Výsledky vyhledávání - "Kamil S. Sitarz"

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

Autor: Patrick Yu-Wai-Man, Kamil S. Sitarz, Patrick F. Chinnery

Publikováno v: Current Neurology and Neuroscience Reports

Mitochondrial cytopathies are a heterogeneous group of human disorders triggered by disturbed mitochondrial function. This can be due to primary mitochondrial DNA mutations or nuclear defects affecting key components of the mitochondrial machinery. O

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3807d25c7151049a51173543735c9c0
https://doi.org/10.1007/s11910-012-0260-0

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Genetic variations within the OPA1 gene are not associated with neuromyelitis optica

Autor: Rita Horvath, Gavin Hudson, Patrick Yu-Wai-Man, Patrick F. Chinnery, Anu Jacob, Mike Boggild, Kamil S. Sitarz

Publikováno v: Multiple Sclerosis Journal. 18:240-243

Neuromyelitis optica (NMO) is an idiopathic demyelinating disease which predominantly affects the optic nerve and spinal cord. Multiplex NMO pedigrees have been reported but the genetic risk factors conferring this increased familial susceptibility h

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c97872c2a8278c05c4a8aa487cbb6c8
https://doi.org/10.1177/1352458511416838

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

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

Publikováno v: Human Molecular Genetics

Pathogenic OPA1 mutations cause autosomal dominant optic atrophy (DOA), a condition characterized by the preferential loss of retinal ganglion cells and progressive optic nerve degeneration. Approximately 20% of affected patients will also develop mo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f7d3883998825cb6e3c4c6cc5dd4f9e
https://doi.org/10.1093/hmg/ddq209

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Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28

Autor: Jessica Gabriel, Douglass M. Turnbull, Marzena Kurzawa-Akanbi, Grainne S. Gorman, Andrew M. Schaefer, Benedikt Schoser, Angela Pyle, Rita Horvath, Emma L. Blakely, Patrick F. Chinnery, Robert McFarland, Robert W. Taylor, Gerald Pfeffer, Mark Roberts, Helen Griffin, Kamil S. Sitarz

Publikováno v: JAMA neurology. 72(1)

Importance Progressive external ophthalmoplegia (PEO) is a common feature in adults with mitochondrial (mt) DNA maintenance disorders associated with somatic mtDNA deletions in muscle, yet the causal genetic defect in many patients remains undetermin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87df98f3780b8f6f6dc74acb5a2602e3
https://pubmed.ncbi.nlm.nih.gov/25420100

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Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts

Autor: Kamil S, Sitarz, Hannah R, Elliott, Betül S, Karaman, Caroline, Relton, Patrick F, Chinnery, Rita, Horvath

Publikováno v: Molecular Genetics and Metabolism

Valproic acid (VPA) is a widely used antiepileptic drug and also prescribed to treat migraine, chronic headache and bipolar disorder. Although it is usually well tolerated, a severe hepatotoxic reaction has been repeatedly reported after VPA administ

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::6dbcdf0cea4ae24523a571a0f89becf8
https://pubmed.ncbi.nlm.nih.gov/24725338

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OPA1 mutations induce mtDNA proliferation in leukocytes of patients with dominant optic atrophy

Autor: Michael Larsen, Gitte J Almind, Robert W. Taylor, Patrick Yu-Wai-Man, Patrick F. Chinnery, Karen Grønskov, Kamil S. Sitarz, Rita Horvath, Birgit Czermin, Angela Pyle

Publikováno v: Neurology. 79(14)

OPA1 mutations cause autosomal dominant optic atrophy (DOA), a debilitating mitochondrial optic neuropathy characterized by irreversible loss of retinal ganglion cells (RGCs) and progressive visual failure starting in early childhood.1 Interestingly,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4dca1fbd6c1f033d5cc66a20b298971d
https://pubmed.ncbi.nlm.nih.gov/22993284

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MFN2 mutations cause compensatory mitochondrial DNA proliferation

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

Publikováno v: Brain

ARTICLE Sir, We read with great interest the report of a Tunisian family by Rouzier et al . (2011) describing the neurological disorder linked to a novel heterozygous missense mutation in MFN2 (1p36.2) (Rouzier et al ., 2011). MFN2 mutations typicall

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::241f106e2171d13ee86f47d17ba9d74f
https://pubmed.ncbi.nlm.nih.gov/22189565

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POLG mutations cause decreased mitochondrial DNA repopulation rates following induced depletion in human fibroblasts

Autor: Patrick Yu-Wai-Man, Wolfram S. Kunz, David C. Samuels, Rita Horvath, Patrick F. Chinnery, Joanna Stewart, Kerstin Hallmann, Susanne Schoeler, Robert W. Taylor, Kamil S. Sitarz, Angela Pyle

Publikováno v: Biochimica et biophysica acta. 1812(3)

Disorders of mitochondrial DNA (mtDNA) maintenance have emerged as an important cause of human genetic disease, but demonstrating the functional consequences of de novo mutations remains a major challenge. We studied the rate of depletion and repopul

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a5474e157410b93cb84b3f4552b4032
https://pubmed.ncbi.nlm.nih.gov/21138766

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