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Relevant bibliographies by topics / Mitochondrial diseases

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Academic literature on the topic 'Mitochondrial diseases'

Author: Grafiati

Published: 4 June 2021

Last updated: 25 July 2025

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Journal articles on the topic "Mitochondrial diseases"

1

Tang, Xiaoqiang, Xiao-Feng Chen, Hou-Zao Chen, and De-Pei Liu. "Mitochondrial Sirtuins in cardiometabolic diseases." Clinical Science 131, no. 16 (2017): 2063–78. http://dx.doi.org/10.1042/cs20160685.

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Mitochondria are heterogeneous and essentially contribute to cellular functions and tissue homeostasis. Mitochondrial dysfunction compromises overall cell functioning, tissue damage, and diseases. The advances in mitochondrion biology increase our understanding of mitochondrial dynamics, bioenergetics, and redox homeostasis, and subsequently, their functions in tissue homeostasis and diseases, including cardiometabolic diseases (CMDs). The functions of mitochondria mainly rely on the enzymes in their matrix. Sirtuins are a family of NAD+-dependent deacylases and ADP-ribosyltransferases. Three

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Hong, Seongho, Sanghun Kim, Kyoungmi Kim, and Hyunji Lee. "Clinical Approaches for Mitochondrial Diseases." Cells 12, no. 20 (2023): 2494. http://dx.doi.org/10.3390/cells12202494.

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Mitochondria are subcontractors dedicated to energy production within cells. In human mitochondria, almost all mitochondrial proteins originate from the nucleus, except for 13 subunit proteins that make up the crucial system required to perform ‘oxidative phosphorylation (OX PHOS)’, which are expressed by the mitochondria’s self-contained DNA. Mitochondrial DNA (mtDNA) also encodes 2 rRNA and 22 tRNA species. Mitochondrial DNA replicates almost autonomously, independent of the nucleus, and its heredity follows a non-Mendelian pattern, exclusively passing from mother to children. Numerous studi

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Fu, Ailing. "Mitotherapy as a Novel Therapeutic Strategy for Mitochondrial Diseases." Current Molecular Pharmacology 13, no. 1 (2020): 41–49. http://dx.doi.org/10.2174/1874467212666190920144115.

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Background: The mitochondrion is a multi-functional organelle that is mainly responsible for energy supply in the mammalian cells. Over 100 human diseases are attributed to mitochondrial dysfunction. Mitochondrial therapy (mitotherapy) aims to transfer functional exogenous mitochondria into mitochondria-defective cells for recovery of the cell viability and consequently, prevention of the disease progress. Conclusion: Mitotherapy makes the of modulation of cell survival possible, and it would be a potential therapeutic strategy for mitochondrial diseases. Objective: The review summarizes the e

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Macdonald, Ruby, Katy Barnes, Christopher Hastings, and Heather Mortiboys. "Mitochondrial abnormalities in Parkinson's disease and Alzheimer's disease: can mitochondria be targeted therapeutically?" Biochemical Society Transactions 46, no. 4 (2018): 891–909. http://dx.doi.org/10.1042/bst20170501.

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Mitochondrial abnormalities have been identified as a central mechanism in multiple neurodegenerative diseases and, therefore, the mitochondria have been explored as a therapeutic target. This review will focus on the evidence for mitochondrial abnormalities in the two most common neurodegenerative diseases, Parkinson's disease and Alzheimer's disease. In addition, we discuss the main strategies which have been explored in these diseases to target the mitochondria for therapeutic purposes, focusing on mitochondrially targeted antioxidants, peptides, modulators of mitochondrial dynamics and phe

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Wang, Sheng-Fan, Shiuan Chen, Ling-Ming Tseng, and Hsin-Chen Lee. "Role of the mitochondrial stress response in human cancer progression." Experimental Biology and Medicine 245, no. 10 (2020): 861–78. http://dx.doi.org/10.1177/1535370220920558.

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Mitochondria are important organelles that are responsible for cellular energy metabolism, cellular redox/calcium homeostasis, and cell death regulation in mammalian cells. Mitochondrial dysfunction is involved in various diseases, such as neurodegenerative diseases, cardiovascular diseases, immune disorders, and cancer. Defective mitochondria and metabolism remodeling are common characteristics in cancer cells. Several factors, such as mitochondrial DNA copy number changes, mitochondrial DNA mutations, mitochondrial enzyme defects, and mitochondrial dynamic changes, may contribute to mitochon

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Hu, Cuilan, Zheng Shi, Xiongxiong Liu, and Chao Sun. "The Research Progress of Mitochondrial Transplantation in the Treatment of Mitochondrial Defective Diseases." International Journal of Molecular Sciences 25, no. 2 (2024): 1175. http://dx.doi.org/10.3390/ijms25021175.

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Mitochondria are double-membrane organelles that are involved in energy production, apoptosis, and signaling in eukaryotic cells. Several studies conducted over the past decades have correlated mitochondrial dysfunction with various diseases, including cerebral ischemia, myocardial ischemia-reperfusion, and cancer. Mitochondrial transplantation entails importing intact mitochondria from healthy tissues into diseased tissues with damaged mitochondria to rescue the injured cells. In this review, the different mitochondrial transplantation techniques and their clinical applications have been disc

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Habbane, Mouna, Julio Montoya, Taha Rhouda, Yousra Sbaoui, Driss Radallah, and Sonia Emperador. "Human Mitochondrial DNA: Particularities and Diseases." Biomedicines 9, no. 10 (2021): 1364. http://dx.doi.org/10.3390/biomedicines9101364.

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Mitochondria are the cell’s power site, transforming energy into a form that the cell can employ for necessary metabolic reactions. These organelles present their own DNA. Although it codes for a small number of genes, mutations in mtDNA are common. Molecular genetics diagnosis allows the analysis of DNA in several areas such as infectiology, oncology, human genetics and personalized medicine. Knowing that the mitochondrial DNA is subject to several mutations which have a direct impact on the metabolism of the mitochondrion leading to many diseases, it is therefore necessary to detect these mu

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AkL, Ahmed, Iman Afsah, and Ramadan A Saad. "Mitochondrial diseases: past, present, and future." Urology & Nephrology Open Access Journal 10, no. 1 (2022): 9–13. http://dx.doi.org/10.15406/unoaj.2022.10.00316.

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Mitochondria are membrane-bound organelles found in almost all eukaryotic cells. Mitochondria are in charge of mastering and organizing cellular energy production in order to sustain life. Two genomic systems are responsible for mitochondrial biogenesis: nucli-genomes and another set of mitochondrial genes (mtDNA). MtDNA encodes 13 proteins that are required for respiratory chain function. Mitochondria play a role in a variety of cellular processes, including calcium signaling, cell cycle, differentiation, and cell death. Mitochondrial shape indicates good health, and their location in the cel

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Che, Ruochen, Yanggang Yuan, Songming Huang, and Aihua Zhang. "Mitochondrial dysfunction in the pathophysiology of renal diseases." American Journal of Physiology-Renal Physiology 306, no. 4 (2014): F367—F378. http://dx.doi.org/10.1152/ajprenal.00571.2013.

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Mitochondrial dysfunction has gained recognition as a contributing factor in many diseases. The kidney is a kind of organ with high energy demand, rich in mitochondria. As such, mitochondrial dysfunction in the kidney plays a critical role in the pathogenesis of kidney diseases. Despite the recognized importance mitochondria play in the pathogenesis of the diseases, there is limited understanding of various aspects of mitochondrial biology. This review examines the physiology and pathophysiology of mitochondria. It begins by discussing mitochondrial structure, mitochondrial DNA, mitochondrial

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Cilleros-Holgado, Paula, David Gómez-Fernández, Rocío Piñero-Pérez, et al. "Mitochondrial Quality Control via Mitochondrial Unfolded Protein Response (mtUPR) in Ageing and Neurodegenerative Diseases." Biomolecules 13, no. 12 (2023): 1789. http://dx.doi.org/10.3390/biom13121789.

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Mitochondria play a key role in cellular functions, including energy production and oxidative stress regulation. For this reason, maintaining mitochondrial homeostasis and proteostasis (homeostasis of the proteome) is essential for cellular health. Therefore, there are different mitochondrial quality control mechanisms, such as mitochondrial biogenesis, mitochondrial dynamics, mitochondrial-derived vesicles (MDVs), mitophagy, or mitochondrial unfolded protein response (mtUPR). The last item is a stress response that occurs when stress is present within mitochondria and, especially, when the ac

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Dissertations / Theses on the topic "Mitochondrial diseases"

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Gu, Mei. "Mitochondrial function in Parkinson's disease and other neurodegenerative diseases." Thesis, University College London (University of London), 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.322371.

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Wredenberg, Anna. "Mitochondrial dysfunction in ageing and degenerative disease /." Stockholm : Karolinska institutet, 2007. http://diss.kib.ki.se/2007/978-91-7357-311-5/.

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Addo, Mathew Glover. "Identification of new nuclear genes involved in the mitochondrial genome maintenance." Thesis, Paris 11, 2011. http://www.theses.fr/2011PA112065.

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Sous le terme de maladies mitochondriales, on désigne des maladies multi-systémiques ou à expression tissu-spécifique dues à un déficit de la phosphorylation oxydative qui est assurée par le fonctionnement de 5 complexes protéiques enzymatiques (chaîne respiratoire) parmi lesquelles 13 sous-unités sont codées par le génome mitochondrial, les autres par le génome nucléaire. Ces pathologies recouvrent donc en pratique des maladies génétiques par mutation de l’ADN mitochondrial (ADNmt) mais aussi des maladies génétiques à hérédité mendélienne classique. Dans les cytopathies mitochondriales liées

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CIVILETTO, GABRIELE. "Opa1 overexpression as potential therapy in mitochondrial diseases." Doctoral thesis, Università degli Studi di Milano-Bicocca, 2014. http://hdl.handle.net/10281/55460.

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Mitochondrial disorders are a group of highly invalidating human conditions due to defective oxidative phosphorylation, for which no effective treatment is nowadays available. In order to develop effective therapies for these disorders, I focused on an experimental approach based on the manipulation of mitochondrial morphology. Opa1 is a GTPase of the inner mitochondrial membrane involved in both mitochondrial fusion and cristae shaping. The role of OPA1 in mitodynamics has also a documented impact on controlling the assembly of the respiratory supercomplexes and respiratory proficiency. Base

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Ekstrand, Mats. "Mitochondrial dysfunction in neurodegeneration /." Stockholm, 2005. http://diss.kib.ki.se/2005/91-7140-204-7/.

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Aryamvally, Anjali. "Mitochondrial Replacement Therapy: Genetic Counselors’ Experiences, Knowledge and Opinions." University of Cincinnati / OhioLINK, 2020. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1583998248123854.

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Granatiero, Veronica. "The role of calcium homeostasis in mitochondrial diseases and neurodegeneration." Doctoral thesis, Università degli studi di Padova, 2014. http://hdl.handle.net/11577/3423748.

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Ca2+ is one of the main second messengers of cells and, in particular the Ca2+ signaling in mitochondria is involved in different physiological processes spanning from cell metabolism, through the control of mitochondrial respiration and crucial metabolic enzymes, to the response in stress conditions. Despite the lack of a mechanistic understanding, it is well known that mitochondrial Ca2+ overload is the most important trigger for the opening of permeability transition pore responsible for apoptosis induction after several toxic challenges. On the contrary, the role of Ca2+ signaling in aut

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Aachi, Venkat Raghav. "Preliminary Characterization of Mitochondrial ATP-sensitive Potassium Channel (MitoKATP) Activity in Mouse Heart Mitochondria." PDXScholar, 2009. https://pdxscholar.library.pdx.edu/open_access_etds/1667.

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Myocardial ischemia, infarction, heart failure and arrhythmias are the manifestations of coronary artery disease. Reduction of ischemic damage is a major concern of cardiovascular biology research. As per recent studies, the mitochondrial ATP-sensitive potassium channel (mitoKATP) opening is believed to play key role in the physiology of cardioprotection, protection against ischemia-reperfusion injury or apoptosis. However, the structural information of mitoKATP is not precisely known. Elucidating the structural integrity and functioning of the mitoKATP is therefore a major goal of cardiovascu

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Liang, Christina Luh-Unn. "The Australian Mitochondrial Disease Study – Recognising and improving the diagnosis and management outcomes of adult patients with mitochondrial diseases." Thesis, The University of Sydney, 2016. http://hdl.handle.net/2123/16723.

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Background: Mitochondrial diseases are one of the most common hereditary neuromuscular conditions. Late-onset presentations are common. Genotype-phenotype correlations are poor, making the diagnosis difficult and prognostication imprecise. Objectives: We aim to refine the diagnostic pathway for adult patients suspected to have a mitochondrial disease, to better understand their clinical presentations, and to review their management strategies. Methods: At the Neurogenetics Clinic, we saw over 270 patients with suspected mitochondrial disease, of whom 148 patients had “probable” or “definite” d

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Franco, Iborra Sandra. "Mitochondrial quality control in neurodegenerative diseases: focus on Parkinson’s disease and Huntington’s disease." Doctoral thesis, Universitat Autònoma de Barcelona, 2018. http://hdl.handle.net/10803/565668.

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Darrerament s’han produït avanços importants que han contribuït al coneixement dels mecanismes de disfunció cel·lular i mort en la malaltia de Parkinson (MP) i en la malaltia de Huntington (MH). Ambdues malalties són trastorns del moviment que es caracteritzen per la pèrdua específica de neurones dels ganglis basals, les neurones dopaminèrgiques de la substància nigra (SN), en el cas de la MP i les neurones espinoses de l’estriat, en el cas de la MH. Malgrat les diferències, ambdues comparteixen processos patològics comuns com la presència de proteïnes malplegades, l’estrés oxidatiu i disfunci

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Books on the topic "Mitochondrial diseases"

1

James, Holt Ian, ed. Genetics of mitochondrial diseases. Oxford University Press, 2003.

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Navas, Placido, and Leonardo Salviati, eds. Mitochondrial Diseases. Springer International Publishing, 2021. http://dx.doi.org/10.1007/978-3-030-70147-5.

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Lestienne, Patrick, ed. Mitochondrial Diseases. Springer Berlin Heidelberg, 1999. http://dx.doi.org/10.1007/978-3-642-59884-5.

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N, Gellerich Frank, Zierz S, and Colloquium on Mitochondria and Myopathies (1st : 1995 : Halle an der Saale, Germany), eds. Detection of mitochondrial diseases. Kluwer Academic, 1997.

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service), ScienceDirect (Online, ed. Mitochondrial function: Mitochondrial protein kinases, protein phosphatases and mitochondrial diseases. Academic Press/Elsevier, 2009.

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Sun, Hongzhi, and Xiangdong Wang, eds. Mitochondrial DNA and Diseases. Springer Singapore, 2017. http://dx.doi.org/10.1007/978-981-10-6674-0.

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Gellerich, Frank Norbert, and Stephan Zierz, eds. Detection of Mitochondrial Diseases. Springer US, 1997. http://dx.doi.org/10.1007/978-1-4615-6111-8.

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Anna, Gvozdjáková, ed. Mitochondrial medicine: Mitochondrial metabolism, diseases, diagnosis and therapy. Springer, 2008.

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S, DiMauro, Hirano Michio, and Schon Eric A, eds. Mitochondrial medicine. Informa Healthcare, 2006.

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M, Smeitink Jan A., Sengers Rob C. A, and Trijbels J. M. Frans, eds. Oxidative phosphorylation in health and disease. Landes Bioscience/Eurekah.com, 2004.

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Book chapters on the topic "Mitochondrial diseases"

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Lestienne, P. "Introduction." In Mitochondrial Diseases. Springer Berlin Heidelberg, 1999. http://dx.doi.org/10.1007/978-3-642-59884-5_1.

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Buchet, K., and C. Godinot. "ATPase-ATP Synthase and Mitochondrial Pathology." In Mitochondrial Diseases. Springer Berlin Heidelberg, 1999. http://dx.doi.org/10.1007/978-3-642-59884-5_10.

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Fiore, C., V. Trezeguet, C. Schwimmer, et al. "Physiology and Pathophysiology of the Mitochondrial ADP/ATP Carrier." In Mitochondrial Diseases. Springer Berlin Heidelberg, 1999. http://dx.doi.org/10.1007/978-3-642-59884-5_11.

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Clottes, E., O. Marcillat, M. J. Vacheron, C. Leydier, and C. Vial. "The Normal and Pathological Structure, Function and Expression of Mitochondrial Creatine Kinase." In Mitochondrial Diseases. Springer Berlin Heidelberg, 1999. http://dx.doi.org/10.1007/978-3-642-59884-5_12.

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Marsac, C., D. François, F. Fouque, and C. Benelli. "Pyruvate Dehydrogenase Deficiencies." In Mitochondrial Diseases. Springer Berlin Heidelberg, 1999. http://dx.doi.org/10.1007/978-3-642-59884-5_13.

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Coppey, J., C. Durieux, and M. Coppey-Moisan. "Electrochemical Gradient and Mitochondrial DNA in Living Cells." In Mitochondrial Diseases. Springer Berlin Heidelberg, 1999. http://dx.doi.org/10.1007/978-3-642-59884-5_14.

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Alziari, S., N. Petit, E. Lefai, et al. "A Heteroplasmic Strain of D. Subobscura. An Animal Model of Mitochondrial Genome Rearrangement." In Mitochondrial Diseases. Springer Berlin Heidelberg, 1999. http://dx.doi.org/10.1007/978-3-642-59884-5_15.

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Belcour, L., A. Sainsard-Chanet, C. Jamet-Vierny, and M. Picard. "Stability of the Mitochondrial Genome of Podospora anserina and Its Genetic Control." In Mitochondrial Diseases. Springer Berlin Heidelberg, 1999. http://dx.doi.org/10.1007/978-3-642-59884-5_16.

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Lestienne, P., and J. Veziers. "The Control of Ageing and Mitochondria." In Mitochondrial Diseases. Springer Berlin Heidelberg, 1999. http://dx.doi.org/10.1007/978-3-642-59884-5_17.

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Mignotte, B., and G. Kroemer. "Roles of Mitochondria in Apoptosis." In Mitochondrial Diseases. Springer Berlin Heidelberg, 1999. http://dx.doi.org/10.1007/978-3-642-59884-5_18.

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Conference papers on the topic "Mitochondrial diseases"

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Ojo, Oluwafemi Adeleke, Chinonyelum Ilomuanya, Matthew Iyobhebhe, et al. "Role of oxidative stress and mitochondria dysfunction in Diabetes mellitus disease." In 2024 International Conference on Science, Engineering and Business for Driving Sustainable Development Goals (SEB4SDG). IEEE, 2024. http://dx.doi.org/10.1109/seb4sdg60871.2024.10630230.

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Novaković, Ivana, Milena Janković, Ana Marjanović, Marija Branković, Marina Svetel, and Jasna Jančić. "Challenges in rare diseases: The example of mitochondrial diseases." In Proceedings of the International Congress Public Health - Achievements and Challenges. Institute of Public Health of Serbia "Dr Milan Jovanović Batut", 2024. http://dx.doi.org/10.5937/batutphco24114n.

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Background: Mitochondrial diseases are a group of disorders caused by dysfunction of mitochondria - the organelles that generate energy for the cell by converting the energy of food molecules into the ATP that powers most cell functions. Mitochondrial diseases are one of the most common groups of rare diseases with a minimum prevalence of greater than 1 in 5000 in adults. Clinical manifestations of mitochondrial diseases are heterogonous, mostly affecting nervous and muscle systems and sensory organs; symptoms can appear at birth or they may not appear until adulthood These diseases have genet

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Li, Ching-Wen, Pao-Hsin Yen, and Gou-Jen Wang. "A Cascade Microfluidic Device for High Quality Mitochondria Extraction." In ASME 2015 International Design Engineering Technical Conferences and Computers and Information in Engineering Conference. American Society of Mechanical Engineers, 2015. http://dx.doi.org/10.1115/detc2015-46117.

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Recent researches have demonstrated that cells ingest mitochondrial by endocytosis to repair cell damage. This new mitochondrial therapy approach can be used for curing particular disease of neuropathy related diseases. Hence the obtainment of high quality and healthy mitochondria play an important role in mitochondrial based disease therapy. In this study, we propose a cascade microfluidic device for green extraction of healthy mitochondria. The geometry of the device was designed using the commercially available COMSOL package. Soft lithography process was than conducted to realize the devic

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Farha, S. Y., P. M. Hassoun, A. Reichard, et al. "Mitochondrial Dysfunction Across Pulmonary Vascular Diseases." In American Thoracic Society 2023 International Conference, May 19-24, 2023 - Washington, DC. American Thoracic Society, 2023. http://dx.doi.org/10.1164/ajrccm-conference.2023.207.1_meetingabstracts.a2515.

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Horvath, R. "Molecular mechanisms of reversible infantile mitochondrial diseases." In 24. Kongress des Medizinisch-Wissenschaftlichen Beirates der Deutschen Gesellschaft für Muskelkranke (DGM) e.V. Georg Thieme Verlag KG, 2019. http://dx.doi.org/10.1055/s-0039-1685013.

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Nesbitt, Victoria, and Judy Wadsworth. "1376 Supplementary feeding in children with mitochondrial diseases." In Royal College of Paediatrics and Child Health, Abstracts of the RCPCH Conference–Online, 15 June 2021–17 June 2021. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2021. http://dx.doi.org/10.1136/archdischild-2021-rcpch.599.

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Horvath, Rita. "Mitochondrial Diseases: Diagnosis and Novel Approach for Treatment." In Congenital Dystrophies - Neuromuscular Disorders Precision Medicine: Genomics to Care and Cure. Hamad bin Khalifa University Press (HBKU Press), 2020. http://dx.doi.org/10.5339/qproc.2020.nmd.18.

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Alvarez-Mulett, S., L. G. Gomez-Escobar, E. Sanchez, et al. "Mitochondrial DNA as Biomarker to Differentiate Interstitial Lung Diseases." In American Thoracic Society 2020 International Conference, May 15-20, 2020 - Philadelphia, PA. American Thoracic Society, 2020. http://dx.doi.org/10.1164/ajrccm-conference.2020.201.1_meetingabstracts.a7885.

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Evseeva, G., E. Knizhnikova, R. Telepneva, et al. "Mitochondrial Dysfunction in Chronic Diseases of the Respiratory Organs." In American Thoracic Society 2021 International Conference, May 14-19, 2021 - San Diego, CA. American Thoracic Society, 2021. http://dx.doi.org/10.1164/ajrccm-conference.2021.203.1_meetingabstracts.a3453.

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Bank, William J., and Britton Chance. "Diagnosis of mitochondrial diseases by near-infrared spectroscopy (NIRS)." In Photonics West '95, edited by Britton Chance and Robert R. Alfano. SPIE, 1995. http://dx.doi.org/10.1117/12.210026.

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Reports on the topic "Mitochondrial diseases"

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Dr. Amutha Boominathan, Dr Amutha Boominathan. Finding a Cure for Mitochondrial DNA Diseases through COX2 Variations to Restore Cell Function. Experiment, 2023. http://dx.doi.org/10.18258/50364.

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Wilson, Kyrie, Walter Kyle Myers, and Bärbel Rohrer. Current landscape of therapeutic interventions to restore mitochondrial function and integrity in primary mitochondrial diseases and in acute and chronic conditions with mitochondrial dysfunction in preclinical models: Protocol for a systematic review. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, 2025. https://doi.org/10.37766/inplasy2025.7.0040.

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Ryan Mailloux, Ryan Mailloux. S-glutathionylation reactions in mitochondrial function and disease. Experiment, 2014. http://dx.doi.org/10.18258/3738.

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Gluck, Martin R. Parkinson's Disease: The Link Between Monoamine Oxidase and Mitochondrial Respiration. Defense Technical Information Center, 2004. http://dx.doi.org/10.21236/ada612171.

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Surmeier, D. J. Glutamate Signaling and Mitochondrial Dysfunction in Models of Parkinson's Disease. Defense Technical Information Center, 2014. http://dx.doi.org/10.21236/ada604089.

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Hoang, Sony. -Synuclein and Mitochondrial Dysfunction Induced ER Stress Leading to Parkinson’s Disease. Iowa State University, 2020. http://dx.doi.org/10.31274/cc-20240624-857.

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Patten, Brandon. Evaluation of the effects of exercise protocols on mitochondrial dysfunction in Alzheimer's disease. Iowa State University, 2019. http://dx.doi.org/10.31274/cc-20240624-671.

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Lee, Seung-Jae. Role of Oligomeric alpha-Synuclein in Mitochondrial Membrane Permeabilization and Neurodegeneration in Parkinson's Disease. Defense Technical Information Center, 2004. http://dx.doi.org/10.21236/ada427150.

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