Human pentatricopeptide proteins: Only a few and what do they do?

por Lightowlers, Robert N, Chrzanowska-Lightowlers, Zofia MA
Publicado 2013

Salvaging hope: Is increasing NAD(+) a key to treating mitochondrial myopathy?

por Lightowlers, Robert N, Chrzanowska-Lightowlers, Zofia MA
Publicado 2014

How much does a disrupted mitochondrial network influence neuronal dysfunction?

por Chrzanowska‐Lightowlers, Zofia MA, Lightowlers, Robert N
Publicado 2018

Fine mapping of interactions between eEF1α protein and 3′UTR of metallothionein-1 mRNA

por Fan, Kunbo, Chrzanowska-Lightowlers, Zofia M.A., Hesketh, John E.
Publicado 2009

Mitochondrial transplantation—a possible therapeutic for mitochondrial dysfunction?: Mitochondrial transfer is a potential cure for many diseases but proof of efficacy and safety i...

por Lightowlers, Robert N, Chrzanowska‐Lightowlers, Zofia MA, Russell, Oliver M
Publicado 2020

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

Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNA(Val) carrying the pathogenic C25U mutation

por Rorbach, Joanna, Yusoff, Abdul Aziz, Tuppen, Helen, Abg-Kamaludin, Dyg P., Chrzanowska-Lightowlers, Zofia M.A., Taylor, Robert W., Turnbull, Douglass M., McFarland, Robert, Lightowlers, Robert N.
Publicado 2008

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

The human mitochondrial ribosome recycling factor is essential for cell viability

por Rorbach, Joanna, Richter, Ricarda, Wessels, Hans J., Wydro, Mateusz, Pekalski, Marcin, Farhoud, Murtada, Kühl, Inge, Gaisne, Mauricette, Bonnefoy, Nathalie, Smeitink, Jan A., Lightowlers, Robert N., Chrzanowska-Lightowlers, Zofia M.A.
Publicado 2008

Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency()

por Almalki, Abdulraheem, Alston, Charlotte L., Parker, Alasdair, Simonic, Ingrid, Mehta, Sarju G., He, Langping, Reza, Mojgan, Oliveira, Jorge M.A., Lightowlers, Robert N., McFarland, Robert, Taylor, Robert W., Chrzanowska-Lightowlers, Zofia M.A.
Publicado 2014

A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency

por Oláhová, Monika, Haack, Tobias B, Alston, Charlotte L, Houghton, Jessica AC, He, Langping, Morris, Andrew AM, Brown, Garry K, McFarland, Robert, Chrzanowska-Lightowlers, Zofia MA, Lightowlers, Robert N, Prokisch, Holger, Taylor, Robert W
Publicado 2015

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

Clinical, biochemical, and genetic features associated with VARS2‐related mitochondrial disease

por Bruni, Francesco, Di Meo, Ivano, Bellacchio, Emanuele, Webb, Bryn D., McFarland, Robert, Chrzanowska‐Lightowlers, Zofia M.A., He, Langping, Skorupa, Ewa, Moroni, Isabella, Ardissone, Anna, Walczak, Anna, Tyynismaa, Henna, Isohanni, Pirjo, Mandel, Hanna, Prokisch, Holger, Haack, Tobias, Bonnen, Penelope E., Enrico, Bertini, Pronicka, Ewa, Ghezzi, Daniele, Taylor, Robert W., Diodato, Daria
Publicado 2018

OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect

por Thompson, Kyle, Mai, Nicole, Oláhová, Monika, Scialó, Filippo, Formosa, Luke E, Stroud, David A, Garrett, Madeleine, Lax, Nichola Z, Robertson, Fiona M, Jou, Cristina, Nascimento, Andres, Ortez, Carlos, Jimenez‐Mallebrera, Cecilia, Hardy, Steven A, He, Langping, Brown, Garry K, Marttinen, Paula, McFarland, Robert, Sanz, Alberto, Battersby, Brendan J, Bonnen, Penelope E, Ryan, Michael T, Chrzanowska‐Lightowlers, Zofia MA, Lightowlers, Robert N, Taylor, Robert W
Publicado 2018