TY - THES AU - Gráf, Alexandra TI - BRCA1/2 patogén és ismeretlen klinikai szignifikanciájú variánsok azonosítása és vizsgálati lehetőségei PB - Szegedi Tudományegyetem PY - 2022 SP - 81 DO - 10.14232/phd.11427 UR - https://m2.mtmt.hu/api/publication/34109013 ID - 34109013 LA - Hungarian DB - MTMT ER - TY - JOUR AU - Qorri, Erda AU - Takács, Bertalan Vilmos AU - Gráf, Alexandra AU - Enyedi, Márton Zsolt AU - Pintér, Lajos AU - Kiss, Ernő AU - Haracska, Lajos TI - A Comprehensive Evaluation of the Performance of Prediction Algorithms on Clinically Relevant Missense Variants JF - INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES J2 - INT J MOL SCI VL - 23 PY - 2022 IS - 14 SN - 1661-6596 DO - 10.3390/ijms23147946 UR - https://m2.mtmt.hu/api/publication/33029933 ID - 33029933 N1 - Funding Agency and Grant Number: European Union [739593]; National Research, Development, and Innovation Office [TKP2021-EGA-09, RRF-2.3.1-21-2022-00015] Funding text: This project received funding from the European Union's Horizon 2020 research and innovation program under grant agreement No. 739593. This work was also supported by the National Research, Development, and Innovation Office (TKP2021-EGA-09 and RRF-2.3.1-21-2022-00015). LA - English DB - MTMT ER - TY - JOUR AU - Tóth, Róbert AU - Balogh, Dávid AU - Pintér, Lajos AU - Jaksa, G. AU - Szeplaki, B. AU - Gráf, Alexandra AU - Győrfy, Zsuzsanna AU - Enyedi, Márton Zsolt AU - Kiss, Ernő AU - Haracska, Lajos AU - Unk, Ildikó TI - The Rad5 Helicase and RING Domains Contribute to Genome Stability through their Independent Catalytic Activities JF - JOURNAL OF MOLECULAR BIOLOGY J2 - J MOL BIOL VL - 434 PY - 2022 IS - 5 SN - 0022-2836 DO - 10.1016/j.jmb.2021.167437 UR - https://m2.mtmt.hu/api/publication/32606165 ID - 32606165 N1 - DNA Repair Research Group, Institute of Genetics, Biological Research Centre, Szeged, Eotvos Loránd Research Network, Szeged, H-6726, Hungary University of Szeged, Doctoral School of Biology, Hungary HCEMM-BRC Mutagenesis and Carcinogenesis Research Group, Institute of Genetics, Biological Research Centre, Szeged, Eotvos Loránd Research Network, Szeged, H-6726, Hungary Delta Bio 2000 Ltd., Szeged, H-6726, Hungary Export Date: 21 January 2022 CODEN: JMOBA Correspondence Address: Unk, I.; Biological Research Centre, Temesvari krt. 62., Hungary; email: unk.ildiko@brc.hu AB - Genomic stability is compromised by DNA damage that obstructs replication. Rad5 plays a prominent role in DNA damage bypass processes that evolved to ensure the continuation of stalled replication. Like its human orthologs, the HLTF and SHPRH tumor suppressors, yeast Rad5 has a RING domain that supports ubiquitin ligase activity promoting PCNA polyubiquitylation and a helicase domain that in the case of HLTF and Rad5 was shown to exhibit an ATPase-linked replication fork reversal activity. The RING domain is embedded in the helicase domain, confusing their separate investigation and the understanding of the exact role of Rad5 in DNA damage bypass. Particularly, it is still debated whether the helicase domain plays a catalytic or a non-enzymatic role during error-free damage bypass and whether it facilitates a function separately from the RING domain. In this study, through in vivo and in vitro characterization of domain-specific mutants, we delineate the contributions of the two domains to Rad5 function. Yeast genetic experiments and whole-genome sequencing complemented with biochemical assays demonstrate that the ubiquitin ligase and the ATPase-linked activities of Rad5 exhibit independent catalytic activities in facilitating separate pathways during error-free lesion bypass. Our results also provide important insights into the mutagenic role of Rad5 and indicate its tripartite contribution to DNA damage tolerance. © 2021 The Author(s) LA - English DB - MTMT ER - TY - GEN AU - Gráf, Alexandra AU - Enyedi, Márton Zsolt AU - Szabó-Kriston, Éva AU - Jaksa, Gábor AU - Pintér, Lajos AU - Sükösd, Farkas AU - Ezer, Éva AU - Bálind, Árpád AU - Horváth, Péter AU - Kiss, Ernő AU - Haracska, Lajos TI - Egysejt szekvenálással a BRCA2 mozaicizmus és a tumorigenezis molekuláris hátterének nyomában PY - 2021 UR - https://m2.mtmt.hu/api/publication/32936853 ID - 32936853 LA - Hungarian DB - MTMT ER - TY - JOUR AU - Gráf, Alexandra AU - Enyedi, Márton Zsolt AU - Pinter, Lajos AU - Kriston-Pal, Eva AU - Jaksa, Gabor AU - Bálind, Árpád AU - Ezer, Eva AU - Horváth, Péter AU - Sükösd, Farkas AU - Kiss, Ernő AU - Haracska, Lajos TI - The Combination of Single-Cell and Next-Generation Sequencing Can Reveal Mosaicism for BRCA2 Mutations and the Fine Molecular Details of Tumorigenesis JF - CANCERS J2 - CANCERS VL - 13 PY - 2021 IS - 10 PG - 15 SN - 2072-6694 DO - 10.3390/cancers13102354 UR - https://m2.mtmt.hu/api/publication/32058695 ID - 32058695 N1 - HCEMM-BRC Mutagenesis and Carcinogenesis Research Group, Institute of Genetics, Biological Research Centre, Szeged, 6726, Hungary Delta Bio 2000 Ltd, Szeged, 6726, Hungary Lendület Laboratory of Microscopic Image Analysis and Machine Learning, Institute of Biochemistry, Biological Research Centre, Szeged, 6726, Hungary Department of Clinical Oncology, Teaching Hospital Mór Kaposi, Kaposvár, 7400, Hungary Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, 00014, Finland Department of Pathology, Faculty of Medicine, University of Szeged, Szeged, 6720, Hungary Export Date: 31 August 2021 Correspondence Address: Haracska, L.; HCEMM-BRC Mutagenesis and Carcinogenesis Research Group, Hungary; email: haracska.lajos@brc.hu LA - English DB - MTMT ER - TY - GEN AU - Gráf, Alexandra AU - Róbert, Tóth AU - Márton, Enyedi AU - Bence, Széplaki AU - Gábor, Jaksa AU - Lajos, Pintér AU - Ernő, Kiss AU - Lajos, Haracska TI - Single yeast colony mutagenesis screen and mutagenic signature analysis based on next-generation sequencing CY - poszter PY - 2019 UR - https://m2.mtmt.hu/api/publication/32936930 ID - 32936930 LA - English DB - MTMT ER - TY - GEN AU - Gráf, Alexandra AU - Kovács, Mária AU - Bálind, Árpád AU - Gyuris, Zoltán AU - Pintér, Lajos AU - Kiss, Ernő AU - Horváth, Péter AU - Haracska, Lajos: TI - Tumorevolució vizsgálata egysejt-analízissel CY - poszter PY - 2018 UR - https://m2.mtmt.hu/api/publication/32937011 ID - 32937011 LA - Hungarian DB - MTMT ER - TY - CONF AU - Gráf, Alexandra AU - Róbert, Tóth AU - Márton, Enyedi AU - Bence, Széplaki AU - Gábor, Jaksa AU - Zoltán, Gyuris AU - Lajos, Pintér AU - Ernő, Kiss AU - Lajos, Haracska TI - Single yeast colony mutagenesis screen based on next-generation sequencing T2 - Straub-Napok PY - 2018 SP - 15 UR - https://m2.mtmt.hu/api/publication/32936949 ID - 32936949 LA - English DB - MTMT ER - TY - GEN AU - Gráf, Alexandra AU - Enyedi, Márton Zsolt AU - Tóth, Róbert AU - Pintér, Lajos AU - Jaksa, Gábor AU - Kovács, Mária AU - Bálind, Árpád AU - Horváth, Péter AU - Kiss, Ernő AU - Haracska, Lajos TI - Egy sejt, egy kolónia-miért jó, ha kevés a kiindulási anyag? CY - konferencia előadás PY - 2018 UR - https://m2.mtmt.hu/api/publication/32936866 ID - 32936866 LA - Hungarian DB - MTMT ER - TY - JOUR AU - Farkas, Zsolt AU - Fancsalszky, Luca AU - Saskői, Éva AU - Gráf, Alexandra AU - Tárnok, Krisztián AU - Mehta, A AU - Vellainé Takács, Krisztina TI - The dosage-dependent effect exerted by the NM23-H1/H2 homolog NDK-1 on distal tip cell migration in C. elegans JF - LABORATORY INVESTIGATION J2 - LAB INVEST VL - 98 PY - 2018 IS - 2 SP - 182 EP - 189 PG - 8 SN - 0023-6837 DO - 10.1038/labinvest.2017.99 UR - https://m2.mtmt.hu/api/publication/3343343 ID - 3343343 N1 - Department of Biological Anthropology, ELTE Eötvös Loránd University, Budapest, Hungary Department of Genetics, ELTE Eötvös Loránd University, Budapest, Hungary Department of Physiology and Neurobiology, ELTE Eötvös Loránd University, Budapest, Hungary MTA-ELTE NAP B Neuronal Cell Biology Research Group, Department of Physiology and Neurobiology, ELTE Eötvös Loránd University, Budapest, Hungary Division of Medical Sciences, Ninewells Hospital Medical School, Dundee, United Kingdom Cited By :2 Export Date: 9 November 2019 CODEN: LAINA Correspondence Address: Takács-Vellai, K.; Department of Biological Anthropology, ELTE Eötvös Loránd UniversityHungary; email: takacsve@gmail.com AB - Abnormal regulation of cell migration and altered rearrangement of the cytoskeleton are fundamental properties of metastatic cells. The first identified metastasis suppressor NM23-H1, which displays nucleoside-diphosphate kinase (NDPK) activity is involved in these processes. NM23-H1 inhibits the migratory and invasive potential of some cancer cells. Correspondingly, numerous invasive cancer cell lines (eg, breast, colon, oral, hepatocellular carcinoma, and melanoma) display low endogenous NM23 levels. In this review, we summarize mechanisms, which are linked to the anti-metastatic activity of NM23. In human cancer cell lines NM23-H1 was shown to regulate cytoskeleton dynamics through inactivation of Rho/Rac-type GTPases. The Drosophila melanogaster NM23 homolog abnormal wing disc (AWD) controls tracheal and border cell migration. The molecular function of AWD is well characterized in both processes as a GTP supplier of Shi/Dynamin whereby AWD regulates the level of chemotactic receptors on the surface of migrating cells through receptor internalization, by its endocytic function. Our group studied the role of the sole group I NDPK, NDK-1 in distal tip cell (DTC) migration in Caenorhabditis elegans. In the absence of NDK-1 the migration of DTCs is incomplete. A half dosage of NDPK as present in ndk-1 (+/-) heterozygotes results in extra turns and overshoots of migrating gonad arms. Conversely, an elevated NDPK level also leads to incomplete gonadal migration owing to a premature stop of DTCs in the third phase of migration, where NDK-1 acts. We propose that NDK-1 exerts a dosage-dependent effect on the migration of DTCs. Our data derived from DTC migration in C. elegans is consistent with data on AWD's function in Drosophila. The combined data suggest that NDPK enzymes control the availability of surface receptors to regulate cell-sensing cues during cell migration. The dosage of NDPKs may be a coupling factor in cell migration by modulating the efficiency of receptor recycling. © 2018 USCAP, Inc All rights reserved. LA - English DB - MTMT ER -