Aortic disease and cardiomyopathy in patients with a novel DNMT3A gene variant causing Tatton-Brown–Rahman syndrome

Autor: Dovile Zebrauskiene, Egle Sadauskiene, Justas Dapkunas, Visvaldas Kairys, Joris Balciunas, Aleksandras Konovalovas, Ruta Masiuliene, Gunda Petraityte, Nomeda Valeviciene, Mindaugas Mataciunas, Jurate Barysiene, Violeta Mikstiene, Migle Tomkuviene, Egle Preiksaitiene

Publikováno v: Clinical Epigenetics, Vol 16, Iss 1, Pp 1-15 (2024)

Abstract Tatton-Brown–Rahman syndrome (TBRS) is a rare congenital genetic disorder caused by autosomal dominant pathogenic variants in the DNA methyltransferase DNMT3A gene. Typical TBRS clinical features are overgrowth, intellectual disability, an

Externí odkaz: https://doaj.org/article/1c9dd59da3c14eceb348640c7603e7f9

DNA Labeling Using DNA Methyltransferases

Autor: Miglė, Tomkuvienė, Edita, Kriukienė, Saulius, Klimašauskas

Publikováno v: Advances in experimental medicine and biology. 1389

DNA methyltransferases (MTases) uniquely combine the ability to recognize and covalently modify specific target sequences in DNA using the ubiquitous cofactor S-adenosyl-L-methionine (AdoMet). Although DNA methylation plays important roles in biologi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::171675c97e1abfbe8a57fe0923e69d83
https://pubmed.ncbi.nlm.nih.gov/36350522

Alleviation of C⋅C Mismatches in DNA by the Escherichia coli Fpg Protein

Autor: Aysha Arshad, Svein Bjelland, Miglė Tomkuvienė, Peter Ruoff, Saulius Klimašauskas, Prashanna Guragain, Arne Klungland, Marina Alexeeva, Almaz Nigatu Tesfahun

Publikováno v: Frontiers in Microbiology
Frontiers in microbiology, Lausanne : Frontiers media SA, 2021, vol. 12, art. no. 608839, p. [1-10]
Frontiers in Microbiology, Vol 12 (2021)

DNA polymerase III mis-insertion may, where not corrected by its 3′→ 5′ exonuclease or the mismatch repair (MMR) function, result in all possible non-cognate base pairs in DNA generating base substitutions. The most thermodynamically unstable b

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a45964d824217fab55e6e2f046b9913c
https://hdl.handle.net/11250/2784159

Archaeal fibrillarin–Nop5 heterodimer 2′-O-methylates RNA independently of the C/D guide RNP particle

Autor: Saulius Klimašauskas, Janina Ličytė, Ingrida Olendraitė, Béatrice Clouet-d’Orval, Zita Liutkevičiūtė, Miglė Tomkuvienė

Publikováno v: RNA. 23:1329-1337

Archaeal fibrillarin (aFib) is a well-characterized S-adenosyl methionine (SAM)-dependent RNA 2′-O-methyltransferase that is known to act in a large C/D ribonucleoprotein (RNP) complex together with Nop5 and L7Ae proteins and a box C/D guide RNA. I

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ddf7c4fb58db9d6c729583ec46bacb78
https://doi.org/10.1261/rna.059832.116

Excision of the doubly methylated base

Autor: Marina, Alexeeva, Prashanna, Guragain, Almaz N, Tesfahun, Miglė, Tomkuvienė, Aysha, Arshad, Rūta, Gerasimaitė, Audronė, Rukšėnaitė, Giedrė, Urbanavičiūtė, Magnar, Bjørås, Jon K, Laerdahl, Arne, Klungland, Saulius, Klimašauskas, Svein, Bjelland

Publikováno v: Philosophical transactions of the Royal Society of London. Series B, Biological sciences. 373(1748)

Cytosine (C) in DNA is often modified to 5-methylcytosine (m(5)C) to execute important cellular functions. Despite the significance of m(5)C for epigenetic regulation in mammals, damage to m(5)C has received little attention. For instance, almost no

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::3c37a3b7691d7208a01f35799a0edc0e
https://pubmed.ncbi.nlm.nih.gov/29685966