Search Results - "Spelbrink, Johannes N."

TCA Cycle and Mitochondrial Membrane Potential Are Necessary for Diverse Biological Functions by Martínez-Reyes, Inmaculada, Diebold, Lauren P., Kong, Hyewon, Schieber, Michael, Huang, He, Hensley, Christopher T., Mehta, Manan M., Wang, Tianyuan, Santos, Janine H., Woychik, Richard, Dufour, Eric, Spelbrink, Johannes N., Weinberg, Samuel E., Zhao, Yingming, DeBerardinis, Ralph J., Chandel, Navdeep S.

“…Mitochondrial metabolism is necessary for the maintenance of oxidative TCA cycle function and mitochondrial membrane potential. Previous attempts to decipher…”
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Functional organization of mammalian mitochondrial DNA in nucleoids: History, recent developments, and future challenges by Spelbrink, Johannes N.

“…Various proteins involved in replication, repair, and the structural organization of mitochondrial DNA (mtDNA) have been characterized in detail over the past…”
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DNA Sequences Proximal to Human Mitochondrial DNA Deletion Breakpoints Prevalent in Human Disease Form G-quadruplexes, a Class of DNA Structures Inefficiently Unwound by the Mitochondrial Replicative Twinkle Helicase by Bharti, Sanjay Kumar, Sommers, Joshua A., Zhou, Jun, Kaplan, Daniel L., Spelbrink, Johannes N., Mergny, Jean-Louis, Brosh, Robert M.

“…Mitochondrial DNA deletions are prominent in human genetic disorders, cancer, and aging. It is thought that stalling of the mitochondrial replication machinery…”
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The human SIRT3 protein deacetylase is exclusively mitochondrial by Cooper, Helen M, Spelbrink, Johannes N

“…It has recently been suggested that perhaps as many as 20% of all mitochondrial proteins are regulated through lysine acetylation while SIRT3 has been…”
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Top3α is the replicative topoisomerase in mitochondrial DNA replication by Hangas, Anu, Kekäläinen, Nina J, Potter, Alisa, Michell, Craig, Aho, Kauko J, Rutanen, Chiara, Spelbrink, Johannes N, Pohjoismäki, Jaakko L, Goffart, Steffi

“…Abstract Mitochondrial DNA has been investigated for nearly fifty years, but many aspects of the maintenance of this essential small genome remain unknown…”
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Human Mitochondrial DNA-Protein Complexes Attach to a Cholesterol-Rich Membrane Structure by Gerhold, Joachim M., Cansiz-Arda, Şirin, Lõhmus, Madis, Engberg, Oskar, Reyes, Aurelio, van Rennes, Helga, Sanz, Alberto, Holt, Ian J., Cooper, Helen M., Spelbrink, Johannes N.

“…The helicase Twinkle is indispensable for mtDNA replication in nucleoids. Previously, we showed that Twinkle is tightly membrane-associated even in the absence…”
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CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder by Wortmann, Saskia B., Ziętkiewicz, Szymon, Kousi, Maria, Szklarczyk, Radek, Haack, Tobias B., Gersting, Søren W., Muntau, Ania C., Rakovic, Aleksandar, Renkema, G. Herma, Rodenburg, Richard J., Strom, Tim M., Meitinger, Thomas, Rubio-Gozalbo, M. Estela, Chrusciel, Elzbieta, Distelmaier, Felix, Golzio, Christelle, Jansen, Joop H., van Karnebeek, Clara, Lillquist, Yolanda, Lücke, Thomas, Õunap, Katrin, Zordania, Riina, Yaplito-Lee, Joy, van Bokhoven, Hans, Spelbrink, Johannes N., Vaz, Frédéric M., Pras-Raves, Mia, Ploski, Rafal, Pronicka, Ewa, Klein, Christine, Willemsen, Michel A.A.P., de Brouwer, Arjan P.M., Prokisch, Holger, Katsanis, Nicholas, Wevers, Ron A.

“…We studied a group of individuals with elevated urinary excretion of 3-methylglutaconic acid, neutropenia that can develop into leukemia, a neurological…”
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The mitochondrial outer-membrane location of the EXD2 exonuclease contradicts its direct role in nuclear DNA repair by Hensen, Fenna, Moretton, Amandine, van Esveld, Selma, Farge, Géraldine, Spelbrink, Johannes N.

“…EXD2 is a recently identified exonuclease that has been implicated in nuclear double-strand break repair. Given our long standing interest in mitochondrial DNA…”
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Somatic mtDNA Mutations Cause Aging Phenotypes without Affecting Reactive Oxygen Species Production by Aleksandra Trifunovic, Hansson, Anna, Wredenberg, Anna, Anja T. Rovio, Dufour, Eric, Ivan Khvorostov, Johannes N. Spelbrink, Wibom, Rolf, Jacobs, Howard T., Larsson, Nils-Göran

“…The mitochondrial theory of aging proposes that reactive oxygen species (ROS) generated inside the cell will lead, with time, to increasing amounts of…”
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Mutant Mitochondrial Helicase Twinkle Causes Multiple mtDNA Deletions and a Late-Onset Mitochondrial Disease in Mice by Henna Tyynismaa, Katja Peltola Mjosund, Sjoerd Wanrooij, Ilse Lappalainen, Emil Ylikallio, Anu Jalanko, Johannes N. Spelbrink, Anders Paetau, Suomalainen, Anu

“…Defects of mitochondrial DNA (mtDNA) maintenance have recently been associated with inherited neurodegenerative and muscle diseases and the aging process…”
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Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion by Sarzi, Emmanuelle, Goffart, Steffi, Serre, Valérie, Chrétien, Dominique, Slama, Abdelhamid, Munnich, Arnold, Spelbrink, Johannes N., Rötig, Agnès

“…Objective Mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically and genetically heterogeneous group of autosomal recessive diseases characterized…”
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A new splice variant of the mouse SIRT3 gene encodes the mitochondrial precursor protein by Cooper, Helen M, Huang, Jing-Yi, Verdin, Eric, Spelbrink, Johannes N

“…Mammals have seven NAD-dependent protein deacetylases. These proteins, called sirtuins, are homologous to yeast Sir2, and are emerging as important regulators…”
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Whole cell formaldehyde cross-linking simplifies purification of mitochondrial nucleoids and associated proteins involved in mitochondrial gene expression by Rajala, Nina, Hensen, Fenna, Wessels, Hans J C T, Ives, Daniel, Gloerich, Jolein, Spelbrink, Johannes N

“…Mitochondrial DNA/protein complexes (nucleoids) appear as discrete entities inside the mitochondrial network when observed by live-cell imaging and…”
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AAA⁺ protein ATAD3 has displacement loop binding properties and is involved in mitochondrial nucleoid organization by He, Jiuya, Mao, Chih-Chieh, Reyes, Aurelio, Sembongi, Hiroshi, Di Re, Miriam, Granycome, Caroline, Clippingdale, Andrew B, Fearnley, Ian M, Harbour, Michael, Robinson, Alan J, Reichelt, Stefanie, Spelbrink, Johannes N, Walker, John E, Holt, Ian J

“…Many copies of mammalian mitochondrial DNA contain a short triple-stranded region, or displacement loop (D-loop), in the major noncoding region. In the 35…”
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Mammalian Mitochondrial DNA Replication Intermediates Are Essentially Duplex but Contain Extensive Tracts of RNA/DNA Hybrid by Pohjoismäki, Jaakko L.O., Holmes, J. Bradley, Wood, Stuart R., Yang, Ming-Yao, Yasukawa, Takehiro, Reyes, Aurelio, Bailey, Laura J., Cluett, Tricia J., Goffart, Steffi, Willcox, Smaranda, Rigby, Rachel E., Jackson, Andrew P., Spelbrink, Johannes N., Griffith, Jack D., Crouch, Robert J., Jacobs, Howard T., Holt, Ian J.

“…We demonstrate, using transmission electron microscopy and immunopurification with an antibody specific for RNA/DNA hybrid, that intact mitochondrial DNA…”
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Expression of catalytic mutants of the mtDNA helicase Twinkle and polymerase POLG causes distinct replication stalling phenotypes by Wanrooij, Sjoerd, Goffart, Steffi, Pohjoismäki, Jaakko L.O, Yasukawa, Takehiro, Spelbrink, Johannes N

“…The mechanism of mitochondrial DNA replication is a subject of intense debate. One model proposes a strand-asynchronous replication in which both strands of…”
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Composition and dynamics of human mitochondrial nucleoids by Garrido, Nuria, Griparic, Lorena, Jokitalo, Eija, Wartiovaara, Jorma, van der Bliek, Alexander M, Spelbrink, Johannes N

“…The organization of multiple mitochondrial DNA (mtDNA) molecules in discrete protein-DNA complexes called nucleoids is well studied in Saccharomyces…”
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Analysis of 953 human proteins from a mitochondrial HEK293 fraction by complexome profiling by Wessels, Hans J C T, Vogel, Rutger O, Lightowlers, Robert N, Spelbrink, Johannes N, Rodenburg, Richard J, van den Heuvel, Lambert P, van Gool, Alain J, Gloerich, Jolein, Smeitink, Jan A M, Nijtmans, Leo G

“…Complexome profiling is a novel technique which uses shotgun proteomics to establish protein migration profiles from fractionated blue native electrophoresis…”
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Alterations to the expression level of mitochondrial transcription factor A, TFAM, modify the mode of mitochondrial DNA replication in cultured human cells by Pohjoismäki, Jaakko L.O, Wanrooij, Sjoerd, Hyvärinen, Anne K, Goffart, Steffi, Holt, Ian J, Spelbrink, Johannes N, Jacobs, Howard T

“…Mitochondrial transcription factor A (TFAM) is an abundant mitochondrial protein of the HMG superfamily, with various putative roles in mitochondrial DNA…”
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Human SIRT5 variants with reduced stability and activity do not cause neuropathology in mice by Yuan, Taolin, Kumar, Surinder, Skinner, Mary E., Victor-Joseph, Ryan, Abuaita, Majd, Keijer, Jaap, Zhang, Jessica, Kunkel, Thaddeus J., Liu, Yanghan, Petrunak, Elyse M., Saunders, Thomas L., Lieberman, Andrew P., Stuckey, Jeanne A., Neamati, Nouri, Al-Murshedi, Fathiya, Alfadhel, Majid, Spelbrink, Johannes N., Rodenburg, Richard, de Boer, Vincent C.J., Lombard, David B.

“…SIRT5 is a sirtuin deacylase that removes negatively charged lysine modifications, in the mitochondrial matrix and elsewhere in the cell. In benign cells and…”
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