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dc.contributor.authorFasullo, Michael
dc.contributor.authorEndres, Laurel
dc.creator
dc.date.accessioned2017-02-16T15:35:10Z
dc.date.available2017-02-16T15:35:10Z
dc.date.issued2015
dc.identifier.citationFasullo, M., & Endres, L. (2015). Nucleotide salvage deficiencies, DNA damage and neurodegeneration. International Journal of Molecular Sciences, 16, 9431-9449. doi:10.3390/ijms16059431en_US
dc.identifier.issn1422-0067
dc.identifier.urihttp://hdl.handle.net/1951/68905
dc.description.abstractNucleotide balance is critically important not only in replicating cells but also in quiescent cells. This is especially true in the nervous system, where there is a high demand for adenosine triphosphate (ATP) produced from mitochondria. Mitochondria are particularly prone to oxidative stress-associated DNA damage because nucleotide imbalance can lead to mitochondrial depletion due to low replication fidelity. Failure to maintain nucleotide balance due to genetic defects can result in infantile death; however there is great variability in clinical presentation for particular diseases. This review compares genetic diseases that result from defects in specific nucleotide salvage enzymes and a signaling kinase that activates nucleotide salvage after DNA damage exposure. These diseases include Lesch-Nyhan syndrome, mitochondrial depletion syndromes, and ataxia telangiectasia. Although treatment options are available to palliate symptoms of these diseases, there is no cure. The conclusions drawn from this review include the critical role of guanine nucleotides in preventing neurodegeneration, the limitations of animals as disease models, and the need to further understand nucleotide imbalances in treatment regimens. Such knowledge will hopefully guide future studies into clinical therapies for genetic diseases.en_US
dc.description.sponsorshipColleges of Nanoscale Sciences and Engineering, State University of New York Polytechnic University, Albany, NY 12203, USAen_US
dc.language.isoen_USen_US
dc.publisherInternational Journal of Molecular Sciencesen_US
dc.subjectnucleotide balanceen_US
dc.subjectreplicating cellsen_US
dc.subjectquiescent cellsen_US
dc.subjectadenosine triphosphateen_US
dc.subjectmitochondriaen_US
dc.subjectoxidative stressen_US
dc.subjectmitochondrial depletionen_US
dc.subjectreplication fidelityen_US
dc.subjectnucleotide salvage enzymesen_US
dc.subjectsignaling kinaseen_US
dc.subjectDNA damageen_US
dc.subjectLesch-Nyhan syndromeen_US
dc.subjectmitochondrial depletion syndromeen_US
dc.subjectataxia telangiectasiaen_US
dc.subjectguanine nucleotidesen_US
dc.subjectneurodegenerationen_US
dc.titleNucleotide Salvage Deficiencies, DNA Damage and Neurodegenerationen_US
dc.title.alternativeInternational Journal of Molecular Sciencesen_US
dc.typeArticleen_US


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