The Identification of Multidrug-Resistant Microorganisms including Bergeyella zoohelcum Acquired from the Skin/Prosthetic Interface of Amputees and Their Susceptibility to Medihone...

por Harsent, Ruby, Macleod, Joshua, Rowlands, Richard S., Smith, Paul M., Rushmere, Neil, Blaxland, James
Publicado 2022

Our current understanding of the toxicity of altered mito-ribosomal fidelity during mitochondrial protein synthesis: What can it tell us about human disease?

por Vila-Sanjurjo, Antón, Mallo, Natalia, Atkins, John F., Elson, Joanna L., Smith, Paul M.
Publicado 2023

Structural analysis of mitochondrial rRNA gene variants identified in patients with deafness

por Vila-Sanjurjo, Antón, Mallo, Natalia, Elson, Joanna L., Smith, Paul M., Blakely, Emma L., Taylor, Robert W.
Publicado 2023

Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency

por Boczonadi, Veronika, Smith, Paul M., Pyle, Angela, Gomez-Duran, Aurora, Schara, Ulrike, Tulinius, Mar, Chinnery, Patrick F., Horvath, Rita
Publicado 2013

The presence of highly disruptive 16S rRNA mutations in clinical samples indicates a wider role for mutations of the mitochondrial ribosome in human disease

por Elson, Joanna L., Smith, Paul M., Greaves, Laura C., Lightowlers, Robert N., Chrzanowska-Lightowlers, Zofia M.A., Taylor, Robert W., Vila-Sanjurjo, Antón
Publicado 2015

A functional peptidyl-tRNA hydrolase, ICT1, has been recruited into the human mitochondrial ribosome

por Richter, Ricarda, Rorbach, Joanna, Pajak, Aleksandra, Smith, Paul M, Wessels, Hans J, Huynen, Martijn A, Smeitink, Jan A, Lightowlers, Robert N, Chrzanowska-Lightowlers, Zofia M
Publicado 2010

The role of the mitochondrial ribosome in human disease: searching for mutations in 12S mitochondrial rRNA with high disruptive potential

por Smith, Paul M., Elson, Joanna L., Greaves, Laura C., Wortmann, Saskia B., Rodenburg, Richard J.T., Lightowlers, Robert N., Chrzanowska-Lightowlers, Zofia M.A., Taylor, Robert W., Vila-Sanjurjo, Antón
Publicado 2014

Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency

por Kemp, John P., Smith, Paul M., Pyle, Angela, Neeve, Vivienne C. M., Tuppen, Helen A. L., Schara, Ulrike, Talim, Beril, Topaloglu, Haluk, Holinski-Feder, Elke, Abicht, Angela, Czermin, Birgit, Lochmüller, Hanns, McFarland, Robert, Chinnery, Patrick F., Chrzanowska-Lightowlers, Zofia M.A., Lightowlers, Robert N., Taylor, Robert W., Horvath, Rita
Publicado 2011

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

por Horvath, Rita, Kemp, John P., Tuppen, Helen A. L., Hudson, Gavin, Oldfors, Anders, Marie, Suely K. N., Moslemi, Ali-Reza, Servidei, Serenella, Holme, Elisabeth, Shanske, Sara, Kollberg, Gittan, Jayakar, Parul, Pyle, Angela, Marks, Harold M., Holinski-Feder, Elke, Scavina, Mena, Walter, Maggie C., Çoku, Jorida, Günther-Scholz, Andrea, Smith, Paul M., McFarland, Robert, Chrzanowska-Lightowlers, Zofia M. A., Lightowlers, Robert N., Hirano, Michio, Lochmüller, Hanns, Taylor, Robert W., Chinnery, Patrick F., Tulinius, Mar, DiMauro, Salvatore
Publicado 2009