Search Results - "SITARZ, Kamil S"

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

“…OBJECTIVE:To investigate mitophagy in 5 patients with severe dominantly inherited optic atrophy (DOA), caused by depletion of OPA1 (a protein that is essential…”
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Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts by Sitarz, Kamil S., Elliott, Hannah R., Karaman, Betül S., Relton, Caroline, Chinnery, Patrick F., Horvath, Rita

“…Valproic acid (VPA) is a widely used antiepileptic drug and also prescribed to treat migraine, chronic headache and bipolar disorder. Although it is usually…”
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OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules by Yu-Wai-Man, Patrick, Sitarz, Kamil S., Samuels, David C., Griffiths, Philip G., Reeve, Amy K., Bindoff, Laurence A., Horvath, Rita, Chinnery, Patrick F.

“…Pathogenic OPA1 mutations cause autosomal dominant optic atrophy (DOA), a condition characterized by the preferential loss of retinal ganglion cells and…”
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MFN2 mutations cause compensatory mitochondrial DNA proliferation by Sitarz, Kamil S, Yu-Wai-Man, Patrick, Pyle, Angela, Stewart, Joanna D, Rautenstrauss, Bernd, Seeman, Pavel, Reilly, Mary M, Horvath, Rita, Chinnery, Patrick F

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Disorders of the Optic Nerve in Mitochondrial Cytopathies: New Ideas on Pathogenesis and Therapeutic Targets by Sitarz, Kamil S., Chinnery, Patrick F., Yu-Wai-Man, Patrick

“…Mitochondrial cytopathies are a heterogeneous group of human disorders triggered by disturbed mitochondrial function. This can be due to primary mitochondrial…”
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OPA1 MUTATIONS INDUCE mtDNA PROLIFERATION IN LEUKOCYTES OF PATIENTS WITH DOMINANT OPTIC ATROPHY by SITARZ, Kamil S, ALMIND, Gitte J, HORVATH, Rita, CZERMIN, Birgit, GRØNSKOV, Karen, PYLE, Angela, TAYLOR, Robert W, LARSEN, Michael, CHINNERY, Patrick F, YU-WAI-MAN, Patrick

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POLG mutations cause decreased mitochondrial DNA repopulation rates following induced depletion in human fibroblasts by Stewart, Joanna D., Schoeler, Susanne, Sitarz, Kamil S., Horvath, Rita, Hallmann, Kerstin, Pyle, Angela, Yu-Wai-Man, Patrick, Taylor, Robert W., Samuels, David C., Kunz, Wolfram S., Chinnery, Patrick F.

“…Disorders of mitochondrial DNA (mtDNA) maintenance have emerged as an important cause of human genetic disease, but demonstrating the functional consequences…”
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Genetic variations within the OPA1 gene are not associated with neuromyelitis optica by Sitarz, Kamil S, Yu-Wai-Man, Patrick, Hudson, Gavin, Jacob, Anu, Boggild, Mike, Horvath, Rita, Chinnery, Patrick F

“…Neuromyelitis optica (NMO) is an idiopathic demyelinating disease which predominantly affects the optic nerve and spinal cord. Multiplex NMO pedigrees have…”
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Redefining Wolfram syndrome in the molecular Era by Guthrie, Grant, Sitarz, Kamil S., Pyle, Angela, Horvath, Rita, Griffiths, Philip G., Chinnery, Patrick F., Yu-Wai-Man, Patrick

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Genetic variations within the OPAI gene are not associated with neuromyelitis optica by SITARZ, Kamil S, YU-WAI-MAN, Patrick, HUDSON, Gavin, JACOB, Anu, BOGGILD, Mike, HORVATH, Rita, CHINNERY, Patrick F

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