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Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis.
Balogh E, Chandler JC, Varga M, Tahoun M, Menyhárd DK, Schay G, Goncalves T, Hamar R, Légrádi R, Szekeres Á, Gribouval O, Kleta R, Stanescu H, Bockenhauer D, Kerti A, Williams H, Kinsler V, Di WL, Curtis D, Kolatsi-Joannou M, Hammid H, Szőcs A, Perczel K, Maka E, Toldi G, Sava F, Arrondel C, Kardos M, Fintha A, Hossain A, D'Arco F, Kaliakatsos M, Koeglmeier J, Mifsud W, Moosajee M, Faro A, Jávorszky E, Rudas G, Saied MH, Marzouk S, Kelen K, Götze J, Reusz G, Tulassay T, Dragon F, Mollet G, Motameny S, Thiele H, Dorval G, Nürnberg P, Perczel A, Szabó AJ, Long DA, Tomita K, Antignac C, Waters AM, Tory K. Balogh E, et al. Among authors: perczel k, perczel a. Proc Natl Acad Sci U S A. 2020 Jun 30;117(26):15137-15147. doi: 10.1073/pnas.2002328117. Epub 2020 Jun 17. Proc Natl Acad Sci U S A. 2020. PMID: 32554502 Free PMC article.
Predictable Conformational Diversity in Foldamers of Sugar Amino Acids.
Menyhárd DK, Hudáky I, Jákli I, Juhász G, Perczel A. Menyhárd DK, et al. Among authors: perczel a. J Chem Inf Model. 2017 Apr 24;57(4):757-768. doi: 10.1021/acs.jcim.6b00488. Epub 2017 Apr 11. J Chem Inf Model. 2017. PMID: 28345931 Free article.
C-terminal oligomerization of podocin mediates interallelic interactions.
Stráner P, Balogh E, Schay G, Arrondel C, Mikó Á, L'Auné G, Benmerah A, Perczel A, K Menyhárd D, Antignac C, Mollet G, Tory K. Stráner P, et al. Among authors: perczel a. Biochim Biophys Acta Mol Basis Dis. 2018 Jul;1864(7):2448-2457. doi: 10.1016/j.bbadis.2018.04.008. Epub 2018 Apr 13. Biochim Biophys Acta Mol Basis Dis. 2018. PMID: 29660491 Free article.
The Route from the Folded to the Amyloid State: Exploring the Potential Energy Surface of a Drug-Like Miniprotein.
Taricska N, Horváth D, Menyhárd DK, Ákontz-Kiss H, Noji M, So M, Goto Y, Fujiwara T, Perczel A. Taricska N, et al. Among authors: perczel a. Chemistry. 2020 Feb 11;26(9):1893. doi: 10.1002/chem.201905181. Epub 2020 Jan 21. Chemistry. 2020. PMID: 31961031
Invited for the cover of this issue is the group of Andras Perczel at Eotvos Lorand University, Budapest, Hungary and colleagues from Osaka University, Japan. The image depicts the amyloid buildup of an Exenatide derivate miniprotein (E5) monitored on a simplified h …
Invited for the cover of this issue is the group of Andras Perczel at Eotvos Lorand University, Budapest, Hungary and colleagues from …
173 results