Search Results - "Metodiev D."

LRPPRC is necessary for polyadenylation and coordination of translation of mitochondrial mRNAs by Ruzzenente, Benedetta, Metodiev, Metodi D, Wredenberg, Anna, Bratic, Ana, Park, Chan Bae, Cámara, Yolanda, Milenkovic, Dusanka, Zickermann, Volker, Wibom, Rolf, Hultenby, Kjell, Erdjument-Bromage, Hediye, Tempst, Paul, Brandt, Ulrich, Stewart, James B, Gustafsson, Claes M, Larsson, Nils-Göran

“…Regulation of mtDNA expression is critical for maintaining cellular energy homeostasis and may, in principle, occur at many different levels. The leucine‐rich…”
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Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies by Metodiev, Metodi D., Thompson, Kyle, Alston, Charlotte L., Morris, Andrew A.M., He, Langping, Assouline, Zarah, Rio, Marlène, Bahi-Buisson, Nadia, Pyle, Angela, Griffin, Helen, Siira, Stefan, Filipovska, Aleksandra, Munnich, Arnold, Chinnery, Patrick F., McFarland, Robert, Rötig, Agnès, Taylor, Robert W.

“…Mitochondrial disorders are clinically and genetically diverse, with mutations in mitochondrial or nuclear genes able to cause defects in mitochondrial gene…”
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MTERF4 Regulates Translation by Targeting the Methyltransferase NSUN4 to the Mammalian Mitochondrial Ribosome by Cámara, Yolanda, Asin-Cayuela, Jorge, Park, Chan Bae, Metodiev, Metodi D., Shi, Yonghong, Ruzzenente, Benedetta, Kukat, Christian, Habermann, Bianca, Wibom, Rolf, Hultenby, Kjell, Franz, Thomas, Erdjument-Bromage, Hediye, Tempst, Paul, Hallberg, B. Martin, Gustafsson, Claes M., Larsson, Nils-Göran

“…Precise control of mitochondrial DNA gene expression is critical for regulation of oxidative phosphorylation capacity in mammals. The MTERF protein family…”
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Modality Agnostic Model for Spatial Resolution in Mass Spectrometry Imaging: Application to MALDI MSI Data by Metodiev, Martin D, Steven, Rory T, Loizeau, Xavier, Takats, Zoltan, Bunch, Josephine

“…Image resolution in mass spectrometry imaging (MSI) is governed by the sampling probe, the motion of the stage relative to the probe, and the noise inherent…”
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Methylation of 12S rRNA Is Necessary for In Vivo Stability of the Small Subunit of the Mammalian Mitochondrial Ribosome by Metodiev, Metodi D., Lesko, Nicole, Park, Chan Bae, Cámara, Yolanda, Shi, Yonghong, Wibom, Rolf, Hultenby, Kjell, Gustafsson, Claes M., Larsson, Nils-Göran

“…The 3′ end of the rRNA of the small ribosomal subunit contains two extremely highly conserved dimethylated adenines. This modification and the responsible…”
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Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy by Kopajtich, Robert, Nicholls, Thomas J., Rorbach, Joanna, Metodiev, Metodi D., Freisinger, Peter, Mandel, Hanna, Vanlander, Arnaud, Ghezzi, Daniele, Carrozzo, Rosalba, Taylor, Robert W., Marquard, Klaus, Murayama, Kei, Wieland, Thomas, Schwarzmayr, Thomas, Mayr, Johannes A., Pearce, Sarah F., Powell, Christopher A., Saada, Ann, Ohtake, Akira, Invernizzi, Federica, Lamantea, Eleonora, Sommerville, Ewen W., Pyle, Angela, Chinnery, Patrick F., Crushell, Ellen, Okazaki, Yasushi, Kohda, Masakazu, Kishita, Yoshihito, Tokuzawa, Yoshimi, Assouline, Zahra, Rio, Marlène, Feillet, François, Mousson de Camaret, Bénédict, Chretien, Dominique, Munnich, Arnold, Menten, Björn, Sante, Tom, Smet, Joél, Régal, Luc, Lorber, Abraham, Khoury, Asaad, Zeviani, Massimo, Strom, Tim M., Meitinger, Thomas, Bertini, Enrico S., Van Coster, Rudy, Klopstock, Thomas, Rötig, Agnès, Haack, Tobias B., Minczuk, Michal, Prokisch, Holger

“…Respiratory chain deficiencies exhibit a wide variety of clinical phenotypes resulting from defective mitochondrial energy production through oxidative…”
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Association between endometrial senescent cells and immune cells in women with repeated implantation failure by Parvanov, D., Ganeva, R., Arsov, K., Decheva, I., Handzhiyska, M., Ruseva, M., Vidolova, N., Scarpellini, F., Metodiev, D., Stamenov, G.

“…Purpose The aim of this study was to compare women with recurrent implantation failure (RIF) and control group in terms of the associations between…”
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MTERF3 regulates mitochondrial ribosome biogenesis in invertebrates and mammals by Wredenberg, Anna, Lagouge, Marie, Bratic, Ana, Metodiev, Metodi D, Spåhr, Henrik, Mourier, Arnaud, Freyer, Christoph, Ruzzenente, Benedetta, Tain, Luke, Grönke, Sebastian, Baggio, Francesca, Kukat, Christian, Kremmer, Elisabeth, Wibom, Rolf, Polosa, Paola Loguercio, Habermann, Bianca, Partridge, Linda, Park, Chan Bae, Larsson, Nils-Göran

“…Regulation of mitochondrial DNA (mtDNA) expression is critical for the control of oxidative phosphorylation in response to physiological demand, and this…”
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Variable and Tissue-Specific Subunit Composition of Mitochondrial m-AAA Protease Complexes Linked to Hereditary Spastic Paraplegia by Koppen, Mirko, Metodiev, Metodi D., Casari, Giorgio, Rugarli, Elena I., Langer, Thomas

“…Article Usage Stats Services MCB Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency by Sánchez-Caballero, Laura, Ruzzenente, Benedetta, Bianchi, Lucas, Assouline, Zahra, Barcia, Giulia, Metodiev, Metodi D., Rio, Marlène, Funalot, Benoît, van den Brand, Mariël A.M., Guerrero-Castillo, Sergio, Molenaar, Joery P., Koolen, David, Brandt, Ulrich, Rodenburg, Richard J., Nijtmans, Leo G., Rötig, Agnès

“…Mitochondrial complex I deficiency results in a plethora of often severe clinical phenotypes manifesting in early childhood. Here, we report on three…”
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Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies by Metodiev, Metodi D., Thompson, Kyle, Alston, Charlotte L., Morris, Andrew A.M., He, Langping, Assouline, Zarah, Rio, Marlène, Bahi-Buisson, Nadia, Pyle, Angela, Griffin, Helen, Siira, Stefan, Filipovska, Aleksandra, Munnich, Arnold, Chinnery, Patrick F., McFarland, Robert, Rötig, Agnès, Taylor, Robert W.

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Three Cases of Encephalopathy / Disseminated Encephalomyelitis in SARS-COV-2 Infection by Metodiev D., Toshev Y., Anachkov K., Sarbyanova N., Nachev S.

“…Аs many other viral pandemics, the current SARS-CoV-2 is also characterized by nervous system involvement, mainly in elderly patients with comorbidities…”
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Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of Cardiomyopathy by Cafournet, Cérane, Zanin, Sofia, Guimier, Anne, Hully, Marie, Assouline, Zahra, Barcia, Giulia, de Lonlay, Pascale, Steffann, Julie, Munnich, Arnold, Bonnefont, Jean-Paul, Rötig, Agnès, Ruzzenente, Benedetta, Metodiev, Metodi D

“…Transcription of mitochondrial DNA generates long polycistronic precursors whose nucleolytic cleavage yields the individual mtDNA-encoded transcripts. In most…”
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Cardiac Hamartomas: Report of Two Rare Primary Cardiac Tumors (Rhabdomyoma and Hamartoma of Mature Cardiomyocytes) with Review of the Literature by Metodiev D., Gegova A., Ruseva M., Ganeva R., Parvanov D., Marinov R., Georgiev D., Staneva-Mitkova D., Stamenov G.

“…The most common primary cardiac tumors are myxomas, while cardiac hamartomas are rare. Cardiac hamartomas may constitute manifestation of a genetic disorder…”
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Loss of TFB1M results in mitochondrial dysfunction that leads to impaired insulin secretion and diabetes by Sharoyko, Vladimir V, Abels, Mia, Sun, Jiangming, Nicholas, Lisa M, Mollet, Ines Guerra, Stamenkovic, Jelena A, Göhring, Isabel, Malmgren, Siri, Storm, Petter, Fadista, João, Spégel, Peter, Metodiev, Metodi D, Larsson, Nils-Göran, Eliasson, Lena, Wierup, Nils, Mulder, Hindrik

“…We have previously identified transcription factor B1 mitochondrial (TFB1M) as a type 2 diabetes (T2D) risk gene, using human and mouse genetics. To further…”
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A Common Variant in TFB1M Is Associated with Reduced Insulin Secretion and Increased Future Risk of Type 2 Diabetes by Koeck, Thomas, Olsson, Anders H., Nitert, Marloes Dekker, Sharoyko, Vladimir V., Ladenvall, Claes, Kotova, Olga, Reiling, Erwin, Rönn, Tina, Parikh, Hemang, Taneera, Jalal, Eriksson, Johan G., Metodiev, Metodi D., Larsson, Nils-Göran, Balhuizen, Alexander, Luthman, Holger, Stančáková, Alena, Kuusisto, Johanna, Laakso, Markku, Poulsen, Pernille, Vaag, Allan, Groop, Leif, Lyssenko, Valeriya, Mulder, Hindrik, Ling, Charlotte

“…Type 2 diabetes (T2D) evolves when insulin secretion fails. Insulin release from the pancreatic β cell is controlled by mitochondrial metabolism, which…”
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Overexpression of the mitochondrial methyltransferase TFB1M in the mouse does not impact mitoribosomal methylation status or hearing by Lee, Seungmin, Rose, Simon, Metodiev, Metodi D, Becker, Lore, Vernaleken, Alexandra, Klopstock, Thomas, Gailus-Durner, Valerie, Fuchs, Helmut, Hrabě De Angelis, Martin, Douthwaite, Stephen, Larsson, Nils-Göran

“…Mitochondrial dysfunction is a well-established cause of sensorineural deafness, but the pathophysiological events are poorly understood. Non-syndromic…”
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Linear Density Sucrose Gradients to Study Mitoribosomal Biogenesis in Tissue-Specific Knockout Mice by Ruzzenente, Benedetta, Metodiev, Metodi D

“…Like bacterial and cytoplasmic ribosomes, mitoribosomes are large ribonucleoprotein complexes with molecular weights in the range of several million Daltons…”
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Mouse models for mitochondrial diseases by Ruzzenente, Benedetta, Rötig, Agnès, Metodiev, Metodi D

“…Mitochondrial diseases are heterogeneous and incurable conditions typically resulting from deficient ATP production in the cells. Mice, owing to their genetic…”
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Mutations in the MRPS28 gene encoding the small mitoribosomal subunit protein bS1m in a patient with intrauterine growth retardation, craniofacial dysmorphism and multisystemic involvement by Pulman, Juliette, Ruzzenente, Benedetta, Bianchi, Lucas, Rio, Marlène, Boddaert, Nathalie, Munnich, Arnold, Rötig, Agnès, Metodiev, Metodi D

“…Abstract Mitochondria contain a dedicated translation system, which is responsible for the intramitochondrial synthesis of 13 mitochondrial DNA (mtDNA)-encoded…”
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