CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder
Wortmann, Saskia B., Ziętkiewicz, Szymon, Kousi, Maria, Szklarczyk, Radek, Haack, Tobias B., Gersting, Søren W., Muntau, Ania C., Rakovic, Aleksandar, Renkema, G. Herma, Rodenburg, Richard J., Strom, Tim M., Meitinger, Thomas, Rubio-Gozalbo, M. Estela, Chrusciel, Elzbieta, Distelmaier, Felix, Golzio, Christelle, Jansen, Joop H., van Karnebeek, Clara, Lillquist, Yolanda, Lücke, Thomas, Õunap, Katrin, Zordania, Riina, Yaplito-Lee, Joy, van Bokhoven, Hans, Spelbrink, Johannes N., Vaz, Frédéric M., Pras-Raves, Mia, Ploski, Rafal, Pronicka, Ewa, Klein, Christine, Willemsen, Michel A.A.P., de Brouwer, Arjan P.M., Prokisch, Holger, Katsanis, Nicholas, Wevers, Ron A.
Published in American journal of human genetics (05.02.2015)
Published in American journal of human genetics (05.02.2015)
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Journal Article
CLPB (caseinolytic peptidase B homolog), the first mitochondrial protein refoldase associated with human disease
Mróz, Dagmara, Wyszkowski, Hubert, Szablewski, Tomasz, Zawieracz, Katarzyna, Dutkiewicz, Rafał, Bury, Katarzyna, Wortmann, Saskia B., Wevers, Ron A., Ziętkiewicz, Szymon
Published in Biochimica et biophysica acta. General subjects (01.04.2020)
Published in Biochimica et biophysica acta. General subjects (01.04.2020)
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Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy
Drovandi, Stefania, Lipska-Ziętkiewicz, Beata S., Ozaltin, Fatih, Emma, Francesco, Gulhan, Bora, Boyer, Olivia, Trautmann, Agnes, Ziętkiewicz, Szymon, Xu, Hong, Shen, Qian, Rao, Jia, Riedhammer, Korbinian M., Heemann, Uwe, Hoefele, Julia, Stenton, Sarah L., Tsygin, Alexey N., Ng, Kar-Hui, Fomina, Svitlana, Benetti, Elisa, Aurelle, Manon, Prikhodina, Larisa, Schijvens, Anne M., Tabatabaeifar, Mansoureh, Jankowski, Maciej, Baiko, Sergey, Mao, Jianhua, Feng, Chunyue, Deng, Fang, Rousset-Rouviere, Caroline, Stańczyk, Małgorzata, Bałasz-Chmielewska, Irena, Fila, Marc, Durkan, Anne M., Levart, Tanja Kersnik, Dursun, Ismail, Esfandiar, Nasrin, Haas, Dorothea, Bjerre, Anna, Anarat, Ali, Benz, Marcus R., Talebi, Saeed, Hooman, Nakysa, Ariceta, Gema, Baiko, Sergey, Serna Higuita, Lina Maria, Schaefer, Franz, Trautmann, Agnes, Tabatabaeifar, Mansoureh, Gheissari, Alaleh, Hooman, Nakysa, Benetti, Elisa, Emma, Francesco, Nigmatullina, Nazym, Lipska-Ziętkiewicz, Beata S., Bałasz-Chmielewska, Irena, Tkaczyk, Marcin, Stańczyk, Małgorzata, Borzecka, Halina, Tsygin, Alexey N., Prikhodina, Larisa, Bogdanovic, Radovan, Anarat, Ali, Ozaltin, Fatih, Mir, Sevgi, Fomina, Svitlana, Klopstock, Thomas, Prokisch, Holger, Kornblum, Cornelia, Xu, Hong, Shen, Qian, Rao, Jia, Liu, Cui-Hua, Sun, Shu-Zhen, Deng, Fang, Dong, Yang, Wang, Xiao-Wen, Luan, Jiang-Wei, Schaefer, Franz
Published in Kidney international (01.09.2022)
Published in Kidney international (01.09.2022)
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Expression, purification, and efficient refolding of the extracellular domain of Escherichia coli-expressed signaling receptor herpesvirus entry mediator
Szymczak, Marta, Ziętkiewicz, Szymon, Kuncewicz, Katarzyna, Rodziewicz-Motowidło, Sylwia, Orlikowska, Marta
Published in Protein expression and purification (01.12.2019)
Published in Protein expression and purification (01.12.2019)
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Chaperones in control of protein disaggregation
Liberek, Krzysztof, Lewandowska, Agnieszka, Ziętkiewicz, Szymon
Published in The EMBO journal (23.01.2008)
Published in The EMBO journal (23.01.2008)
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Journal Article
Hsp70 displaces small heat shock proteins from aggregates to initiate protein refolding
Żwirowski, Szymon, Kłosowska, Agnieszka, Obuchowski, Igor, Nillegoda, Nadinath B, Piróg, Artur, Ziętkiewicz, Szymon, Bukau, Bernd, Mogk, Axel, Liberek, Krzysztof
Published in The EMBO journal (15.03.2017)
Published in The EMBO journal (15.03.2017)
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Journal Article
Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency
Wortmann, Saskia B, Ziętkiewicz, Szymon, Guerrero-Castillo, Sergio, Feichtinger, René G, Wagner, Matias, Russell, Jacqui, Ellaway, Carolyn, Mróz, Dagmara, Wyszkowski, Hubert, Weis, Denisa, Hannibal, Iris, von Stülpnagel, Celina, Cabrera-Orefice, Alfredo, Lichter-Konecki, Uta, Gaesser, Jenna, Windreich, Randy, Myers, Kasiani C, Lorsbach, Robert, Dale, Russell C, Gersting, Søren, Prada, Carlos E, Christodoulou, John, Wolf, Nicole I, Venselaar, Hanka, Mayr, Johannes A, Wevers, Ron A
Published in Genetics in medicine (01.09.2021)
Published in Genetics in medicine (01.09.2021)
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Case Report: Lennox-Gastaut Epileptic Encephalopathy Responsive to Cannabidiol Treatment Associated With a Novel de novo Mosaic SHANK1 Variant
Paprocka, Justyna, Ziętkiewicz, Szymon, Kosińska, Joanna, Kaczorowska, Ewa, Płoski, Rafał
Published in Frontiers in genetics (29.11.2021)
Published in Frontiers in genetics (29.11.2021)
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Disruption of Ionic Interactions between the Nucleotide Binding Domain 1 (NBD1) and Middle (M) Domain in Hsp100 Disaggregase Unleashes Toxic Hyperactivity and Partial Independence from Hsp70
Lipińska, Natalia, Ziętkiewicz, Szymon, Sobczak, Alicja, Jurczyk, Agnieszka, Potocki, Wojciech, Morawiec, Ewa, Wawrzycka, Aleksandra, Gumowski, Krzysztof, Ślusarz, Magdalena, Rodziewicz-Motowidło, Sylwia, Chruściel, Elżbieta, Liberek, Krzysztof
Published in The Journal of biological chemistry (25.01.2013)
Published in The Journal of biological chemistry (25.01.2013)
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Importance of N- and C-terminal Regions of IbpA, Escherichia coli Small Heat Shock Protein, for Chaperone Function and Oligomerization
Stróżecka, Joanna, Chruściel, Elżbieta, Górna, Emilia, Szymańska, Aneta, Ziętkiewicz, Szymon, Liberek, Krzysztof
Published in The Journal of biological chemistry (20.01.2012)
Published in The Journal of biological chemistry (20.01.2012)
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Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia
Lipska-Ziętkiewicz, Beata S, Gellermann, Jutta, Boyer, Olivia, Gribouval, Olivier, Ziętkiewicz, Szymon, Kari, Jameela A, Shalaby, Mohamed A, Ozaltin, Fatih, Dusek, Jiri, Melk, Anette, Bayazit, Aysun K, Massella, Laura, Hyla-Klekot, Lidia, Habbig, Sandra, Godron, Astrid, Szczepańska, Maria, Bieniaś, Beata, Drożdż, Dorota, Odeh, Rasha, Jarmużek, Wioletta, Zachwieja, Katarzyna, Trautmann, Agnes, Antignac, Corinne, Schaefer, Franz
Published in PloS one (10.08.2017)
Published in PloS one (10.08.2017)
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Journal Article
Correction to: Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency
Wortmann, Saskia B, Ziętkiewicz, Szymon, Guerrero-Castillo, Sergio, Feichtinger, René G, Wagner, Matias, Russell, Jacqui, Ellaway, Carolyn, Mróz, Dagmara, Wyszkowski, Hubert, Weis, Denisa, Hannibal, Iris, von Stülpnagel, Celina, Cabrera-Orefice, Alfredo, Lichter-Konecki, Uta, Gaesser, Jenna, Windreich, Randy, Myers, Kasiani C, Lorsbach, Robert, Dale, Russell C, Gersting, Søren, Prada, Carlos E, Christodoulou, John, Wolf, Nicole I, Venselaar, Hanka, Mayr, Johannes A, Wevers, Ron A
Published in Genetics in medicine (01.09.2021)
Published in Genetics in medicine (01.09.2021)
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Journal Article
IbpA the small heat shock protein from Escherichia coli forms fibrils in the absence of its cochaperone IbpB
Ratajczak, Elżbieta, Stróżecka, Joanna, Matuszewska, Marlena, Ziętkiewicz, Szymon, Kuczyńska-Wiśnik, Dorota, Laskowska, Ewa, Liberek, Krzysztof
Published in FEBS letters (03.06.2010)
Published in FEBS letters (03.06.2010)
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Journal Article
Heterozygous Variants in the Clpbgene Associated with Neutropenia Affect Neutrophil Function
Dobrewa, Weronika, Folkert, Justyna, Malicki, Stanisław, Chruscicka-Smaga, Barbara, Bryzek, Danuta, Dobosz, Ewelina, Dachowska-Kalwak, Iwona, Kalwak, Krzysztof, Hennig, Marcin, Renke, Joanna, Babol-Pokora, Katarzyna, Szymon, Zietkiewicz, Koziel, Joanna, Rydzynska, Zuzanna, Mlynarski, Wojciech, Potempa, Jan, Florian, Veillard, Madzio, Joanna
Published in Blood (02.11.2023)
Published in Blood (02.11.2023)
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Syndromic chorioretinal coloboma associated with heterozygous de novo RARA mutation affecting an amino acid critical for retinoic acid interaction
Jakubiuk‐Tomaszuk, Anna, Murcia Pienkowski, Victor, Zietkiewicz, Szymon, Rydzanicz, Małgorzata, Kosińska, Joanna, Stawiński, Piotr, Szumiński, Michał, Płoski, Rafał
Published in Clinical genetics (01.10.2019)
Published in Clinical genetics (01.10.2019)
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