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30 results on '"Miskiewicz, Katarzyna"'

1. ATRT–SHH comprises three molecular subgroups with characteristic clinical and histopathological features and prognostic significance

Author

Federico, Aniello, Thomas, Christian, Miskiewicz, Katarzyna, Woltering, Niklas, Zin, Francesca, Nemes, Karolina, Bison, Brigitte, Johann, Pascal D., Hawes, Debra, Bens, Susanne, Kordes, Uwe, Albrecht, Steffen, Dohmen, Hildegard, Hauser, Peter, Keyvani, Kathy, van Landeghem, Frank K. H., Lund, Eva Løbner, Scheie, David, Mawrin, Christian, Monoranu, Camelia-Maria, Parm Ulhøi, Benedicte, Pietsch, Torsten, Reinhard, Harald, Riemenschneider, Markus J., Sehested, Astrid, Sumerauer, David, Siebert, Reiner, Paulus, Werner, Frühwald, Michael C., Kool, Marcel, and Hasselblatt, Martin

Published
2022
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3. Variants of the elongator protein 3 ( ELP3 ) gene are associated with motor neuron degeneration

Author

Simpson, Claire L, Lemmens, Robin, Miskiewicz, Katarzyna, Broom, Wendy J, Hansen, Valerie K, van Vught, Paul WJ, Landers, John E, Sapp, Peter, Van Den Bosch, Ludo, Knight, Joanne, Neale, Benjamin M, Turner, Martin R, Veldink, Jan H, Ophoff, Roel A, Tripathi, Vineeta B, Beleza, Ana, Shah, Meera N, Proitsi, Petroula, Van Hoecke, Annelies, Carmeliet, Peter, Horvitz, H Robert, Leigh, P Nigel, Shaw, Christopher E, van den Berg, Leonard H, Sham, Pak C, Powell, John F, Verstreken, Patrik, Brown, Robert H, Robberecht, Wim, and Al-Chalabi, Ammar

Subjects
Rare Diseases, Genetics, Neurodegenerative, Biotechnology, Brain Disorders, Neurosciences, ALS, 2.1 Biological and endogenous factors, Aetiology, Neurological, Adult, Aged, Aged, 80 and over, Amyotrophic Lateral Sclerosis, Animals, Drosophila, Female, Genetic Predisposition to Disease, Genetic Variation, Histone Acetyltransferases, Humans, Male, Mice, Mice, Transgenic, Middle Aged, Motor Neurons, Mutation, Nerve Tissue Proteins, White People, Zebrafish, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

Amyotrophic lateral sclerosis (ALS) is a spontaneous, relentlessly progressive motor neuron disease, usually resulting in death from respiratory failure within 3 years. Variation in the genes SOD1 and TARDBP accounts for a small percentage of cases, and other genes have shown association in both candidate gene and genome-wide studies, but the genetic causes remain largely unknown. We have performed two independent parallel studies, both implicating the RNA polymerase II component, ELP3, in axonal biology and neuronal degeneration. In the first, an association study of 1884 microsatellite markers, allelic variants of ELP3 were associated with ALS in three human populations comprising 1483 people (P=1.96 x 10(-9)). In the second, an independent mutagenesis screen in Drosophila for genes important in neuronal communication and survival identified two different loss of function mutations, both in ELP3 (R475K and R456K). Furthermore, knock down of ELP3 protein levels using antisense morpholinos in zebrafish embryos resulted in dose-dependent motor axonal abnormalities [Pearson correlation: -0.49, P=1.83 x 10(-12) (start codon morpholino) and -0.46, P=4.05 x 10(-9) (splice-site morpholino), and in humans, risk-associated ELP3 genotypes correlated with reduced brain ELP3 expression (P=0.01). These findings add to the growing body of evidence implicating the RNA processing pathway in neurodegeneration and suggest a critical role for ELP3 in neuron biology and of ELP3 variants in ALS.

Published
2009

14. Tau association with synaptic vesicles causes presynaptic dysfunction

Author

Zhou, Lujia, primary, McInnes, Joseph, additional, Wierda, Keimpe, additional, Holt, Matthew, additional, Herrmann, Abigail G., additional, Jackson, Rosemary J., additional, Wang, Yu-Chun, additional, Swerts, Jef, additional, Beyens, Jelle, additional, Miskiewicz, Katarzyna, additional, Vilain, Sven, additional, Dewachter, Ilse, additional, Moechars, Diederik, additional, De Strooper, Bart, additional, Spires-Jones, Tara L., additional, De Wit, Joris, additional, and Verstreken, Patrik, additional

Published
2017
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16. Hsc70-4 Deforms Membranes to Promote Synaptic Protein Turnover by Endosomal Microautophagy

Author

Uytterhoeven, Valerie, primary, Lauwers, Elsa, additional, Maes, Ine, additional, Miskiewicz, Katarzyna, additional, Melo, Manuel N., additional, Swerts, Jef, additional, Kuenen, Sabine, additional, Wittocx, Rafaël, additional, Corthout, Nikky, additional, Marrink, Siewert-Jan, additional, Munck, Sebastian, additional, and Verstreken, Patrik, additional

Published
2015
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17. Sub-diffraction imaging on standard microscopes through photobleaching with non-liniar processing

Author

Munck, Sebastian, Miskiewicz, Katarzyna, Sannerud, Ragna, Menchon, Silvia, Jose, Liya, Heintzmann, Rainer, Verstreken, Patrik, and Annaert, Wim

Subjects
super-resolution microscopy, method, bleaching
Abstract

Discerning organelles and molecules at nanometer resolution is revolutionizing biological sciences. However, such technology is still limitedly available for many cell biologists. We present here a novel approach using Photobleaching Microscopy with non-linear Processing (PiMP) for sub-diffraction imaging. Bleaching fluorophores both within the single molecule regime and beyond allows visualizing stochastic representations of sub-populations of fluorophores by imaging the same region over time. Our method is based on extracting approximated positional information from these sub-populations. The random nature of the bleached fluorophores is assessed by calculating the deviation of the local actual bleached fluorescent intensity to the average bleach expectation as determined from the overall decay of intensity. Subtracting measured from estimated decay images yields differential images. Non-linear enhancement of maxima in these diffraction limited differential images approximates the positions of the underlying structure. Summing many such processed differential images yields a super-resolution PIMP image. PIMP allows multi-color, three-dimensional sub-diffraction imaging of cells and tissues using common fluorophores and can be implemented on widefield or confocal systems. ispartof: Journal of Cell Science vol:125 issue:9 pages:2257-2266 ispartof: location:England status: published

Published
2012

22. LRRK2 Controls an EndoA Phosphorylation Cycle in Synaptic Endocytosis

Author

Matta, Samer, primary, Van Kolen, Kristof, additional, da Cunha, Raquel, additional, van den Bogaart, Geert, additional, Mandemakers, Wim, additional, Miskiewicz, Katarzyna, additional, De Bock, Pieter-Jan, additional, Morais, Vanessa A., additional, Vilain, Sven, additional, Haddad, Dominik, additional, Delbroek, Lore, additional, Swerts, Jef, additional, Chávez-Gutiérrez, Lucía, additional, Esposito, Giovanni, additional, Daneels, Guy, additional, Karran, Eric, additional, Holt, Matthew, additional, Gevaert, Kris, additional, Moechars, Diederik W., additional, De Strooper, Bart, additional, and Verstreken, Patrik, additional

Published
2012
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25. Impaired Autonomic Regulation of Resistance Arteries in Mice With Low Vascular Endothelial Growth Factor or Upon Vascular Endothelial Growth Factor Trap Delivery

Author

Storkebaum, Erik, primary, Ruiz de Almodovar, Carmen, additional, Meens, Merlijn, additional, Zacchigna, Serena, additional, Mazzone, Massimiliano, additional, Vanhoutte, Greet, additional, Vinckier, Stefan, additional, Miskiewicz, Katarzyna, additional, Poesen, Koen, additional, Lambrechts, Diether, additional, Janssen, Ger M.J., additional, Fazzi, Gregorio E., additional, Verstreken, Patrik, additional, Haigh, Jody, additional, Schiffers, Paul M., additional, Rohrer, Hermann, additional, Van der Linden, Annemie, additional, De Mey, Jo G.R., additional, and Carmeliet, Peter, additional

Published
2010
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26. Variants of the elongator protein 3 ( ELP3 ) gene are associated with motor neuron degeneration

Author

Simpson, Claire L., primary, Lemmens, Robin, additional, Miskiewicz, Katarzyna, additional, Broom, Wendy J., additional, Hansen, Valerie K., additional, van Vught, Paul W.J., additional, Landers, John E., additional, Sapp, Peter, additional, Van Den Bosch, Ludo, additional, Knight, Joanne, additional, Neale, Benjamin M., additional, Turner, Martin R., additional, Veldink, Jan H., additional, Ophoff, Roel A., additional, Tripathi, Vineeta B., additional, Beleza, Ana, additional, Shah, Meera N., additional, Proitsi, Petroula, additional, Van Hoecke, Annelies, additional, Carmeliet, Peter, additional, Horvitz, H. Robert, additional, Leigh, P. Nigel, additional, Shaw, Christopher E., additional, van den Berg, Leonard H., additional, Sham, Pak C., additional, Powell, John F., additional, Verstreken, Patrik, additional, Brown, Robert H., additional, Robberecht, Wim, additional, and Al-Chalabi, Ammar, additional

Published
2008
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28. Sub-diffraction imaging on standard microscopes through photobleaching microscopy with nonlinear processing.

Author

Munck, Sebastian, Miskiewicz, Katarzyna, Sannerud, Ragna, Menchon, Silvia A., Jose, Liya, Heintzmann, Rainer, Verstreken, Patrik, and Annaert, Wim

Subjects
*FLUOROPHORES, *DIFFRACTIVE scattering, *X-ray diffraction, *CYTOLOGY, *FLUORESCENCE microscopy
Abstract

Visualization of organelles and molecules at nanometer resolution is revolutionizing the biological sciences. However, such technology is still limited for many cell biologists. We present here a novel approach using photobleaching microscopy with non-linear processing (PiMP) for sub-diffraction imaging. Bleaching of fluorophores both within the single-molecule regime and beyond allows visualization of stochastic representations of sub-populations of fluorophores by imaging the same region over time. Our method is based on enhancing the probable positions of the fluorophores underlying the images. The random nature of the bleached fluorophores is assessed by calculating the deviation of the local actual bleached fluorescence intensity to the average bleach expectation as given by the overall decay of intensity. Subtracting measured from estimated decay images yields differential images. Non-linear enhancement of maxima in these diffraction-limited differential images approximates the positions of the underlying structure. Summing many such processed differential images yields a super-resolution PiMP image. PiMP allows multi-color, three-dimensional sub-diffraction imaging of cells and tissues using common fluorophores and can be implemented on standard wide-field or confocal systems. [ABSTRACT FROM AUTHOR]

Published
2012
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29. Safety of Oral Clemastine - Analysis of Data from Spontaneous Reporting System in Poland.

Author

Stanistaw Han, Karlowicz-Bodalska, Katarzyna, Miskiewicz, Katarzyna, Kutycka, Elzbieta, and Kuchar, Ernest

Subjects
*ANTIHISTAMINES, *DRUG side effects, *EPIDEMIOLOGY, *ORAL medication, *DRUG tablets
Abstract

Purpose: To analyse the safety of oral clemastine marketed in Poland based on spontaneous adverse event reporting system Methods: We analyzed sales volume and data obtained from the monitoring of spontaneous reports on the adverse effects of Clemastinum Hasco tablets (1.0 mg) and Clemastinum Hasco syrup (0.1 mg/mL) received by the manufacturer (PPF HASCO-LEK S.A. Wroclaw, Poland) and National Monitoring Centre in Warsaw in the period January 2007 to June 2012. The Polish system is mainly based on written reports voluntarily submitted by healthcare professionals. Results: A total of 2,089,717 units of Clemastinum Hasco tablets 1.0 mg and 1,965,340 units of Clemastinum Hasco syrup 0.1 mg/mL were marketed during the period analyzed. Only one spontaneous report on clemastine was registered in the period analyzed. Conclusion: Oral clemastine is a safe medication, rarely causing adverse effects; Nevertheless, the existing spontaneous monitoring system for adverse effects in Poland may not be sensitive enough and therefore, needs improvement. [ABSTRACT FROM AUTHOR]

Published
2014
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30. Impaired autonomic regulation of resistance arteries in mice with low vascular endothelial growth factor or upon vascular endothelial growth factor trap delivery

Author

Jody J. Haigh, Patrik Verstreken, Ger M.J. Janssen, Diether Lambrechts, Peter Carmeliet, Paul M. H. Schiffers, Greet Vanhoutte, Massimiliano Mazzone, Carmen Ruiz de Almodovar, Hermann Rohrer, Jo G. R. De Mey, Gregorio E. Fazzi, Koen Poesen, Stefan Vinckier, Merlijn J. Meens, Annemie Van der Linden, Serena Zacchigna, Katarzyna Miskiewicz, Erik Storkebaum, Promovendi CD, Ondersteunend personeel CD, Farmacologie & Toxicologie, Bedrijfsbureau CD, RS: CARIM School for Cardiovascular Diseases, Storkebaum, Erik, Ruiz De Almodovar, Carmen, Meens, Merlijn, Zacchigna, Serena, Mazzone, Massimiliano, Vanhoutte, Greet, Vinckier, Stefan, Miskiewicz, Katarzyna, Poesen, Koen, Lambrechts, Diether, Janssen, Ger M. J., Fazzi, Gregorio E., Verstreken, Patrik, Haigh, Jody, Schiffers, Paul M., Rohrer, Hermann, Van Der Linden, Annemie, De Mey, Jo G. R., and Carmeliet, Peter

Subjects
Vascular Endothelial Growth Factor A, SYMPATHETIC-NERVOUS-SYSTEM, Vascular smooth muscle, muscle, SMOOTH-MUSCLE-CELLS, Gene Expression, Transgenic, Muscle, Smooth, Vascular, Neuroeffector junction, arteries, chemistry.chemical_compound, Mesenteric Arterie, Mice, Cardiovascular Disease, vasoconstriction, vascular endothelial growth factor, Medicine (all), nervous system, Gene Transfer Techniques, arterie, Autonomic Nervous System Disease, MESENTERIC-ARTERIES, VEGF, Common, Mesenteric Arteries, Vascular endothelial growth factor B, Vascular endothelial growth factor, Vascular endothelial growth factor A, DIFFERENTIATION, medicine.anatomical_structure, Lac Operon, Cardiovascular Diseases, SURVIVAL, Smooth, Cardiology and Cardiovascular Medicine, smooth, Signal Transduction, EXPRESSION, medicine.medical_specialty, Neuroeffector, Carotid Artery, Common, Mice, Transgenic, RATS, Internal medicine, Vascular, Physiology (medical), muscle, smooth, medicine, Animals, Autonomic Nervous System Diseases, Vascular Endothelial Growth Factor Receptor-1, Vascular Endothelial Growth Factor Receptor-2, Vascular Resistance, Vasoconstriction, ERYTHRODYSESTHESIA, RECEPTOR, business.industry, Animal, Biology and Life Sciences, Kinase insert domain receptor, Gene Transfer Technique, Endocrinology, chemistry, Vascular resistance, Human medicine, Carotid Artery, business
Abstract

Background— Control of peripheral resistance arteries by autonomic nerves is essential for the regulation of blood flow. The signals responsible for the maintenance of vascular neuroeffector mechanisms in the adult, however, remain largely unknown. Methods and Results— Here, we report that VEGF ∂/∂ mice with low vascular endothelial growth factor (VEGF) levels suffer defects in the regulation of resistance arteries. These defects are due to dysfunction and structural remodeling of the neuroeffector junction, the equivalent of a synapse between autonomic nerve endings and vascular smooth muscle cells, and to an impaired contractile smooth muscle cell phenotype. Notably, short-term delivery of a VEGF inhibitor to healthy mice also resulted in functional and structural defects of neuroeffector junctions. Conclusions— These findings uncover a novel role for VEGF in the maintenance of arterial neuroeffector function and may help us better understand how VEGF inhibitors cause vascular regulation defects in cancer patients.

Published
2010

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