encoded by the YARS gene.
Twinkle protein also known as twinkle mtDNA helicase is a mitochondrial protein that in humans is encoded by the TWNK gene located in the long arm of chromosome 10 (10q24.31).
Ataxin-10 is a protein that in humans is encoded by the ATXN10 gene.
Regulator of G-protein signaling 1 is a protein that in humans is encoded by the RGS1 gene.
Ataxin-2-like protein was initially identified in 1996 and designated Ataxin-2 Related protein (A2RP) as the search for the gene causing SCA2 lead to the identification of 2 cDNA clones with high similarity to ATXN2. It was later renamed as ATXN2L. It is a protein that in humans is encoded by the ATXN2L gene.
Calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A is an enzyme that in humans is encoded by the PDE1A gene.
Fibroblast growth factor 14 is a biologically active protein that in humans is encoded by the FGF14 gene.
Gigaxonin also known as kelch-like protein 16 is a protein that in humans is encoded by the GAN gene.
Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha is an enzyme that in humans is encoded by the PDE6A gene.
Puratrophin-1 is a protein that in humans is encoded by the PLEKHG4 gene.
(ADP-ribosyl)hydrolase 3 (ARH3) is an enzyme that in humans is encoded by the ADPRHL2 gene (also called ADPRS). This enzyme reverses the proteins’ post-translational addition of ADP-ribose to serine residues as part of the DNA damage response The enzyme is also known to cleave poly(ADP-ribose) polymers, 1''-O-acetyl-ADP-ribose and alpha-NAD+
Phosphatidylinositol-4-phosphate 5-kinase type-1 beta is an enzyme that in humans is encoded by the PIP5K1B gene.
Aflatoxin B1 aldehyde reductase member 2 is an enzyme that in humans is encoded by the AKR7A2 gene.
Peflin is a protein that in humans is encoded by the PEF1 gene.
Ninjurin-1 is a protein that in humans is encoded by the NINJ1 gene.
James J. Champoux was an American microbiologist who worked at University of Washington and an Elected Fellow of the American Association for the Advancement of Science.
