Academic literature on the topic 'Mitochondrial defects'
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Journal articles on the topic "Mitochondrial defects"
Gorsich, Steven W., and Janet M. Shaw. "Importance of Mitochondrial Dynamics During Meiosis and Sporulation." Molecular Biology of the Cell 15, no. 10 (October 2004): 4369–81. http://dx.doi.org/10.1091/mbc.e03-12-0875.
Full textWeidling, Ian, and Russell H. Swerdlow. "Mitochondrial Dysfunction and Stress Responses in Alzheimer’s Disease." Biology 8, no. 2 (May 11, 2019): 39. http://dx.doi.org/10.3390/biology8020039.
Full textCiceri, E., I. Moroni, G. Uziel, and M. Savoiardo. "Le encefalomiopatie mitocondriali." Rivista di Neuroradiologia 9, no. 6 (December 1996): 775–80. http://dx.doi.org/10.1177/197140099600900623.
Full textChen, Tsung-Hsien, Kok-Yean Koh, Kurt Ming-Chao Lin, and Chu-Kuang Chou. "Mitochondrial Dysfunction as an Underlying Cause of Skeletal Muscle Disorders." International Journal of Molecular Sciences 23, no. 21 (October 26, 2022): 12926. http://dx.doi.org/10.3390/ijms232112926.
Full textSalgado, Josefa, Beatriz Honorato, and Jesús García-Foncillas. "Review: Mitochondrial Defects in Breast Cancer." Clinical medicine. Oncology 2 (January 2008): CMO.S524. http://dx.doi.org/10.4137/cmo.s524.
Full textPAL, ARUNA, and SAMIDDHA BANERJEE. "Mitochondrial replacement therapy - a new remedy for defects in reproduction." Indian Journal of Animal Sciences 88, no. 6 (June 22, 2018): 637–44. http://dx.doi.org/10.56093/ijans.v88i6.80860.
Full textLenzi, Paola, Rosangela Ferese, Francesca Biagioni, Federica Fulceri, Carla L. Busceti, Alessandra Falleni, Stefano Gambardella, Alessandro Frati, and Francesco Fornai. "Rapamycin Ameliorates Defects in Mitochondrial Fission and Mitophagy in Glioblastoma Cells." International Journal of Molecular Sciences 22, no. 10 (May 20, 2021): 5379. http://dx.doi.org/10.3390/ijms22105379.
Full textBakare, Ajibola B., Julienne Daniel, Joshua Stabach, Anapaula Rojas, Austin Bell, Brooke Henry, and Shilpa Iyer. "Quantifying Mitochondrial Dynamics in Patient Fibroblasts with Multiple Developmental Defects and Mitochondrial Disorders." International Journal of Molecular Sciences 22, no. 12 (June 10, 2021): 6263. http://dx.doi.org/10.3390/ijms22126263.
Full textMurata, Daisuke, Kenta Arai, Miho Iijima, and Hiromi Sesaki. "Mitochondrial division, fusion and degradation." Journal of Biochemistry 167, no. 3 (December 4, 2019): 233–41. http://dx.doi.org/10.1093/jb/mvz106.
Full textSonn, Seong Keun, Seungwoon Seo, Jaemoon Yang, Ki Sook Oh, Hsiuchen Chen, David C. Chan, Kunsoo Rhee, Kyung S. Lee, Young Yang, and Goo Taeg Oh. "ER-associated CTRP1 regulates mitochondrial fission via interaction with DRP1." Experimental & Molecular Medicine 53, no. 11 (November 2021): 1769–80. http://dx.doi.org/10.1038/s12276-021-00701-z.
Full textDissertations / Theses on the topic "Mitochondrial defects"
Bindoff, L. A. "Defects of mitochondrial oxidations." Thesis, University of Newcastle Upon Tyne, 1990. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.241373.
Full textKollberg, Gittan. "Crisis in energy metabolism : mitochondrial defects and a new disease entity /." Göteborg : Department of Pathology, Institute of Biomedicine, The Sahlgrenska Academy at Göteborg University, 2007. http://hdl.handle.net/2077/779.
Full textBrierley, Elizabeth Jane. "Defects of mitochondrial DNA and mitochondrial energy production in ageing." Thesis, University of Newcastle Upon Tyne, 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.323477.
Full textPerry, Justin Bradley. "Novel approaches to treat mitochondrial complex-I mediated defects in disease." Diss., Virginia Tech, 2019. http://hdl.handle.net/10919/100602.
Full textDoctor of Philosophy
Fontes, Adriana Filipa da Silva. "Mitochondrial defects in proteasome and COP9 mutants." Master's thesis, Universidade de Aveiro, 2014. http://hdl.handle.net/10773/13273.
Full textThe aim of this work is the study of phenotypic changes and mitochondrial morphology in Saccharomyces cerevisiae cells with specific mutations in genes involved in the ubiquitin-proteasome pathway. The protein turnover is important because it ensures organelles viability such as mitochondria, indispensable for cell survival. The COP9 complex is paralogous to the proteasome lid and eukaryotic translational initiator factor 3 (eIF3) complexes. The CSN5 subunit of the COP9 signalosome is responsible for the E3 ligase Cdc53/Cul1 activity through the removal of the ubiquitin-like protein, Rub1. Deletion of the Csn5 gene is lethal in high eukaryotes but not in yeast, this observation allow us to study the effects of this mutation in this organism (strain Δcsn5) together with other mutants or double mutants: rpn11-m1, Δrub1, rpn11-m1/Δcsn5 rpn11-m1/ Δrub1. Mutants and wildtype (W303-1A) were characterised regarding growth in different carbon sources and temperature as well as response to stress or DNA damage causing agents (methyl methanesulfonate and canavanin). The morphological results allowed us to investigate authophagy, and in particular mitophagy, through fluorescence microscopy (GFP-Atg8 and GFP-Atg32) and Western Blot analysis. We found a relation between deubiquitination undertaken by Rpn11 protein, from the 19S proteasome subunit, and the activation of rubylation/derubylation cycles by the CSN5 subunit of the CSN complex (COP9 signalosome). In fact, the rpn11-m1/ Δrub1 shows a semi-lethal phenotype and mitophagy in exponential phase in glucose rich medium. Also the Δcsn5 strain shows early mitophagy together with phenotypic changes, such as big vacuoles. In addition, it has been established a possible relationship between the CSN complex and the resilience to damage in the DNA caused by the methylating agent, methyl methanesulfonate (MMS).
O objectivo deste trabalho centrou-se no estudo das alterações fenotípicas e ao nível da morfologia mitocondrial em células de levedura Saccharomyces cerevisiae com mutações específicas em genes envolvidos na via de degradação proteica ubiquitinaproteasoma. O turnover proteíco é muito importante pois garante a viabilidade dos vários organelos celulares, de entre os quais, a mitochondria, cuja função principal é a produção de energia na forma de ATP. A subunidade Csn5 do COP9 signalosome, complexo com elevada similaridade com a lid proteasomal e com o factor 3 de iniciação translacional em eucariotas (eIF3), é responsável pela actividade da E3 ligase Cdc53/Cul1 através da remoção da proteina similar à ubiquitina, Rub1. A delação do gene que codifica para a subunidade Csn5 é letal em eucariotas superiores mas não em levedura o que nos permite estudar os seus efeitos juntamente com outros mutantes: rpn11-m1, Δrub1, rpn11-m1/Δcsn5 rpn11-m1/ Δrub1. Mutantes e wild-type (W303-1A) foram caracterizados a nível de crescimento em diferentes fontes de carbono e a diferentes temperaturas, assim como à resposta a factores causadores de dano ao nível do DNA e síntese proteica (sulfonato de metil metano e canavanina) juntamente com uma análise do potencial de membrana mitochondrial, autofagia/mitofagia através de microscopia de fluorescencia (GFP-Atg8 e GFP-Atg32) e Western Blot. Os resultados obtidos indicam que existe uma relação entre a acção de deubiquitinação da proteina Rpn11, da subunidade 19S do proteasome, e a activação dos ciclos de rubilação/ derubilação pela subunidade Csn5 do complex CSN (COP9 signalosome), sendo que o mutante rpn11-m1/Δrub1 apresenta um fenótipo semi-letal com instabilidade ao nível do DNA e alterações mitocôndriais que levam a um mitofagia em fase exponencial em meio rico em glucose. Por sua vez, o mutante rpn11-m1/Δcsn5 também revela mitofagia prematura em conjunto com alterações fenotípicas, como o aumento da dimensão celular (grande vacúolo), que ja é também evidente no mutante Δcsn5. Foi ainda estabelecida uma possível relação entre o complex CSN e a capacidade de resistência aos danos causados no DNA pelo agente metilante MMS.
Yarham, John William. "Identification and characterisation of novel mitochondrial and nuclear mutations associated with mitochondrial translation defects." Thesis, University of Newcastle Upon Tyne, 2012. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.613448.
Full textAlmazan, Annabel Vivian P. "Overexpression of the human optic atrophy-associated OPA1 gene induces mitochondrial and cellular fitness defects in yeast." Wright State University / OhioLINK, 2020. http://rave.ohiolink.edu/etdc/view?acc_num=wright1590861295140841.
Full textTaylor, Claire Louise. "Biochemical investigations of defects of the mitochondrial respiratory chain." Thesis, University of Newcastle Upon Tyne, 1995. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.281706.
Full textLuca, Corneliu Constantin. "MTERFD3 is a Mitochondrial Protein that Modulates Oxidative Phosphorylation." Scholarly Repository, 2008. http://scholarlyrepository.miami.edu/oa_dissertations/132.
Full textLowerson, Shelagh Anne. "Defects of the mitochondrial respiratory chain : biochemical studies and mathematical modelling." Thesis, University of Newcastle Upon Tyne, 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.297572.
Full textBooks on the topic "Mitochondrial defects"
International Symposium on Glycolytic and Mitochondrial Defects in Muscle and Nerve (1995 Osaka, Japan). International Symposium on Glycolytic and Mitochondrial Defects in Muscle and Nerve, Osaka, Japan, July 7-8, 1994 ; Osaka Sun Palace (Expo Park Senti, Suita, Osaka. Edited by Tarui Seiichirō. New York: Wiley, 1995.
Find full textFelberg, Mary A. Mitochondrial Disease and Anesthesia. Edited by Erin S. Williams, Olutoyin A. Olutoye, Catherine P. Seipel, and Titilopemi A. O. Aina. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190678333.003.0042.
Full textMitochondrial Disorders: From Pathophysiology to Acquired Defects. Springer Paris, 2014.
Find full textDesnuelle, Claude, and S. Di Mauro. Mitochondrial Disorders: From Pathophysiology to Acquired Defects. Springer London, Limited, 2013.
Find full textJou, J. Fay, Lori A. Aronson, and Jacqueline W. Morillo-Delerme. Mitochondrial Disorder for Muscle Biopsy. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199764495.003.0049.
Full textDuran, Marinus, and Isabel Tavares de Almeida. Interpretation of Acylcarnitine Analysis Results. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0085.
Full textElliott, Perry, and Giuseppe Limongelli. Cardiac Aspects of INHERITED METABOLIC DISEASES. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0070.
Full textMichels, Virginia V. Genetics. Oxford University Press, 2012. http://dx.doi.org/10.1093/med/9780199755691.003.0276.
Full textGarcia-Pavia, Pablo, and Fernando Dominguez. Left ventricular non-compaction: genetics and embryology. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198784906.003.0362.
Full textDionisi-Vici, Carlo, Diego Martinelli, Enrico Bertini, and Claude Bachmann. HHH Syndrome. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0020.
Full textBook chapters on the topic "Mitochondrial defects"
Salviati, Leonardo. "Cytochrome c Defects in Human Disease." In Mitochondrial Diseases, 191–200. Cham: Springer International Publishing, 2021. http://dx.doi.org/10.1007/978-3-030-70147-5_7.
Full textFernández-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.
Full textOldfors, A. "Mitochondrial Defects in Myositis and Inclusion Body Myopathies." In Mitochondrial Disorders, 265–74. Paris: Springer Paris, 2002. http://dx.doi.org/10.1007/978-2-8178-0929-8_22.
Full textvan der Knaap, Marjo S., and Jacob Valk. "Defects of Mitochondrial DNA." In Magnetic Resonance of Myelin, Myelination, and Myelin Disorders, 146–57. Berlin, Heidelberg: Springer Berlin Heidelberg, 1995. http://dx.doi.org/10.1007/978-3-662-03078-3_21.
Full textDesnuelle, C., C. Richelme, and V. Paquis-Flucklinger. "Neurological Features of Genetic and Acquired Metabolic Mitochondrial Defects." In Mitochondrial Disorders, 193–210. Paris: Springer Paris, 2002. http://dx.doi.org/10.1007/978-2-8178-0929-8_16.
Full textLenaz, Giorgio, Carla Bovina, Cinzia Castelluccio, Romana Fato, Gabriella Formiggini, Maria Luisa Genova, Mario Marchetti, et al. "Mitochondrial Complex I defects in aging." In Detection of Mitochondrial Diseases, 329–33. Boston, MA: Springer US, 1997. http://dx.doi.org/10.1007/978-1-4615-6111-8_50.
Full textYu-Wai-Man, Patrick, Guy Lenaers, and Patrick F. Chinnery. "Defects in Mitochondrial Dynamics and Mitochondrial DNA Instability." In Mitochondrial Disorders Caused by Nuclear Genes, 141–61. New York, NY: Springer New York, 2012. http://dx.doi.org/10.1007/978-1-4614-3722-2_9.
Full textRobinson, Brian H. "Nuclear Defects Affecting Mitochondrial Function." In Mitochondrial DNA Mutations in Aging, Disease and Cancer, 185–204. Berlin, Heidelberg: Springer Berlin Heidelberg, 1998. http://dx.doi.org/10.1007/978-3-662-12509-0_10.
Full textKunz, Wolfram S., Kirstin Winkler, Andrey V. Kuznetsov, Hartmut Lins, Elmar Kirches, and Claus W. Wallesch. "Detection of mitochondrial defects by laser fluorimetry." In Detection of Mitochondrial Diseases, 97–100. Boston, MA: Springer US, 1997. http://dx.doi.org/10.1007/978-1-4615-6111-8_15.
Full textScaglia, Fernando. "Nuclear Gene Defects in Mitochondrial Disorders." In Methods in Molecular Biology, 17–34. Totowa, NJ: Humana Press, 2011. http://dx.doi.org/10.1007/978-1-61779-504-6_2.
Full textConference papers on the topic "Mitochondrial defects"
Bölsterli, Bigna K., Eugen Boltshauser, Felix Distelmaier, Tobias Geis, Annick Klabunde-Cherwon, Raimund Kottke, Christine Makowski, et al. "Mitochondrial Transporter Defects: Successful Treatment with Ketogenic Diet Therapy." In Abstracts of the 46th Annual Meeting of the Society for Neuropediatrics. Georg Thieme Verlag KG, 2021. http://dx.doi.org/10.1055/s-0041-1739697.
Full textGarcia-Carrizo, F., A. Jank, M. Ost, and T. Schulz. "Extracellular matrix dysfunction promotes mitochondrial defects and ectopic adipocyte infiltration in skeletal muscle." In Abstracts des Adipositas-Kongresses 2020 zur 36. Jahrestagung der Deutschen Adipositas Gesellschaft e.V. (DAG). © Georg Thieme Verlag KG, 2020. http://dx.doi.org/10.1055/s-0040-1714460.
Full textKrželj, Vjekoslav, and Ivana Čulo Čagalj. "INHERITED METABOLIC DISORDERS AND HEART DISEASES." In Symposium with International Participation HEART AND … Akademija nauka i umjetnosti Bosne i Hercegovine, 2019. http://dx.doi.org/10.5644/pi2019.181.02.
Full textReimann, G., R. Gerlini, N. Spielmann, E. Heyne, M. Szibor, V. Gailus-Durner, T. Komlodi, et al. "Defect in Complex III of the Mitochondrial Electron Transfer System Affects Cardiac Insulin Sensitivity but Not Contractile Function." In 50th Annual Meeting of the German Society for Thoracic and Cardiovascular Surgery (DGTHG). Georg Thieme Verlag KG, 2021. http://dx.doi.org/10.1055/s-0041-1725679.
Full textAshrafzadeh, Sepideh, Lauren D. Van Wassenhove, and Sofia D. Merajver. "Abstract 1695: Quantification of mitochondria in MCF-10A, MDA-MB-231, and SUM149 cells to understand potential defects in oxidative phosphorylation in cancer." In Proceedings: AACR 104th Annual Meeting 2013; Apr 6-10, 2013; Washington, DC. American Association for Cancer Research, 2013. http://dx.doi.org/10.1158/1538-7445.am2013-1695.
Full textReports on the topic "Mitochondrial defects"
Shoffner, John M. Mechanisms of Mitochondrial Defects in Gulf War Syndrome. Fort Belvoir, VA: Defense Technical Information Center, October 2013. http://dx.doi.org/10.21236/ada612595.
Full textShoffner, John M. Mechanisms of Mitochondrial Defects in Gulf War Syndrome. Fort Belvoir, VA: Defense Technical Information Center, August 2010. http://dx.doi.org/10.21236/ada536634.
Full textShoffner, John M. Mechanisms of Mitochondrial Defects in Gulf War Syndrome. Fort Belvoir, VA: Defense Technical Information Center, August 2012. http://dx.doi.org/10.21236/ada567223.
Full textShoffner, John. Mechanisms of Mitochondrial Defects in Gulf War Syndrome. Fort Belvoir, VA: Defense Technical Information Center, August 2011. http://dx.doi.org/10.21236/ada554016.
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