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138 results on '"Kabzińska, Dagmara"'

1. The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME

Author

Senderek, Jan, Lassuthova, Petra, Kabzińska, Dagmara, Abreu, Lisa, Baets, Jonathan, Beetz, Christian, Braathen, Geir J., Brenner, David, Dalton, Joline, Dankwa, Lois, Deconinck, Tine, De Jonghe, Peter, Dräger, Bianca, Eggermann, Katja, Ellis, Melina, Fischer, Carina, Stojkovic, Tanya, Herrmann, David N., Horvath, Rita, Høyer, Helle, Iglseder, Stephan, Kennerson, Marina, Kinslechner, Katharina, Kohler, Jennefer N., Kurth, Ingo, Laing, Nigel G., Lamont, Phillipa J., N. Löscher, Wolfgang, Ludolph, Albert, Marques, Wilson, Jr, Nicholson, Garth, Ong, Royston, Petri, Susanne, Ravenscroft, Gianina, Rebelo, Adriana, Ricci, Giulia, Rudnik-Schöneborn, Sabine, Schirmacher, Anja, Schlotter-Weigel, Beate, Schoels, Ludger, Schüle, Rebecca, Synofzik, Matthis, Francou, Bruno, Strom, Tim M., Wagner, Johannes, Walk, David, Wanschitz, Julia, Weinmann, Daniela, Weishaupt, Jochen, Wiessner, Manuela, Windhager, Reinhard, Young, Peter, Züchner, Stephan, Toegel, Stefan, Seeman, Pavel, Kochański, Andrzej, and Auer-Grumbach, Michaela

Published
2020
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6. Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation

Author

Beijer, Danique, primary, Kim, Hong Joo, additional, Guo, Lin, additional, O’Donovan, Kevin, additional, Mademan, Inès, additional, Deconinck, Tine, additional, Van Schil, Kristof, additional, Fare, Charlotte M., additional, Drake, Lauren E., additional, Ford, Alice F., additional, Kochański, Andrzej, additional, Kabzińska, Dagmara, additional, Dubuisson, Nicolas, additional, Van den Bergh, Peter, additional, Voermans, Nicol C., additional, Lemmers, Richard J.L.F., additional, van der Maarel, Silvère M., additional, Bonner, Devon, additional, Sampson, Jacinda B., additional, Wheeler, Matthew T., additional, Mehrabyan, Anahit, additional, Palmer, Steven, additional, De Jonghe, Peter, additional, Shorter, James, additional, Taylor, J. Paul, additional, and Baets, Jonathan, additional

Published
2021
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7. Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation.

Author

UCL - (SLuc) Service de neurologie, UCL - SSS/IREC/EDIN - Pôle d'endocrinologie, diabète et nutrition, UCL - (SLuc) Centre de référence neuromusculaire, Beijer, Danique, Kim, Hong Joo, Guo, Lin, O'Donovan, Kevin, Mademan, Inès, Deconinck, Tine, Van Schil, Kristof, Fare, Charlotte M, Drake, Lauren E, Ford, Alice F, Kochański, Andrzej, Kabzińska, Dagmara, Dubuisson, Nicolas, Van den Bergh, Peter, Voermans, Nicol C, Lemmers, Richard Jlf, van der Maarel, Silvère M, Bonner, Devon, Sampson, Jacinda B, Wheeler, Matthew T, Mehrabyan, Anahit, Palmer, Steven, De Jonghe, Peter, Shorter, James, Taylor, J Paul, Baets, Jonathan, UCL - (SLuc) Service de neurologie, UCL - SSS/IREC/EDIN - Pôle d'endocrinologie, diabète et nutrition, UCL - (SLuc) Centre de référence neuromusculaire, Beijer, Danique, Kim, Hong Joo, Guo, Lin, O'Donovan, Kevin, Mademan, Inès, Deconinck, Tine, Van Schil, Kristof, Fare, Charlotte M, Drake, Lauren E, Ford, Alice F, Kochański, Andrzej, Kabzińska, Dagmara, Dubuisson, Nicolas, Van den Bergh, Peter, Voermans, Nicol C, Lemmers, Richard Jlf, van der Maarel, Silvère M, Bonner, Devon, Sampson, Jacinda B, Wheeler, Matthew T, Mehrabyan, Anahit, Palmer, Steven, De Jonghe, Peter, Shorter, James, Taylor, J Paul, and Baets, Jonathan

Abstract

Mutations in HNRNPA1 encoding heterogeneous nuclear ribonucleoprotein (hnRNP) A1 are a rare cause of amyotrophic lateral sclerosis (ALS) and multisystem proteinopathy (MSP). hnRNPA1 is part of the group of RNA-binding proteins (RBPs) that assemble with RNA to form RNPs. hnRNPs are concentrated in the nucleus and function in pre-mRNA splicing, mRNA stability, and the regulation of transcription and translation. During stress, hnRNPs, mRNA, and other RBPs condense in the cytoplasm to form stress granules (SGs). SGs are implicated in the pathogenesis of (neuro-)degenerative diseases, including ALS and inclusion body myopathy (IBM). Mutations in RBPs that affect SG biology, including FUS, TDP-43, hnRNPA1, hnRNPA2B1, and TIA1, underlie ALS, IBM, and other neurodegenerative diseases. Here, we characterize 4 potentially novel HNRNPA1 mutations (yielding 3 protein variants: *321Eext*6, *321Qext*6, and G304Nfs*3) and 2 known HNRNPA1 mutations (P288A and D262V), previously connected to ALS and MSP, in a broad spectrum of patients with hereditary motor neuropathy, ALS, and myopathy. We establish that the mutations can have different effects on hnRNPA1 fibrillization, liquid-liquid phase separation, and SG dynamics. P288A accelerated fibrillization and decelerated SG disassembly, whereas *321Eext*6 had no effect on fibrillization but decelerated SG disassembly. By contrast, G304Nfs*3 decelerated fibrillization and impaired liquid phase separation. Our findings suggest different underlying pathomechanisms for HNRNPA1 mutations with a possible link to clinical phenotypes.

Published
2021

8. Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation.

Author

Beijer, Danique, Kim, Hong Joo, Guo, Lin, O'Donovan, Kevin, Mademan, Inès, Deconinck, Tine, Van Schil, Kristof, Fare, Charlotte M, Drake, Lauren E, Ford, Alice F, Kochański, Andrzej, Kabzińska, Dagmara, Dubuisson, Nicolas, Van den Bergh, Peter, Voermans, Nicol C, Lemmers, Richard Jlf, van der Maarel, Silvère M, Bonner, Devon, Sampson, Jacinda B, Wheeler, Matthew T, Mehrabyan, Anahit, Palmer, Steven, De Jonghe, Peter, Shorter, James, Taylor, J Paul, Baets, Jonathan, Beijer, Danique, Kim, Hong Joo, Guo, Lin, O'Donovan, Kevin, Mademan, Inès, Deconinck, Tine, Van Schil, Kristof, Fare, Charlotte M, Drake, Lauren E, Ford, Alice F, Kochański, Andrzej, Kabzińska, Dagmara, Dubuisson, Nicolas, Van den Bergh, Peter, Voermans, Nicol C, Lemmers, Richard Jlf, van der Maarel, Silvère M, Bonner, Devon, Sampson, Jacinda B, Wheeler, Matthew T, Mehrabyan, Anahit, Palmer, Steven, De Jonghe, Peter, Shorter, James, Taylor, J Paul, and Baets, Jonathan

Abstract

Mutations in HNRNPA1 encoding heterogeneous nuclear ribonucleoprotein (hnRNP) A1 are a rare cause of amyotrophic lateral sclerosis (ALS) and multisystem proteinopathy (MSP). hnRNPA1 is part of the group of RNA-binding proteins (RBPs) that assemble with RNA to form RNPs. hnRNPs are concentrated in the nucleus and function in pre-mRNA splicing, mRNA stability, and the regulation of transcription and translation. During stress, hnRNPs, mRNA, and other RBPs condense in the cytoplasm to form stress granules (SGs). SGs are implicated in the pathogenesis of (neuro-)degenerative diseases, including ALS and inclusion body myopathy (IBM). Mutations in RBPs that affect SG biology, including FUS, TDP-43, hnRNPA1, hnRNPA2B1, and TIA1, underlie ALS, IBM, and other neurodegenerative diseases. Here, we characterize 4 potentially novel HNRNPA1 mutations (yielding 3 protein variants: *321Eext*6, *321Qext*6, and G304Nfs*3) and 2 known HNRNPA1 mutations (P288A and D262V), previously connected to ALS and MSP, in a broad spectrum of patients with hereditary motor neuropathy, ALS, and myopathy. We establish that the mutations can have different effects on hnRNPA1 fibrillization, liquid-liquid phase separation, and SG dynamics. P288A accelerated fibrillization and decelerated SG disassembly, whereas *321Eext*6 had no effect on fibrillization but decelerated SG disassembly. By contrast, G304Nfs*3 decelerated fibrillization and impaired liquid phase separation. Our findings suggest different underlying pathomechanisms for HNRNPA1 mutations with a possible link to clinical phenotypes.

Published
2021

11. L239F founder mutation in GDAP1 is associated with a mild Charcot–Marie–Tooth type 4C4 (CMT4C4) phenotype

Author

Kabzińska, Dagmara, Strugalska-Cynowska, Halina, Kostera-Pruszczyk, Anna, Ryniewicz, Barbara, Posmyk, Renata, Midro, Alina, Seeman, Pavel, Báranková, Lucia, Zimoń, Magdalena, Baets, Jonathan, Timmerman, Vincent, Guergueltcheva, Velina, Tournev, Ivailo, Sarafov, Stayko, De Jonghe, Peter, Jordanova, Albena, Hausmanowa-Petrusewicz, Irena, and Kochański, Andrzej

Published
2010
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12. Phylogenetic Relatedness within the Internally Brooding Sea Anemones from the Arctic-Boreal Region

Author

Kaliszewicz, Anita, primary, Panteleeva, Ninel, additional, Żmuda-Baranowska, Magdalena, additional, Szawaryn, Karol, additional, Olejniczak, Izabella, additional, Boniecki, Paweł, additional, Grebelnyi, Sergey D., additional, Kabzińska, Dagmara, additional, Romanowski, Jerzy, additional, Maciaszek, Rafał, additional, Górska, Ewa B., additional, and Zawadzka-Sieradzka, Joanna, additional

Published
2021
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15. Genetic spectrum of hereditary neuropathies with onset in the first year of life

Author

Baets, Jonathan, Deconinck, Tine, De Vriendt, Els, Zimoń, Magdalena, Yperzeele, Laetitia, Van Hoorenbeeck, Kim, Peeters, Kristien, Spiegel, Ronen, Parman, Yesim, Ceulemans, Berten, Van Bogaert, Patrick, Pou-Serradell, Adolf, Bernert, Günther, Dinopoulos, Argirios, Auer-Grumbach, Michaela, Sallinen, Satu-Leena, Fabrizi, Gian Maria, Pauly, Fernand, Van den Bergh, Peter, Bilir, Birdal, Battaloglu, Esra, Madrid, Ricardo E., Kabzińska, Dagmara, Kochanski, Andrzej, Topaloglu, Haluk, Miller, Geoffrey, Jordanova, Albena, Timmerman, Vincent, and De Jonghe, Peter

Published
2011
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22. Truncating and Missense Mutations in IGHMBP2 Cause Charcot-Marie Tooth Disease Type 2

Author

Cottenie, Ellen, Kochanski, Andrzej, Jordanova, Albena, Bansagi, Boglarka, Zimon, Magdalena, Horga, Alejandro, Jaunmuktane, Zane, Saveri, Paola, Rasic, Vedrana Milic, Baets, Jonathan, Bartsakoulia, Marina, Ploski, Rafal, Teterycz, Pawel, Nikolic, Milos, Quinlivan, Ros, Laura, Matilde, Sweeney, Mary G., Taroni, Franco, Lunn, Michael P., Moroni, Isabella, Gonzalez, Michael, Hanna, Michael G., Bettencourt, Conceicao, Chabrol, Elodie, Franke, Andre, von Au, Katja, Schilhabel, Markus, Kabzińska, Dagmara, Hausmanowa-Petrusewicz, Irena, Brandner, Sebastian, Lim, Siew Choo, Song, Haiwei, Choi, Byung-Ok, Horvath, Rita, Chung, Ki-Wha, Zuchner, Stephan, Pareyson, Davide, Harms, Matthew, Reilly, Mary M., and Houlden, Henry

Subjects
Genetics, Genetics(clinical)
Abstract

Using a combination of exome sequencing and linkage analysis, we investigated an English family with two affected siblings in their 40s with recessive Charcot-Marie Tooth disease type 2 (CMT2). Compound heterozygous mutations in the immunoglobulin-helicase-μ-binding protein 2 (IGHMBP2) gene were identified. Further sequencing revealed a total of 11 CMT2 families with recessively inherited IGHMBP2 gene mutations. IGHMBP2 mutations usually lead to spinal muscular atrophy with respiratory distress type 1 (SMARD1), where most infants die before 1 year of age. The individuals with CMT2 described here, have slowly progressive weakness, wasting and sensory loss, with an axonal neuropathy typical of CMT2, but no significant respiratory compromise. Segregating IGHMBP2 mutations in CMT2 were mainly loss-of-function nonsense in the 5′ region of the gene in combination with a truncating frameshift, missense, or homozygous frameshift mutations in the last exon. Mutations in CMT2 were predicted to be less aggressive as compared to those in SMARD1, and fibroblast and lymphoblast studies indicate that the IGHMBP2 protein levels are significantly higher in CMT2 than SMARD1, but lower than controls, suggesting that the clinical phenotype differences are related to the IGHMBP2 protein levels.

Published
2014
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28. Perspektywy terapii w polineuropatiach genetycznie uwarunkowanych.

Author

Kabzińska, Dagmara, Rzepnikowska, Weronika, Binięda, Katarzyna, Kiepura, Artur, and Kochański, Andrzej

Abstract

Copyright of Advances in Biochemistry / Postepy Biochemii is the property of Polish Biochemical Society / Acta Biochimica Polonica and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2018

36. Genetic spectrum of hereditary neuropathies with onset in the first year of life

Author

UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie, Baets, Jonathan, Deconinck, Tine, De Vriendt, Els, Zimoń, Magdalena, Yperzeele, Laetitia, Van Hoorenbeeck, Kim, Peeters, Kristien, Spiegel, Ronen, Parman, Yesim, Ceulemans, Berten, Van Bogaert, Patrick, Pou-Serradell, Adolf, Bernert, Günther, Dinopoulos, Argirios, Auer-Grumbach, Michaela, Sallinen, Satu-Leena, Fabrizi, Gian Maria, Pauly, Fernand, Van den Bergh, Peter, Bilir, Birdal, Battaloglu, Esra, Madrid, Ricardo E., Kabzińska, Dagmara, Kochanski, Andrzej, Topaloglu, Haluk, Miller, Geoffrey, Jordanova, Albena, Timmerman, Vincent, De Jonghe, Peter, UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie, Baets, Jonathan, Deconinck, Tine, De Vriendt, Els, Zimoń, Magdalena, Yperzeele, Laetitia, Van Hoorenbeeck, Kim, Peeters, Kristien, Spiegel, Ronen, Parman, Yesim, Ceulemans, Berten, Van Bogaert, Patrick, Pou-Serradell, Adolf, Bernert, Günther, Dinopoulos, Argirios, Auer-Grumbach, Michaela, Sallinen, Satu-Leena, Fabrizi, Gian Maria, Pauly, Fernand, Van den Bergh, Peter, Bilir, Birdal, Battaloglu, Esra, Madrid, Ricardo E., Kabzińska, Dagmara, Kochanski, Andrzej, Topaloglu, Haluk, Miller, Geoffrey, Jordanova, Albena, Timmerman, Vincent, and De Jonghe, Peter

Abstract

Early onset hereditary motor and sensory neuropathies are rare disorders encompassing congenital hypomyelinating neuropathy with disease onset in the direct post-natal period and Dejerine-Sottas neuropathy starting in infancy. The clinical spectrum, however, reaches beyond the boundaries of these two historically defined disease entities. De novo dominant mutations in PMP22, MPZ and EGR2 are known to be a typical cause of very early onset hereditary neuropathies. In addition, mutations in several other dominant and recessive genes for Charcot-Marie-Tooth disease may lead to similar phenotypes. To estimate mutation frequencies and to gain detailed insights into the genetic and phenotypic heterogeneity of early onset hereditary neuropathies, we selected a heterogeneous cohort of 77 unrelated patients who presented with symptoms of peripheral neuropathy within the first year of life. The majority of these patients were isolated in their family. We performed systematic mutation screening by means of direct sequencing of the coding regions of 11 genes: MFN2, PMP22, MPZ, EGR2, GDAP1, NEFL, FGD4, MTMR2, PRX, SBF2 and SH3TC2. In addition, screening for the Charcot-Marie-Tooth type 1A duplication on chromosome 17p11.2-12 was performed. In 35 patients (45), mutations were identified. Mutations in MPZ, PMP22 and EGR2 were found most frequently in patients presenting with early hypotonia and breathing difficulties. The recessive genes FGD4, PRX, MTMR2, SBF2, SH3TC2 and GDAP1 were mutated in patients presenting with early foot deformities and variable delay in motor milestones after an uneventful neonatal period. Several patients displaying congenital foot deformities but an otherwise normal early development carried the Charcot-Marie-Tooth type 1A duplication. This study clearly illustrates the genetic heterogeneity underlying hereditary neuropathies with infantile onset. © 2011 The Author.

Published
2011

39. A novel TPM2gene splice-site mutation causes severe congenital myopathy with arthrogryposis and dysmorphic features

Author

Mroczek, Magdalena, Kabzińska, Dagmara, Chrzanowska, Krystyna, Pronicki, Maciej, and Kochański, Andrzej

Abstract

To date, only two splice-site mutations within the TPM2gene have been shown to be causative for congenital myopathies. While the majority of TPM2gene mutations are causative for nemaline myopathy, cap disease or distal arthrogryposis, some mutations in this gene have been found to be associated with non-specific congenital myopathy. We report on a patient with such an unspecified congenital myopathy associated with distinctive facial dysmorphic features and distal arthrogryposis. Using the whole exome sequencing (WES) approach we were able to identify a novel heterozygous splice-site mutation within the TPM2gene, showing the utility of WES in molecular diagnostics of congenital myopathies without recognizable morphological hallmarks.

Published
2017
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47. Early-Onset Facioscapulohumeral Muscular Dystrophy Type 1 With Some Atypical Features.

Author

Dorobek, Małgorzata, van der Maarel, Silvère M., Lemmers, Richard J. L. F., Ryniewicz, Barbara, Kabzińska, Dagmara, Frants, Rune R., Gawel, Malgorzata, Walecki, Jerzy, and Hausmanowa-Petrusewicz, Irena

Subjects
MUSCULAR dystrophy, RESPIRATORY insufficiency, CARDIOMYOPATHIES, LUNG diseases, PHENOTYPES
Abstract

Facioscapulohumeral muscular dystrophy cases with facial weakness before the age of 5 and signs of shoulder weakness by the age of 10 are defined as early onset. Contraction of the D4Z4 repeat on chromosome 4q35 is causally related to facioscapulohumeral muscular dystrophy type 1, and the residual size of the D4Z4 repeat shows a roughly inverse correlation with the severity of the disease. Contraction of the D4Z4 repeat on chromosome 4q35 is believed to induce a local change in chromatin structure and consequent transcriptional deregulation of 4qter genes. We present early-onset cases in the Polish population that amounted to 21% of our total population with facioscapulohumeral muscular dystrophy. More than 27% of them presented with severe phenotypes (wheelchair dependency). The residual D4Z4 repeat sizes ranged from 1 to 4 units. In addition, even within early-onset facioscapulohumeral muscular dystrophy type 1 phenotypes, some cases had uncommon features (head drop, early disabling contractures, progressive ptosis, and respiratory insufficiency and cardiomyopathy). [ABSTRACT FROM PUBLISHER]

Published
2015
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48. The LITAF/ SIMPLE I92V sequence variant results in an earlier age of onset of CMT1A/HNPP diseases.

Author

Sinkiewicz-Darol, Elena, Lacerda, Andressa, Kostera-Pruszczyk, Anna, Potulska-Chromik, Anna, Sokołowska, Beata, Kabzińska, Dagmara, Brunetti, Craig, Hausmanowa-Petrusewicz, Irena, and Kochański, Andrzej

Abstract

Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) represent the most common heritable neuromuscular disorders. Molecular diagnostics of CMT1A/HNPP diseases confirm clinical diagnosis, but their value is limited to the clinical course and prognosis. However, no biomarkers of CMT1A/HNPP have been identified. We decided to explore if the LITAF/ SIMPLE gene shared a functional link to the PMP22 gene, whose duplication or deletion results in CMT1A and HNPP, respectively. By studying a large cohort of CMT1A/HNPP-affected patients, we found that the LITAF I92V sequence variant predisposes patients to an earlier age of onset of both the CMT1A and HNPP diseases. Using cell transfection experiments, we showed that the LITAF I92V sequence variant partially mislocalizes to the mitochondria in contrast to wild-type LITAF which localizes to the late endosome/lysosomes and is associated with a tendency for PMP22 to accumulate in the cells. Overall, this study shows that the I92V LITAF sequence variant would be a good candidate for a biomarker in the case of the CMT1A/HNPP disorders. [ABSTRACT FROM AUTHOR]

Published
2015
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