Search Results - "Shoubridge, Eric A."

Mitochondrial RNA Granules Are Centers for Posttranscriptional RNA Processing and Ribosome Biogenesis by Antonicka, Hana, Shoubridge, Eric A.

“…Cytoplasmic RNA granules play a central role in mRNA metabolism, but the importance of mitochondrial RNA granules remains relatively unexplored. We…”
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The Mitochondrial RNA-Binding Protein GRSF1 Localizes to RNA Granules and Is Required for Posttranscriptional Mitochondrial Gene Expression by Antonicka, Hana, Sasarman, Florin, Nishimura, Tamiko, Paupe, Vincent, Shoubridge, Eric A.

“…RNA-binding proteins are at the heart of posttranscriptional gene regulation, coordinating the processing, storage, and handling of cellular RNAs. We show here…”
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LONP1 Is Required for Maturation of a Subset of Mitochondrial Proteins, and Its Loss Elicits an Integrated Stress Response by Zurita Rendón, Olga, Shoubridge, Eric A.

“…LONP1, an AAA+ mitochondrial protease, is implicated in protein quality control, but its precise role in this process remains poorly understood. In this study,…”
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Multi-OMICS study of a CHCHD10 variant causing ALS demonstrates metabolic rewiring and activation of endoplasmic reticulum and mitochondrial unfolded protein responses by Straub, Isabella R, Weraarpachai, Woranontee, Shoubridge, Eric A

“…Abstract Mutations in CHCHD10, coding for a mitochondrial intermembrane space protein, are a rare cause of autosomal dominant amyotrophic lateral sclerosis…”
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BOLA3 and NFU1 link mitoribosome iron-sulfur cluster assembly to multiple mitochondrial dysfunctions syndrome by Zhong, Hui, Janer, Alexandre, Khalimonchuk, Oleh, Antonicka, Hana, Shoubridge, Eric A, Barrientos, Antoni

“…The human mitochondrial ribosome contains three [2Fe-2S] clusters whose assembly pathway, role, and implications for mitochondrial and metabolic diseases are…”
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MITRAC Links Mitochondrial Protein Translocation to Respiratory-Chain Assembly and Translational Regulation by Mick, David U., Dennerlein, Sven, Wiese, Heike, Reinhold, Robert, Pacheu-Grau, David, Lorenzi, Isotta, Sasarman, Florin, Weraarpachai, Woranontee, Shoubridge, Eric A., Warscheid, Bettina, Rehling, Peter

“…Mitochondrial respiratory-chain complexes assemble from subunits of dual genetic origin assisted by specialized assembly factors. Whereas core subunits are…”
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A High-Density Human Mitochondrial Proximity Interaction Network by Antonicka, Hana, Lin, Zhen-Yuan, Janer, Alexandre, Aaltonen, Mari J., Weraarpachai, Woranontee, Gingras, Anne-Claude, Shoubridge, Eric A.

“…We used BioID, a proximity-dependent biotinylation assay with 100 mitochondrial baits from all mitochondrial sub-compartments, to create a high-resolution…”
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The mitochondrial DNA genetic bottleneck results from replication of a subpopulation of genomes by Shoubridge, Eric A, Wai, Timothy, Teoli, Daniella

“…In mammals, mitochondrial DNA (mtDNA) sequence variants are observed to segregate rapidly between generations despite the high mtDNA copy number in the oocyte…”
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Reconstitution of mitochondria derived vesicle formation demonstrates selective enrichment of oxidized cargo by Soubannier, Vincent, Rippstein, Peter, Kaufman, Brett A, Shoubridge, Eric A, McBride, Heidi M

“…The mechanisms that ensure the removal of damaged mitochondrial proteins and lipids are critical for the health of the cell, and errors in these pathways are…”
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CCDC90A (MCUR1) Is a Cytochrome c Oxidase Assembly Factor and Not a Regulator of the Mitochondrial Calcium Uniporter by Paupe, Vincent, Prudent, Julien, Dassa, Emmanuel P., Rendon, Olga Zurita, Shoubridge, Eric A.

“…Mitochondrial calcium is an important modulator of cellular metabolism. CCDC90A was reported to be a regulator of the mitochondrial calcium uniporter (MCU)…”
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Mutations in Iron-Sulfur Cluster Scaffold Genes NFU1 and BOLA3 Cause a Fatal Deficiency of Multiple Respiratory Chain and 2-Oxoacid Dehydrogenase Enzymes by Cameron, Jessie M., Janer, Alexandre, Levandovskiy, Valeriy, MacKay, Nevena, Rouault, Tracey A., Tong, Wing-Hang, Ogilvie, Isla, Shoubridge, Eric A., Robinson, Brian H.

“…Severe combined deficiency of the 2-oxoacid dehydrogenases, associated with a defect in lipoate synthesis and accompanied by defects in complexes I, II, and…”
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Mitochondrial disease therapy from thin air? by Shoubridge, Eric A.

“…Low-oxygen treatment slows neurodegeneration in a model of a mitochondrial disorder [Also see Research Article by Jain et al. ] The mitochondrial oxidative…”
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SPTLC1 variants associated with ALS produce distinct sphingolipid signatures through impaired interaction with ORMDL proteins by Lone, Museer A, Aaltonen, Mari J, Zidell, Aliza, Pedro, Helio F, Morales Saute, Jonas A, Mathew, Shalett, Mohassel, Payam, Bönnemann, Carsten G, Shoubridge, Eric A, Hornemann, Thorsten

“…Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease that affects motor neurons. Mutations in the SPTLC1 subunit of serine…”
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The human mitochondrial translation factor TACO1 alleviates mitoribosome stalling at polyproline stretches by Brischigliaro, Michele, Krüger, Annika, Moran, J Conor, Antonicka, Hana, Ahn, Ahram, Shoubridge, Eric A, Rorbach, Joanna, Barrientos, Antoni

“…Abstract The prokaryotic translation elongation factor P (EF-P) and the eukaryotic/archaeal counterparts eIF5A/aIF5A are proteins that serve a crucial role in…”
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SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome by Janer, Alexandre, Prudent, Julien, Paupe, Vincent, Fahiminiya, Somayyeh, Majewski, Jacek, Sgarioto, Nicolas, Des Rosiers, Christine, Forest, Anik, Lin, Zhen‐Yuan, Gingras, Anne‐Claude, Mitchell, Grant, McBride, Heidi M, Shoubridge, Eric A

“…Mitochondria form a dynamic network that responds to physiological signals and metabolic stresses by altering the balance between fusion and fission…”
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Human SCO2 is required for the synthesis of CO II and as a thiol-disulphide oxidoreductase for SCO1 by Leary, Scot C., Sasarman, Florin, Nishimura, Tamiko, Shoubridge, Eric A.

“…Human SCO1 and SCO2 code for essential metallochaperones with ill-defined functions in the biogenesis of the CuA site of cytochrome c oxidase subunit II (CO…”
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Mutation in TACO1 , encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome by Chevrette, Mario, Antonicka, Hana, Weraarpachai, Woranontee, Sasarman, Florin, Shoubridge, Eric A, Schrank, Bertold, Kaufman, Brett A, Kolesar, Jill E, Lochmüller, Hanns, Horvath, Rita, Seeger, Jürgen

“…Defects in mitochondrial translation are among the most common causes of mitochondrial disease, but the mechanisms that regulate mitochondrial translation…”
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Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans by Bayat, Vafa, Thiffault, Isabelle, Jaiswal, Manish, Tétreault, Martine, Donti, Taraka, Sasarman, Florin, Bernard, Geneviève, Demers-Lamarche, Julie, Dicaire, Marie-Josée, Mathieu, Jean, Vanasse, Michel, Bouchard, Jean-Pierre, Rioux, Marie-France, Lourenco, Charles M, Li, Zhihong, Haueter, Claire, Shoubridge, Eric A, Graham, Brett H, Brais, Bernard, Bellen, Hugo J

“…An increasing number of genes required for mitochondrial biogenesis, dynamics, or function have been found to be mutated in metabolic disorders and…”
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Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism by Coelho, David, Kim, Jaeseung C, Miousse, Isabelle R, Fung, Stephen, du Moulin, Marcel, Buers, Insa, Suormala, Terttu, Burda, Patricie, Frapolli, Michele, Stucki, Martin, Nürnberg, Peter, Thiele, Holger, Robenek, Horst, Höhne, Wolfgang, Longo, Nicola, Pasquali, Marzia, Mengel, Eugen, Watkins, David, Shoubridge, Eric A, Majewski, Jacek, Rosenblatt, David S, Fowler, Brian, Rutsch, Frank, Baumgartner, Matthias R

“…Brian Fowler, David Rosenblatt and colleagues show that mutations in the ABC transporter gene ABCD4 cause a new inborn error of vitamin B 12 metabolism. ABCD4…”
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Loss of mitochondrial Chchd10 or Chchd2 in zebrafish leads to an ALS‐like phenotype and Complex I deficiency independent of the mitochondrial integrated stress response by Petel Légaré, Virginie, Rampal, Christian J., Gurberg, Tyler J. N., Aaltonen, Mari J., Janer, Alexandre, Zinman, Lorne, Shoubridge, Eric A., Armstrong, Gary A. B.

“…Mutations in CHCHD10 and CHCHD2, encoding two paralogous mitochondrial proteins, have been identified in cases of amyotrophic lateral sclerosis, frontotemporal…”
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