Zobrazeno 1 - 10 of 60 pro vyhledávání: '"M 3243a g"'
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Molecular biomarkers correlate with brain grey and white matter changes in patients with mitochondrial m.3243A G mutation
Autor: Caterina Tonon, Claudia Testa, Maria Lucia Valentino, Laura Ludovica Gramegna, Raffaele Lodi, David Neil Manners, Stefania Evangelisti, Rocco Liguori, Claudio Bianchini, Lidia Di Vito, Valerio Carelli, Chiara La Morgia, Lia Talozzi, Micaela Mitolo, Leonardo Caporali, Alessandra Maresca
Publikováno v: Molecular genetics and metabolism. 135(1)
Introduction: The mitochondrial DNA (mtDNA) m.3243A > G mutation in the MT-TL1 gene results in a multi-systemic disease, that is commonly associated with neurodegenerative changes in the brain. Methods: Seventeen patients harboring the m3243A > G mut
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f2384d58282cad26b95c02e907a2d6e
https://pubmed.ncbi.nlm.nih.gov/34916127
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5
Data-Independent Acquisition-Based Quantitative Proteomic Analysis of m.3243A>G MELAS Reveals Novel Potential Pathogenesis and Therapeutic Targets
Autor: Jing Zhang, Wei Zhang, Junhong Guo, Juan Wang, Wenqu Yang, Qiang Shi, Li Yan, Hui Zhang, Xueli Chang, Chuanqiang Pu
Background The pathogenesis of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke like episodes (MELAS) syndrome is not completely understood. The m.3243A > G mutation responsible for 80% MELAS patients affects proteins with undetermi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e3188953ab0ade72be41302e0b81d5d4
https://doi.org/10.21203/rs.3.rs-38357/v1
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7
Stroke-like Episodes in m.3243A≥G Carriers Need to Be Monitored by MRI Starting with the Onset of Clinical Manifestations
Autor: J. Finsterer
Publikováno v: AJNR Am J Neuroradiol
BACKGROUND AND PURPOSE: Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome is a rare mitochondrial disorder affecting children and young adults. Stroke-like episodes are often associated with acute cortical
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32874f2ad5ea1b81ad7d624c26d43d30
https://pubmed.ncbi.nlm.nih.gov/31806591
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8
Lecocytes mutation load declines with age in carriers of the m.3243A>G mutation: A 10-year Prospective Cohort
Autor: Knud Bonnet Yderstræde, Mads Thomassen, Anja Lisbeth Frederiksen, Per Heden Andersen, Morten Duno, John Vissing, Jakob Høgild Langdahl, Martin Jakob Larsen, Morten Frost
Publikováno v: Langdahl, J H, Larsen, M, Frost, M, Andersen, P H, Yderstraede, K B, Vissing, J, Dunø, M, Thomassen, M & Frederiksen, A L 2018, ' Lecocytes mutation load declines with age in carriers of the m.3243A >G mutation : A 10-year Prospective Cohort ', Clinical Genetics, vol. 93, no. 4, pp. 925-928 . https://doi.org/10.1111/cge.13201
Carriers of the mitochondrial mutation m.3243A>G presents highly variable phenotypes including mitochondrial encephalomyopathy, lactoacidosis and stroke-like episodes (MELAS). We conducted a follow-up study to evaluate changes in leucocyte heteroplas
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::922f5232e0e3e5509448c10136fb462a
https://doi.org/10.1111/cge.13201
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