Search Results - "Boczonadi, Veronika"

Mitochondria: Impaired mitochondrial translation in human disease by Boczonadi, Veronika, Horvath, Rita

“…•We present an overview on mitochondrial protein synthesis.•We summarise nuclear factors involved in mitochondrial protein synthesis.•Tissue specific…”
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The role of tRNA synthetases in neurological and neuromuscular disorders by Boczonadi, Veronika, Jennings, Matthew J., Horvath, Rita

“…Aminoacyl‐tRNA synthetases (ARSs) are ubiquitously expressed enzymes responsible for charging tRNAs with their cognate amino acids, therefore essential for the…”
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Mitochondrial DNA transcription and translation: clinical syndromes by Boczonadi, Veronika, Ricci, Giulia, Horvath, Rita

“…Diagnosing primary mitochondrial diseases is challenging in clinical practice. Although, defective oxidative phosphorylation (OXPHOS) is the common final…”
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Salbutamol modifies the neuromuscular junction in a mouse model of ColQ myasthenic syndrome by McMacken, Grace M, Spendiff, Sally, Whittaker, Roger G, O’Connor, Emily, Howarth, Rachel M, Boczonadi, Veronika, Horvath, Rita, Slater, Clarke R, Lochmüller, Hanns

“…Abstract The β-adrenergic agonists salbutamol and ephedrine have proven to be effective as therapies for human disorders of the neuromuscular junction, in…”
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Reversible infantile mitochondrial diseases by Boczonadi, Veronika, Bansagi, Boglarka, Horvath, Rita

“…Mitochondrial diseases are usually severe and progressive conditions; however, there are rare forms that show remarkable spontaneous recoveries. Two…”
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Spatial transcriptomics reveals novel genes during the remodelling of the embryonic human arterial valves by Queen, Rachel, Crosier, Moira, Eley, Lorraine, Kerwin, Janet, Turner, Jasmin E, Yu, Jianshi, Alqahtani, Ahlam, Dhanaseelan, Tamilvendhan, Overman, Lynne, Soetjoadi, Hannah, Baldock, Richard, Coxhead, Jonathan, Boczonadi, Veronika, Laude, Alex, Cockell, Simon J, Kane, Maureen A, Lisgo, Steven, Henderson, Deborah J

“…Abnormalities of the arterial valves, including bicuspid aortic valve (BAV) are amongst the most common congenital defects and are a significant cause of…”
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Amyloid‐β in mitochondrial disease: mutation in a human metallopeptidase links amyloidotic neurodegeneration with mitochondrial processing by Boczonadi, Veronika, Horvath, Rita

“…There is increasing evidence that common molecular pathways in neurons are closely linked with mitochondrial function and that mitochondrial dysfunction is…”
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Synaptotagmin 2 Mutations Cause an Autosomal-Dominant Form of Lambert-Eaton Myasthenic Syndrome and Nonprogressive Motor Neuropathy by Herrmann, David N., Horvath, Rita, Sowden, Janet E., Gonzales, Michael, Sanchez-Mejias, Avencia, Guan, Zhuo, Whittaker, Roger G., Almodovar, Jorge L., Lane, Maria, Bansagi, Boglarka, Pyle, Angela, Boczonadi, Veronika, Lochmüller, Hanns, Griffin, Helen, Chinnery, Patrick F., Lloyd, Thomas E., Littleton, J. Troy, Zuchner, Stephan

“…Synaptotagmin 2 is a synaptic vesicle protein that functions as a calcium sensor for neurotransmission but has not been previously associated with human…”
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Mutations in glycyl-tRNA synthetase impair mitochondrial metabolism in neurons by Boczonadi, Veronika, Meyer, Kathrin, Gonczarowska-Jorge, Humberto, Griffin, Helen, Roos, Andreas, Bartsakoulia, Marina, Bansagi, Boglarka, Ricci, Giulia, Palinkas, Fanni, Zahedi, René P, Bruni, Francesco, Kaspar, Brian, Lochmüller, Hanns, Boycott, Kym M, Müller, Juliane S, Horvath, Rita

“…Abstract The nuclear-encoded glycyl-tRNA synthetase gene (GARS) is essential for protein translation in both cytoplasm and mitochondria. In contrast, different…”
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Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency by Boczonadi, Veronika, Smith, Paul M, Pyle, Angela, Gomez-Duran, Aurora, Schara, Ulrike, Tulinius, Mar, Chinnery, Patrick F, Horvath, Rita

“…Childhood-onset mitochondrial encephalomyopathies are severe, relentlessly progressive conditions. However, reversible infantile respiratory chain deficiency…”
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ANO10 mutations cause ataxia and coenzyme Q10 deficiency by Balreira, Andrea, Boczonadi, Veronika, Barca, Emanuele, Pyle, Angela, Bansagi, Boglarka, Appleton, Marie, Graham, Claire, Hargreaves, Iain P., Rasic, Vedrana Milic, Lochmüller, Hanns, Griffin, Helen, Taylor, Robert W., Naini, Ali, Chinnery, Patrick F., Hirano, Michio, Quinzii, Catarina M., Horvath, Rita

“…Inherited ataxias are heterogeneous disorders affecting both children and adults, with over 40 different causative genes, making molecular genetic diagnosis…”
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Deciphering the spatiotemporal transcriptional and chromatin accessibility of human retinal organoid development at the single-cell level by Dorgau, Birthe, Collin, Joseph, Rozanska, Agata, Boczonadi, Veronika, Moya-Molina, Marina, Unsworth, Adrienne, Hussain, Rafiqul, Coxhead, Jonathan, Dhanaseelan, Tamil, Armstrong, Lyle, Queen, Rachel, Lako, Majlinda

“…Molecular information on the early stages of human retinal development remains scarce due to limitations in obtaining early human eye samples. Pluripotent stem…”
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Retinal pigment epithelium extracellular vesicles are potent inducers of age‐related macular degeneration disease phenotype in the outer retina by Kurzawa‐Akanbi, Marzena, Whitfield, Phillip, Burté, Florence, Bertelli, Pietro Maria, Pathak, Varun, Doherty, Mary, Hilgen, Birthe, Gliaudelytė, Lina, Platt, Mark, Queen, Rachel, Coxhead, Jonathan, Porter, Andrew, Öberg, Maria, Fabrikova, Daniela, Davey, Tracey, Beh, Chia Shyan, Georgiou, Maria, Collin, Joseph, Boczonadi, Veronika, Härtlova, Anetta, Taggart, Michael, Al‐Aama, Jumana, Korolchuk, Viktor I, Morris, Christopher M, Guduric‐Fuchs, Jasenka, Steel, David H, Medina, Reinhold J, Armstrong, Lyle, Lako, Majlinda

“…Age‐related macular degeneration (AMD) is a leading cause of blindness. Vision loss is caused by the retinal pigment epithelium (RPE) and photoreceptors…”
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Confocal Endomicroscopy of Neuromuscular Junctions Stained with Physiologically Inert Protein Fragments of Tetanus Toxin by Roesl, Cornelia, Evans, Elizabeth R, Dissanayake, Kosala N, Boczonadi, Veronika, Jones, Ross A, Jordan, Graeme R, Ledahawsky, Leire, Allen, Guy C C, Scott, Molly, Thomson, Alanna, Wishart, Thomas M, Hughes, David I, Mead, Richard J, Shone, Clifford C, Slater, Clarke R, Gillingwater, Thomas H, Skehel, Paul A, Ribchester, Richard R

“…Live imaging of neuromuscular junctions (NMJs) in situ has been constrained by the suitability of ligands for inert vital staining of motor nerve terminals…”
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Functional Analysis of Periplakin and Envoplakin, Cytoskeletal Linkers, and Cornified Envelope Precursor Proteins by Boczonadi, Veronika, Määttä, Arto

“…Envoplakin and periplakin are the two smallest plakin family cytoskeletal linker proteins that connect intermediate filaments to cellular junctions and other…”
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Mitochondrial aminoacyl-tRNA synthetases trigger unique compensatory mechanisms in neurons by Podmanicky, Oliver, Gao, Fei, Munro, Benjamin, Jennings, Matthew J, Boczonadi, Veronika, Hathazi, Denisa, Mueller, Juliane S, Horvath, Rita

“…Abstract Mitochondrial aminoacyl-tRNA synthetase (mt-ARS) mutations cause severe, progressive, and often lethal diseases with highly heterogeneous and…”
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Genetic heterogeneity of motor neuropathies by Bansagi, Boglarka, Griffin, Helen, Whittaker, Roger G, Antoniadi, Thalia, Evangelista, Teresinha, Miller, James, Greenslade, Mark, Forester, Natalie, Duff, Jennifer, Bradshaw, Anna, Kleinle, Stephanie, Boczonadi, Veronika, Steele, Hannah, Ramesh, Venkateswaran, Franko, Edit, Pyle, Angela, Lochmüller, Hanns, Chinnery, Patrick F, Horvath, Rita

“…OBJECTIVE:To study the prevalence, molecular cause, and clinical presentation of hereditary motor neuropathies in a large cohort of patients from the North of…”
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Annexin A9 is a periplakin interacting partner in membrane-targeted cytoskeletal linker protein complexes by Boczonadi, Veronika, Määttä, Arto

“…► Annexin A9 immunoprecipitates with N-terminus of a cytolinker protein periplakin. ► Periplakin and annexin A9 co-localise in epithelia and epidermis. ►…”
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A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies by Bartsakoulia, Marina, Pyle, Angela, Troncoso-Chandía, Diego, Vial-Brizzi, Josefa, Paz-Fiblas, Marysol V, Duff, Jennifer, Griffin, Helen, Boczonadi, Veronika, Lochmüller, Hanns, Kleinle, Stephanie, Chinnery, Patrick F, Grünert, Sarah, Kirschner, Janbernd, Eisner, Verónica, Horvath, Rita

“…Abstract Mitochondrial dynamics play an important role in cellular homeostasis and a variety of human diseases are linked to its dysregulated function. Here,…”
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Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathy by Giunta, Michele, Edvardson, Shimon, Xu, Yaobo, Schuelke, Markus, Gomez-Duran, Aurora, Boczonadi, Veronika, Elpeleg, Orly, Müller, Juliane S, Horvath, Rita

“…The exosome complex is the most important RNA processing machinery within the cell. Mutations in its subunits EXOSC8 and EXOSC3 cause pontocerebellar…”
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