Disorders of the Optic Nerve in Mitochondrial Cytopathies: New Ideas on Pathogenesis and Therapeutic Targets

por Sitarz, Kamil S., Chinnery, Patrick F., Yu-Wai-Man, Patrick
Publicado 2012

Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts

por Sitarz, Kamil S., Elliott, Hannah R., Karaman, Betül S., Relton, Caroline, Chinnery, Patrick F., Horvath, Rita
Publicado 2014

OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules

por Yu-Wai-Man, Patrick, Sitarz, Kamil S., Samuels, David C., Griffiths, Philip G., Reeve, Amy K., Bindoff, Laurence A., Horvath, Rita, Chinnery, Patrick F.
Publicado 2010

MFN2 mutations cause compensatory mitochondrial DNA proliferation

por Sitarz, Kamil S., Yu-Wai-Man, Patrick, Pyle, Angela, Stewart, Joanna D., Rautenstrauss, Bernd, Seeman, Pavel, Reilly, Mary M., Horvath, Rita, Chinnery, Patrick F.
Publicado 2012

Synthetically Lethal Interactions of Heme Oxygenase-1 and Fumarate Hydratase Genes

por Podkalicka, Paulina, Mucha, Olga, Kruczek, Szczepan, Biela, Anna, Andrysiak, Kalina, Stępniewski, Jacek, Mikulski, Maciej, Gałęzowski, Michał, Sitarz, Kamil, Brzózka, Krzysztof, Józkowicz, Alicja, Dulak, Józef, Łoboda, Agnieszka
Publicado 2020

Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations

por Liao, Chunyan, Ashley, Neil, Diot, Alan, Morten, Karl, Phadwal, Kanchan, Williams, Andrew, Fearnley, Ian, Rosser, Lyndon, Lowndes, Jo, Fratter, Carl, Ferguson, David J.P., Vay, Laura, Quaghebeur, Gerardine, Moroni, Isabella, Bianchi, Stefania, Lamperti, Costanza, Downes, Susan M., Sitarz, Kamil S., Flannery, Padraig J., Carver, Janet, Dombi, Eszter, East, Daniel, Laura, Matilde, Reilly, Mary M., Mortiboys, Heather, Prevo, Remko, Campanella, Michelangelo, Daniels, Matthew J., Zeviani, Massimo, Yu-Wai-Man, Patrick, Simon, Anna Katharina, Votruba, Marcela, Poulton, Joanna
Publicado 2017

Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance

por Pfeffer, Gerald, Gorman, Gráinne S, Griffin, Helen, Kurzawa-Akanbi, Marzena, Blakely, Emma L., Wilson, Ian, Sitarz, Kamil, Moore, David, Murphy, Julie L., Alston, Charlotte L., Pyle, Angela, Coxhead, Jon, Payne, Brendan, Gorrie, George H., Longman, Cheryl, Hadjivassiliou, Marios, McConville, John, Dick, David, Imam, Ibrahim, Hilton, David, Norwood, Fiona, Baker, Mark R., Jaiser, Stephan R., Yu-Wai-Man, Patrick, Farrell, Michael, McCarthy, Allan, Lynch, Timothy, McFarland, Robert, Schaefer, Andrew M., Turnbull, Douglass M., Horvath, Rita, Taylor, Robert W., Chinnery, Patrick F.
Publicado 2014