Relevant bibliographies by topics / Mitochondrial DNA depletion syndrome

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Academic literature on the topic 'Mitochondrial DNA depletion syndrome'

Author: Grafiati
Published: 4 June 2021
Last updated: 9 March 2023

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Journal articles on the topic "Mitochondrial DNA depletion syndrome"

1

Millichap, J. Gordon. "Mitochondrial DNA Depletion Syndrome." Pediatric Neurology Briefs 16, no. 11 (November 1, 2002): 82. http://dx.doi.org/10.15844/pedneurbriefs-16-11-3.

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Millichap, J. Gordon. "Myopathic Mitochondrial DNA Depletion Syndrome." Pediatric Neurology Briefs 17, no. 8 (August 1, 2003): 62. http://dx.doi.org/10.15844/pedneurbriefs-17-8-7.

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Tesarova, M., J. A. Mayr, L. Wenchich, H. Hansikova, M. Elleder, K. Blahova, W. Sperl, and J. Zeman. "Mitochondrial DNA Depletion in Alpers Syndrome." Neuropediatrics 35, no. 4 (July 2004): 217–23. http://dx.doi.org/10.1055/s-2004-821081.

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Rahman, S., Taanman J-W, BN Harding, and Morris Aam. "Alpers Syndrome with Mitochondrial Dna Depletion." Clinical Science 103, s47 (July 1, 2002): 51P. http://dx.doi.org/10.1042/cs103051p.

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Filiano, James J., Michael J. Goldenthal, Alexander C. Mamourian, Cara C. Hall, and José Marı́n-Garcı́a. "Mitochondrial DNA depletion in Leigh syndrome." Pediatric Neurology 26, no. 3 (March 2002): 239–42. http://dx.doi.org/10.1016/s0887-8994(01)00377-0.

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Rahman, S., J. W. Taanman, and B. N. Harding. "Alpers syndrome with mitochondrial DNA depletion." Neuropathology and Applied Neurobiology 28, no. 2 (March 2002): 160. http://dx.doi.org/10.1046/j.1365-2990.2002.39286_32.x.

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Basel, Donald. "Mitochondrial DNA Depletion Syndromes." Clinics in Perinatology 47, no. 1 (March 2020): 123–41. http://dx.doi.org/10.1016/j.clp.2019.10.008.

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Wang, Liya, and Staffan Eriksson. "Mitochondrial deoxyguanosine kinase mutations and mitochondrial DNA depletion syndrome." FEBS Letters 554, no. 3 (October 21, 2003): 319–22. http://dx.doi.org/10.1016/s0014-5793(03)01181-5.

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Hong, Ki Teak, Byung Chan Lim, Jin Soo Moon, and Jae Sung Ko. "MPV17-related Hepatocerebral Mitochondrial DNA Depletion Syndrome." Korean Journal of Gastroenterology 77, no. 5 (May 25, 2021): 248–52. http://dx.doi.org/10.4166/kjg.2020.170.

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Taanman, J. W., A. G. Bodnar, J. M. Cooper, A. A. M. Morris, P. T. Clayton, J. V. Leonard, and A. H. V. Schapira. "Molecular Mechanisms in Mitochondrial DNA Depletion Syndrome." Human Molecular Genetics 6, no. 6 (June 1, 1997): 935–42. http://dx.doi.org/10.1093/hmg/6.6.935.

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Dissertations / Theses on the topic "Mitochondrial DNA depletion syndrome"

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Lintell, Nicholas Adrian, and n/a. "DNA Aberrations in Atypical Cancer Cohorts." Griffith University. School of Biomolecular and Biomedical Science, 2006. http://www4.gu.edu.au:8080/adt-root/public/adt-QGU20061009.164402.

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The incidence of Squamous Cell Carcinoma is growing in certain populations to the extent that it is now the most common skin lesion in young men and women in high ultraviolet exposure regions such as Queensland. In terms of incidence up to 45% of the Australian population over 40 years of age is thought to possess the precancerous Solar Keratosis lesion and with a small but significant chance of progression into SCC, understanding the genetic events that play a role in this process is essential. The major aims of this study were to analyse whole blood derived samples for DNA aberrations in gen
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Lintell, Nicholas Adrian. "DNA Aberrations in Atypical Cancer Cohorts." Thesis, Griffith University, 2006. http://hdl.handle.net/10072/365589.

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The incidence of Squamous Cell Carcinoma is growing in certain populations to the extent that it is now the most common skin lesion in young men and women in high ultraviolet exposure regions such as Queensland. In terms of incidence up to 45% of the Australian population over 40 years of age is thought to possess the precancerous Solar Keratosis lesion and with a small but significant chance of progression into SCC, understanding the genetic events that play a role in this process is essential. The major aims of this study were to analyse whole blood derived samples for DNA aberrations in gen
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Martorano, Laura. "The zebrafish orthologue of the human hepatocerebral disease gene MPV17 plays pleiotropic roles in mitochondria." Doctoral thesis, Università degli studi di Padova, 2018. http://hdl.handle.net/11577/3424883.

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Mitochondrial DNA depletion syndromes (MDS) are a group of rare autosomal recessive disorders with early onset and no cure available. MDS are caused by mutations in several nuclear genes, involved in mitochondrial DNA (mtDNA) maintenance, characterized by a strong reduction of mtDNA copy number in affected tissues and severe defects in mitochondrial functionality. Mutations in MPV17, a nuclear gene encoding a mitochondrial inner membrane protein, have been specifically associated with hepatocerebral forms of MDS. However, MPV17 protein function is still unclear, although it has been suggested
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Komulainen, T. (Tuomas). "Disturbances in mitochondrial DNA maintenance in neuromuscular disorders and valproate-induced liver toxicity." Doctoral thesis, Oulun yliopisto, 2015. http://urn.fi/urn:isbn:9789526207230.

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Abstract Mitochondrial DNA depletion and deletions are related to mutations in the nuclear genes responsible for replication and maintenance of mitochondrial DNA (mtDNA). The POLG1 gene encodes the enzyme responsible for replication of mtDNA. A particular feature of the POLG1 mutations is an increased risk of acute liver failure (ALF) upon exposure to sodium valproate (VPA), but the pathomechanism is not resolved. The present work studies the molecular genetic aetiology and clinical phenotypes associated with mtDNA depletion and deletion. Another objective was an investigation of clinical phen
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Hine, Donna Louise. "Mitochondrial DNA depletion and insulin secretion." Thesis, University of Newcastle upon Tyne, 2013. http://hdl.handle.net/10443/1906.

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Type 2 diabetes is an age-related condition and is characterised by a progressive decline in insulin secretion. Mitochondria play a key role in energy generation for insulin secretion. We previously reported an age-related decline in mitochondrial DNA (mtDNA) copy number in isolated human islets. TFAM, mtDNA Transcription Factor A, regulates mtDNA transcription and mtDNA copy number. Aims: We aimed to replicate the percentage decrease in mtDNA copy number that we observed with ageing in human islets, and to explore whether this affected mitochondrial function and insulin secretion. Methods: Tw
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Lomartire, Laura <1982&gt. "Down Syndrome: Neuropsychological phenotype and mitochondrial DNA." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2012. http://amsdottorato.unibo.it/4552/1/Lomartire_Laura_tesi.pdf.

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Introduction. Down Syndrome (DS) is the most known autosomal trisomy, due to the presence in three copies of chromosome 21. Many studies were designed to identify phenotypic and clinical consequences related to the triple gene dosage. However, the general conclusion is a senescent phenotype; in particular, the most features of physiological aging, such as skin and hair changes, vision and hearing impairments, thyroid dysfunction, Alzheimer-like dementia, congenital heart defects, gastrointestinal malformations, immune system changes, appear in DS earlier than in normal age-matched subjects. Th
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Lomartire, Laura <1982&gt. "Down Syndrome: Neuropsychological phenotype and mitochondrial DNA." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2012. http://amsdottorato.unibo.it/4552/.

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Introduction. Down Syndrome (DS) is the most known autosomal trisomy, due to the presence in three copies of chromosome 21. Many studies were designed to identify phenotypic and clinical consequences related to the triple gene dosage. However, the general conclusion is a senescent phenotype; in particular, the most features of physiological aging, such as skin and hair changes, vision and hearing impairments, thyroid dysfunction, Alzheimer-like dementia, congenital heart defects, gastrointestinal malformations, immune system changes, appear in DS earlier than in normal age-matched subjects. Th
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van, der Watt George Frederick. "Whole Blood Mitochondrial DNA Depletion in Human Immunodeficiency Virus-Infected Children." Master's thesis, University of Cape Town, 2010. http://hdl.handle.net/11427/2705.

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Background: Nucleoside reverse transcriptase inhibitors (NRTIs) interfere with mitochondrial DNA polymerase gamma causing significant toxic effects, including fatal lactic acidosis. Little is known about mitochondrial DNA (mtDNA) in human immunodeficiency virus (HIV) infected children who face a lifetime exposure to these agents. We performed a cross sectional observation of mtDNA levels in whole blood in a pediatric population to ascertain the relationship between mtDNA, NRTI regimens and parameters of HIV-infection severity. Methods: Whole blood mt:nDNA ratios were determined by real-time PC
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Rusanen, H. (Harri). "Pathophysiological and clinical consequences of the mitochondrial DNA 3243A→G mutation." Doctoral thesis, University of Oulu, 2000. http://urn.fi/urn:isbn:9514255380.

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Abstract This study describes clinical and biochemical consequences of the 3243A→G mutation in the tRNALeu(UUR) gene of the mitochondrial DNA. Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS syndrome) is usually caused by this mutation. Demyelinating polyneuropathy was observed as a novel feature in a patient with the mutation. Based on electrodiagnostic examination the polyneuropathy was defined as being of the demyelinating, mixed (motor more than sensory) type. In a 1 year follow-up an approximately 7% reduction in both the motor and sensory nerve conduct
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Cupp, John D. "Characterization of the Cellular and Organellar Dynamics that Occur with a Partial Depletion of Mitochondrial DNA when Arabidopsis Organellar DNA Polymerase IB is Mutated." BYU ScholarsArchive, 2012. https://scholarsarchive.byu.edu/etd/3747.

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Plant mitochondrial genomes are large and complex, and the mechanisms for maintaining mitochondrial DNA (mtDNA) remain unclear. Arabidopsis thaliana has two DNA polymerase genes, polIA and polIB, that have been shown to be dual localized to mitochondria and chloroplasts but are unequally expressed within primary plant tissues involved in cell division or cell expansion. PolIB expression is observed at higher levels in both shoot and root apexes, suggesting a possible role in organelle DNA replication in rapidly dividing or expanding cells. It is proposed that both polIA and polIB are required
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Books on the topic "Mitochondrial DNA depletion syndrome"

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Hall, Andrew, and Shamima Rahman. Mitochondrial diseases and the kidney. Edited by Neil Turner. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0340.

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Mitochondrial disease can affect any organ in the body including the kidney. As increasing numbers of patients with mitochondrial disease are either surviving beyond childhood or being diagnosed in adulthood, it is important for all nephrologists to have some understanding of the common renal complications that can occur in these individuals. Mitochondrial proteins are encoded by either mitochondrial or nuclear DNA (mtDNA and nDNA, respectively); therefore, disease causing mutations may be inherited maternally (mtDNA) or autosomally (nDNA), or can arise spontaneously. The commonest renal pheno
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Zilliox, Lindsay, and James W. Russell. Diabetic and Prediabetic Neuropathy. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0115.

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Impaired glucose regulation (IGR) constitutes a spectrum of impaired glucose and metabolic regulation that can result in neuropathy. Several different pathways of injury in the diabetic peripheral nervous system that include metabolic dysregulation induced by metabolic syndrome induce oxidative stress, failure of nitric oxide regulation, and dysfunction of certain key signaling pathways. Oxidative stress can directly injure both dorsal route ganglion neurons and axons. Modulation of the nitric oxide system may have detrimental effects on endothelial function and neuronal survival. Reactive oxi
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Book chapters on the topic "Mitochondrial DNA depletion syndrome"

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El-Hattab, Ayman W. "MPV17-Associated Hepatocerebral Mitochondrial DNA Depletion Syndrome." In Mitochondrial Disorders Caused by Nuclear Genes, 103–12. New York, NY: Springer New York, 2012. http://dx.doi.org/10.1007/978-1-4614-3722-2_6.

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Fernández-Moreno, Miguel A., Luis Vázquez-Fonseca, Sara Palacios Zambrano, and Rafael Garesse. "Mitochondrial DNA: Defects, Maintenance Genes and Depletion." In Mitochondrial Diseases, 69–94. Cham: Springer International Publishing, 2021. http://dx.doi.org/10.1007/978-3-030-70147-5_3.

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Liu, Chun-Yi, Cheng-Feng Lee, Chiung-Hui Hong, and Yau-Huei Wei. "Mitochondrial DNA Mutation and Depletion Increase the Susceptibility of Human Cells to Apoptosis." In Mitochondrial Pathogenesis, 133–45. Berlin, Heidelberg: Springer Berlin Heidelberg, 2004. http://dx.doi.org/10.1007/978-3-662-41088-2_14.

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Scaglia, Fernando. "Mitochondrial DNA Depletion due to Mutations in the TK2 Gene." In Mitochondrial Disorders Caused by Nuclear Genes, 113–21. New York, NY: Springer New York, 2012. http://dx.doi.org/10.1007/978-1-4614-3722-2_7.

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Hofmann, Sabine, Reimar Bezold, Michaela Jaksch, Petra Kaufhold, Bert Obermaier-Kusser, and Klaus-Dieter Gerbitz. "Analysis of the mitochondrial DNA from patients with Wolfram (DIDMOAD) syndrome." In Detection of Mitochondrial Diseases, 209–13. Boston, MA: Springer US, 1997. http://dx.doi.org/10.1007/978-1-4615-6111-8_32.

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Antoun, Ghadi, Skye McBride, Jason R. Vanstone, Turaya Naas, Jean Michaud, Stephanie Redpath, Hugh J. McMillan, et al. "Detailed Biochemical and Bioenergetic Characterization of FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion." In JIMD Reports, 1–9. Berlin, Heidelberg: Springer Berlin Heidelberg, 2015. http://dx.doi.org/10.1007/8904_2015_491.

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Komulainen, Tuomas, Milla-Riikka Hautakangas, Reetta Hinttala, Salla Pakanen, Vesa Vähäsarja, Petri Lehenkari, Päivi Olsen, et al. "Mitochondrial DNA Depletion and Deletions in Paediatric Patients with Neuromuscular Diseases: Novel Phenotypes." In JIMD Reports, 91–100. Berlin, Heidelberg: Springer Berlin Heidelberg, 2015. http://dx.doi.org/10.1007/8904_2015_438.

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Zsurka, Gábor, Genevieve Trombly, Susanne Schöler, Daniel Blei, and Wolfram S. Kunz. "Functional Assessment of Mitochondrial DNA Maintenance by Depletion and Repopulation Using 2’,3’-Dideoxycytidine in Cultured Cells." In Methods in Molecular Biology, 229–40. New York, NY: Springer US, 2023. http://dx.doi.org/10.1007/978-1-0716-2922-2_17.

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"Mitochondrial DNA Depletion Syndromes." In Encyclopedia of Gerontology and Population Aging, 3243. Cham: Springer International Publishing, 2021. http://dx.doi.org/10.1007/978-3-030-22009-9_301540.

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Goldstein, Amy. "MPV17-Related Hepatocerebral Mitochondrial DNA (mtDNA) Depletion Syndrome." In Mitochondrial Case Studies, 179–85. Elsevier, 2016. http://dx.doi.org/10.1016/b978-0-12-800877-5.00020-6.

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Conference papers on the topic "Mitochondrial DNA depletion syndrome"

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Faust, H. E., J. P. Reilly, B. J. Anderson, N. S. Mangalmurti, P. Zhang, T. G. Dunn, B. A. Weaver, et al. "Plasma Mitochondrial DNA Is Associated with Acute Respiratory Distress Syndrome in Sepsis." In American Thoracic Society 2019 International Conference, May 17-22, 2019 - Dallas, TX. American Thoracic Society, 2019. http://dx.doi.org/10.1164/ajrccm-conference.2019.199.1_meetingabstracts.a2715.

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Ramadža, Danijela Petković, Tamara Žigman, Ruža Grizelj, Dorotea Ninković, Lana Omerza, Mirna Natalija Aničić, Marijana Ćorić, et al. "107 Early onset liver failure due to mitochondrial DNA depletion: clinical course of four patients." In 10th Europaediatrics Congress, Zagreb, Croatia, 7–9 October 2021. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2021. http://dx.doi.org/10.1136/archdischild-2021-europaediatrics.107.

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Hernández Beeftink, T., B. Guillen-Guio, H. Rodriguez-Perez, J. M. Lorenzo-Salazar, A. Corrales, E. Espinosa, A. Muriel, et al. "Mitochondrial DNA in Peripheral Blood Is a Prognostic Biomarker in Sepsis-Induced Acute Respiratory Distress Syndrome Patients." In American Thoracic Society 2019 International Conference, May 17-22, 2019 - Dallas, TX. American Thoracic Society, 2019. http://dx.doi.org/10.1164/ajrccm-conference.2019.199.1_meetingabstracts.a2712.

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Boros, László G., Emmanuelle J. Meuillet, Ildikó Somlyai, Gábor Jancsó, György Jákli, Krisztina Krempels, László G. Puskás, et al. "Abstract 1426: Fumarate hydratase and deuterium depletion control oncogenesis via NADPH-dependent reductive synthesis: mitochondrial matrix water, DNA deuteration and epigenetic events." In Proceedings: AACR Annual Meeting 2014; April 5-9, 2014; San Diego, CA. American Association for Cancer Research, 2014. http://dx.doi.org/10.1158/1538-7445.am2014-1426.

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Апарцин, Константин, and Konstantin Apartsin. "The results of fundamental and translational research carried out In the Department of Biomedical Research and Technology of the SBRAS INC in 2012-2016." In Topical issues of translational medicine: a collection of articles dedicated to the 5th anniversary of the day The creation of a department for biomedical research and technology of the Irkutsk Scientific Center Siberian Branch of RAS. Москва: INFRA-M Academic Publishing LLC., 2017. http://dx.doi.org/10.12737/conferencearticle_58be81eca22ad.

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The results of basic and translational research of the Department of Biomedical Research and Technology of Irkutsk Scientific Center of the Siberian Branch of the Russian Academy of Sciences in 2012–2016 The paper presents the results of interdisciplinary research carried out in 2012–2016. The review includes the study of molecular mechanisms of pathogenesis of reparative regeneration, experimental substantiation of methods of diagnosis and prognosis of systemic disturbances of regeneration process, carrying out clinical trials of medicinal products and the formation of observational studies i
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