Myoclonus epilepsy and ataxia due toKCNC1mutation: Analysis of 20 cases and K+channel properties

Autor: Frederick Andermann, Zaid Afawi, Krystyna Spodar, Laura Licchetta, Francesca Bisulli, Rachel Straussberg, Laura Canafoglia, Snezana Maljevic, Bernt A. Engelsen, Silvana Franceschetti, Simone Mandelstam, Samuel F. Berkovic, Rikke S. Møller, Annette Wulf, Eva Andermann, João Massano, Francesca Ragona, Elena Gardella, Carlo Di Bonaventura, Steven Petrou, Patrizia Riguzzi, Guido Rubboli, Carol J. Milligan, Anna-Elina Lehesjoki, Karen Oliver, Ferruccio Panzica, Elena Pasini, Amos D. Korczyn, Mikko Muona, Roberto Michelucci, Daniel Friedman, Anna M. Boguszewska-Chachulska, Holger Lerche, Matthias Lindenau, Felix Benninger, Christopher A. Reid, Bruria Ben-Zeev, Paolo Tinuper, Arielle Crespel, Anetta Lasek-Bal

Publikováno v: Oliver, K L, Franceschetti, S, Milligan, C J, Muona, M, Mandelstam, S A, Canafoglia, L, Boguszewska-Chachulska, A M, Korczyn, A D, Bisulli, F, Di Bonaventura, C, Ragona, F, Michelucci, R, Ben-Zeev, B, Straussberg, R, Panzica, F, Massano, J, Friedman, D, Crespel, A, Engelsen, B A, Andermann, F, Andermann, E, Spodar, K, Lasek-Bal, A, Riguzzi, P, Pasini, E, Tinuper, P, Licchetta, L, Gardella, E, Lindenau, M, Wulf, A, Møller, R S, Benninger, F, Afawi, Z, Rubboli, G, Reid, C A, Maljevic, S, Lerche, H, Lehesjoki, A-E, Petrou, S & Berkovic, S F 2017, ' Myoclonus epilepsy and ataxia due to KCNC1 mutation : Analysis of 20 cases and K(+) channel properties ', Annals of Neurology, vol. 81, no. 5, pp. 677-689 . https://doi.org/10.1002/ana.24929

OBJECTIVE: To comprehensively describe the new syndrome of myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK), including cellular electrophysiological characterization of observed clinical improvement with fever.METHODS: We analyz

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e24095de7d217867a83d748eead4731
https://doi.org/10.1002/ana.24929

Studies on the anti-hepatitis C virus activity of newly synthesized tropolone derivatives: Identification of NS3 helicase inhibitors that specifically inhibit subgenomic HCV replication

Autor: Anna M. Boguszewska-Chachulska, Mariusz Krawczyk, Maria Bretner, Anna Stankiewicz-Drogoń, Andzelika Najda-Bernatowicz

Publikováno v: Bioorganic & Medicinal Chemistry. 18:5129-5136

We synthesized new tropolone derivatives substituted with cyclic amines: piperidine, piperazine or pyrrolidine. The most active anti-helicase compound (IC50=3.4 microM), 3,5,7-tri[(4'-methylpiperazin-1'-yl)methyl]tropolone (2), inhibited RNA replicat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf0240b724a2175c2763903f7ddcfc71
https://doi.org/10.1016/j.bmc.2010.05.066

New acridone-4-carboxylic acid derivatives as potential inhibitors of Hepatitis C virus infection

Autor: Anna Stankiewicz-Drogoń, Larisa G. Palchykovska, Anna M. Boguszewska-Chachulska, V. G. Kostina, I. V. Alexeeva, A. D. Shved

Publikováno v: Bioorganic & Medicinal Chemistry. 16:8846-8852

A new class of compounds—acridone derivatives—was tested using the direct fluorometric helicase activity assay to determine the inhibitory properties of the derivatives towards the NS3 helicase of Hepatitis C virus (HCV). The compounds were also

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15fa2bcf2a33fd1cc58c7f7a17afed3b
https://doi.org/10.1016/j.bmc.2008.08.074

Synthesis of new acridone derivatives, inhibitors of NS3 helicase, which efficiently and specifically inhibit subgenomic HCV replication

Autor: Thomas Erker, Bernd Dörner, Anna M. Boguszewska-Chachulska, Anna Stankiewicz-Drogoń

Publikováno v: Journal of medicinal chemistry. 53(8)

A new goup of acridone derivatives, obtained by reaction of acridone-4-carboxylic acid derivatives with aromatic amines, was tested to determine the inhibitory properties toward the NS3 helicase of hepatitis C virus (HCV). Six compounds inhibited the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::520c7081645be09701c13ac1554f602a
https://pubmed.ncbi.nlm.nih.gov/20337460

NS3 Peptide, a novel potent hepatitis C virus NS3 helicase inhibitor: its mechanism of action and antiviral activity in the replicon system

Autor: Włodzimierz Zagórski-Ostoja, Jarosław Poznański, Agnieszka Gozdek, Jerzy M. Pawlowicz, Anna Stankiewicz-Drogoń, Anna M. Boguszewska-Chachulska, Igor Zhukov, Peter Borowski, Agnieszka Polkowska

Publikováno v: Antimicrobial agents and chemotherapy. 52(2)

Hepatitis C virus (HCV) chronic infections represent one of the major and still unresolved health problems because of low efficiency and high cost of current therapy. Therefore, our studies centered on a viral protein, the NS3 helicase, whose activit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a22699914f05ef95a1e22854b27b275
https://pubmed.ncbi.nlm.nih.gov/18039921