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001-es BibID:	BIBFORM095264
035-os BibID:	(scopus)85107216771 (wos)000655485500001
Első szerző:	Bene Zsolt (orvos)
Cím:	Enhanced Expression of Human Epididymis Protein 4 (HE4) Reflecting Pro-Inflammatory Status Is Regulated by CFTR in Cystic Fibrosis Bronchial Epithelial Cells / Zsolt Bene, Zsolt Fejes, Tibor Gabor Szanto, Ferenc Fenyvesi, Judit Váradi, Luka A. Clarke, Gyorgy Panyi, Milan Macek Jr., Margarida D. Amaral, István Balogh, Béla Nagy Jr.
Dátum:	2021
ISSN:	1663-9812
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban folyóiratcikk
Megjelenés:	Frontiers in Pharmacology. - 12 (2021), p. 1-16. -
További szerzők:	Fejes Zsolt (1988-) (molekuláris biológus) Szántó Gábor Tibor (1980-) (vegyész) Fenyvesi Ferenc (1977-) (gyógyszerész, gyógyszertechnológus) Váradi Judit (1973-) (gyógyszerész, gyógyszertechnológus) Clarke, Luka A. Panyi György (1966-) (biofizikus) Macek Jr., Milan Amaral, Margarida D. Balogh István (1972-) (molekuláris biológus, genetikus) Nagy Béla Jr. (1980-) (labordiagnosztikai szakorvos)
Pályázati támogatás:	OTKA FK 135327 OTKA GINOP-2.3.2-15-2016-00043 GINOP
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001-es BibID:	BIBFORM135612
Első szerző:	Gaál Szabolcs Máté (kardiológus)
Cím:	Characterization of the R893C NaV1.5 mutation in Brugada syndrome / Szabolcs Gaal, Beata Meszaros, Julianna Volko, Noemi Bilakovics, Muhammad Umair Naseem, Zoltán Pethő, Gabor Sandorfi, Gabor Menko, Orsolya Voros, Istvan Balogh, Gyorgy Panyi, Zoltan Csanadi, Tibor G. Szanto
Dátum:	2026
ISSN:	2297-055X
Megjegyzések:	Brugada syndrome (BrS) is a genetically determined cardiac arrhythmogenic syndrome with increased risk of sudden cardiac death. BrS is mostly caused by mutations in SCN5A gene encoding the primary ?-subunit of the cardiac sodium channel NaV1.5. We aimed at characterizing the functional alterations caused by the R893C mutation, identified in a proband diagnosed with BrS, and establishing whether the mutation is associated with BrS. Although several mutations have been reported in the close vicinity of R893, the functional role of this region remains unknown and, in addition, exploring SCN5A mutations in patients with inherited arrhythmogenic syndromes is critical for understanding the pathogenesis of arrhythmias. The mutations were introduced by site-directed mutagenesis. The variants were transiently expressed in CHO cells and potassium currents were measured using the whole-cell patch clamp technique. Patch clamp recordings have demonstrated that R893C almost completely abolished the sodium current, INa, though the mutation did not exert dominant-negative effect on wild-type NaV1.5 channels. We also observed significant decrease in channel activation and a depolarized shift of steady?state inactivation curve, however, the kinetics of inactivation and recovery from fast inactivation were not changed by the mutation. Moreover, the reducing agent Dithiotreitol partially restored the normal function of NaV1.5 in the R893C mutant highlighting a likely mechanism for loss of conduction via formation of disulphide bridges. We showed that R893H channels also failed to produce any detectable INa that confirms the importance of the highly conserved R893 in gating. Our study reveals R893C is a loss-of-function mutation with altered electrophysiological characteristics of NaV1.5. Thus, R893C may contribute to the BrS phenotype of the proband. Our findings may facilitate the understanding of the mechanisms of arrhythmogenesis in BrS, as it helps to identify mutational hotspots in BrS. Moreover, our work may improve novel gene therapy and new therapeutic drug design targeting NaV1.5 channelopathies.
Tárgyszavak:	Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban folyóiratcikk Brugada syndrome, NaV1.5
Megjelenés:	Frontiers in Cardiovascular Medicine. - 13 (2026), p. 1-18. -
További szerzők:	Mészáros Beáta (1985-) (molekuláris biológus, mikrobiológus) Volkó Julianna (1983-) (biotechnológus) Bilakovics Noémi (1999-) (biomérnök) Naseem, Muhammad Umair (1993-) (biofizikus, molekuláris biológus) Pethő Zoltán (1989-) (orvos) Sándorfi Gábor (1976-) (belgyógyász, kardiológus) Menkó Gábor Vörös Orsolya (1989-) (biotechnológus) Balogh István (1972-) (molekuláris biológus, genetikus) Panyi György (1966-) (biofizikus) Csanádi Zoltán (1960-) (kardiológus) Szántó György Tibor (1952-)
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001-es BibID:	BIBFORM134812
035-os BibID:	(scopus)105016268170 (wos)001571366900001
Első szerző:	Pócsi Marianna (klinikai laboratóriumi kutató)
Cím:	Comparison of the Effect of CFTR Modulators elexacaftor/tezacaftor/ivacaftor and lumacaftor/ivacaftor via Serum Human Epididymis Protein 4 Concentration in p.Phe508del-CFTR Homozygous Cystic Fibrosis Patients / Pócsi Marianna, Fila Libor, Péterfia Csaba, Halász Adrien, Szanto Tibor G., Mészáros Beáta, Major Judit, Laki István, Szabó Hajnalka, Panyi György, Balogh István, Amaral Margarida D., Macek Jr. Milan, Nagy Jr. Béla
Dátum:	2025
ISSN:	2077-0383
Megjegyzések:	Elevated human epididymis protein 4 (HE4) levels decreased in patients with CF (pwCF) in response to CFTR-specific drugs and negatively correlated with FEV1% predicted values (ppFEV1). Objectives: Although elexacaftor/tezacaftor/ivacaftor (ETI, Kaftrio?) demonstrates more substantial effectiveness than lumacaftor/ivacaftor (LUM/IVA, Orkambi?) in pwCF, plasma biomarkers have not been used to compare treatment efficacy. Hence, our aim was to correlate the change in HE4 levels and the clinical effects of these CFTR modulators (CFTRm). Methods: Serum HE4 concentrations were measured in a total of 123 pwCF homozygous for the p.Phe508del-CFTR variant before treatment and 1?6 months after either ETI or LUM/IVA administration. A correlation between serum HE4 and ppFEV1 was assessed using the Spearman test. HE4 protein levels were also analyzed in the supernatants of p.Phe508del-CFTR CFBE 41o- cells before and after treatment with these CFTRm, and their direct effect on CFTR function was monitored by the whole-cell patch-clamp technique. Results: Serum HE4 levels were reduced below baseline after 3 months of either ETI or LUM/IVA (mean delta HE4: ?38.5 vs. ?18.5 pmol/L, respectively) when the mean change of ppFEV1 was 13.6 vs. 1.6% and remained decreased up to 6 months. A significant inverse correlation between HE4 and ppFEV1 was observed in both study cohorts (r = ?0.537 and r = ?0.575, respectively; p < 0.0001). In agreement with ex vivo results, the effect on p.Phe508del-CFTR was more pronounced by ETI than LUM/IVA in CFBE cells, showing a larger improvement in p.Phe508del-CFTR function and reductions in HE4 levels at 24 h. Conclusions: Serum HE4 negatively correlates with lung function improvement and monitors better drug efficacy in pwCF under ETI than LUM/IVA.
Tárgyszavak:	Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban folyóiratcikk cystic fibrosis HE4 CFTR modulator ppFEV1 biomarker treatment efficacy
Megjelenés:	Journal of Clinical Medicine. - 14 : 17 (2025), p. 1-18. -
További szerzők:	Fila, Libor Péterfia Csaba Halász Adrienn Szántó Gábor Tibor (1980-) (vegyész) Mészáros Beáta (1985-) (molekuláris biológus, mikrobiológus) Major Judit Laki István Szabó Hajnalka Panyi György (1966-) (biofizikus) Balogh István (1972-) (molekuláris biológus, genetikus) Amaral, Margarida D. Macek Jr., Milan Nagy Béla Jr. (1980-) (labordiagnosztikai szakorvos)
Pályázati támogatás:	FK 135327 OTKA UID/04046/2025 Egyéb 00064203/6003 Egyéb
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