Zobrazeno 1 - 10
of 69
pro vyhledávání: '"Tomasz Kmieć"'
Autor:
Enrica Zanuttigh, Kevork Derderian, Miriam A. Güra, Arie Geerlof, Ivano Di Meo, Chiara Cavestro, Stefan Hempfling, Stephanie Ortiz-Collazos, Mario Mauthe, Tomasz Kmieć, Eugenia Cammarota, Maria Carla Panzeri, Thomas Klopstock, Michael Sattler, Juliane Winkelmann, Ana C. Messias, Arcangela Iuso
Publikováno v:
Pharmaceutics, Vol 15, Iss 1, p 267 (2023)
Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a relentlessly progressive neurodegenerative disorder caused by mutations in the C19orf12 gene. C19orf12 has been implicated in playing a role in lipid metabolism, mitochondrial fu
Externí odkaz:
https://doaj.org/article/08ddda2e943348d48dfa60c232cfa9f8
Autor:
Agnieszka Ługowska, Galina Baydakova, Alex Ilyushkina, Ekaterina Zakharova, Hanna Mierzewska, Krystyna Szymańska, Jolanta Wierzba, Jolanta Kubalska, Ałła Graban, Tomasz Kmieć, Barbara Perkowska-Sumiła, Anna Tylki-Szymańska, Małgorzata Bednarska-Makaruk
Publikováno v:
Diagnostics, Vol 11, Iss 2, p 320 (2021)
Increased activity of dipeptidyl peptidase IV (DPP-IV) was reported earlier in patients with different types of mucopolysaccharidoses. DPP-IV (also known as CD26 lymphocyte T surface antigen) is a transmembrane protein showing protease activity. This
Externí odkaz:
https://doaj.org/article/e50ce5218c0644baaf48e583eb8bd269
Autor:
Abhishek Anil Dubey, Magdalena Krygier, Natalia A Szulc, Karolina Rutkowska, Joanna Kosińska, Agnieszka Pollak, Małgorzata Rydzanicz, Tomasz Kmieć, Maria Mazurkiewicz-Bełdzińska, Wojciech Pokrzywa, Rafał Płoski
Publikováno v:
Human Molecular Genetics. 32:1152-1161
The principal component of the protein homeostasis network is the ubiquitin-proteasome system. Ubiquitination is mediated by an enzymatic cascade involving, i.e. E3 ubiquitin ligases, many of which belong to the cullin-RING ligases family. Genetic de
Autor:
Enrica Zanuttigh, Kevork Derderian, Miriam A. Güra, Arie Geerlof, Ivano Di Meo, Chiara Cavestro, Stefan Hempfling, Stephanie Ortiz-Collazos, Mario Mauthe, Tomasz Kmieć, Eugenia Cammarota, Maria Carla Panzeri, Thomas Klopstock, Michael Sattler, Juliane Winkelmann, Ana C. Messias, Arcangela Iuso
Publikováno v:
Pharmaceutics 15(1), 267 (2023). doi:10.3390/pharmaceutics15010267
Pharmaceutics; Volume 15; Issue 1; Pages: 267
Pharmaceutics; Volume 15; Issue 1; Pages: 267
Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a relentlessly progressive neurodegenerative disorder caused by mutations in the C19orf12 gene. C19orf12 has been implicated in playing a role in lipid metabolism, mitochondrial fu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2892404f86841fa9cd7f174609b37e62
https://mediatum.ub.tum.de/1701699
https://mediatum.ub.tum.de/1701699
Autor:
Abhishek Anil Dubey, Magdalena Krygier, Natalia A. Szulc, Karolina Rutkowska, Joanna Kosińska, Agnieszka Pollak, Małgorzata Rydzanicz, Tomasz Kmieć, Maria Mazurkiewicz-Bełdzińska, Wojciech Pokrzywa, Rafał Płoski
The principal component of the protein homeostasis network is the ubiquitin-proteasome system. Ubiquitination is mediated by an enzymatic cascade involving, i.e., E3 ubiquitin ligases, many of which belong to the cullin-RING ligases family. Genetic d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fdb3e9b58f9f6cf432a8c13fc0bf56da
https://doi.org/10.1101/2022.04.24.489208
https://doi.org/10.1101/2022.04.24.489208
Autor:
Manju A. Kurian, Joanna M. Flowers, Kishore R. Kumar, Glenn Anderson, Sniya Sudhakar, Matej Skorvanek, Bernhard Haslinger, Kshitij Mankad, Martje E. van Egmond, Corien Verschuuren, Rauan Kaiyrzhanov, Nicholas W. Wood, Arianna Ferrini, Nardo Nardocci, Riccardo Berutti, Arcangela Iuso, Barbara Plecko, Juliane Winkelmann, Matias Wagner, P. Darveniza, Philippe Coubes, Arianna Tucci, Paulina Gonzalez-Latapi, Ryan L. Davis, Diane Demailly, Katy Barwick, Erik-Jan Kamsteeg, Kai Bötzel, Tomasz Kmieć, Ján Necpál, Giovanna Zorzi, Derek Burke, Sylvia Boesch, Dora Steel, Barbara Garavaglia, Steven J. Lubbe, Bernabé I. Bustos, Carolyn M. Sue, Chen Zhao, Meriel McEntagart, Stephen Tisch, Henry Houlden, Jan C. Koch, Robert Jech, Sarah Wiethoff, Michael Zech, Laura Cif, Niccolo E. Mencacci, Marina A. J. Tijssen, Suvasini Sharma, Kathryn J. Peall, Paul Gissen, Kathleen M. Gorman
Publikováno v:
Annals of Neurology. 88:867-877
Objectives The majority of people with suspected genetic dystonia remain undiagnosed after maximal investigation, implying that a number of causative genes have not yet been recognised. We aimed to investigate this paucity of diagnoses. Methods We un
Autor:
Maria L. Escolar, Neal Hermanowicz, María José Martí, Giovanna Zorzi, Graeme A. M. Nimmo, Laura Tochen, Saadet Mercimek-Andrews, Almut Turid Bischoff, Jamie L. Fraser, Hyder A. Jinnah, Tomasz Kmieć, Laura Cif, Victoria Gonzalez, Robert Jech, Aleksandar Videnovic, Marta Correa-Vela, Cecilia Bonnet, Feriandas Greblikas, Thomas Klopstock, Belén Pérez-Dueñas, Migvis Monduy, Nora Vanegas-Arroyave, Helle Cecilie Viekilde Pfeiffer, Colleen Burns, Cynthia L. Comella, Emmanuel Roze, Lluís Planellas, Anthony E. Lang, Nivedita Thakur
Publikováno v:
Scientia
Movement disorders 36(6), 1342-1352 (2020). doi:10.1002/mds.28392
Movement Disorders
Movement disorders 36(6), 1342-1352 (2020). doi:10.1002/mds.28392
Movement Disorders
Fosmetpantotenate; Randomized controlled trial Fosmetpantotenato; Ensayo controlado aleatorizado Fosmetpantotenat; Assaig controlat aleatoritzat Background Pantothenate kinase–associated neurodegeneration (PKAN) currently has no approved treatments
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5db53d3f026d8a4d72e0308c80ed988
https://hdl.handle.net/11351/7782
https://hdl.handle.net/11351/7782
Autor:
Barbara Perkowska-Sumiła, Jolanta Wierzba, Anna Tylki-Szymańska, Jolanta Kubalska, Krystyna Szymańska, Ałła Graban, Galina Baydakova, Alex Ilyushkina, Agnieszka Ługowska, Hanna Mierzewska, Ekaterina Zakharova, Tomasz Kmieć, Małgorzata Bednarska-Makaruk
Publikováno v:
Diagnostics, Vol 11, Iss 320, p 320 (2021)
Diagnostics
Volume 11
Issue 2
Diagnostics
Volume 11
Issue 2
Increased activity of dipeptidyl peptidase IV (DPP-IV) was reported earlier in patients with different types of mucopolysaccharidoses. DPP-IV (also known as CD26 lymphocyte T surface antigen) is a transmembrane protein showing protease activity. This
Autor:
Anna Członkowska, Tomasz Litwin, Małgorzata Buksińska-Lisik, Tomasz Kmieć, Iwona Kurkowska-Jastrzębska, Marta Skowrońska
Publikováno v:
Parkinsonismrelated disorders. 80
Introduction In mitochondrial membrane protein-associated neurodegeneration (MPAN), a subtype of neurodegeneration with brain iron accumulation (NBIA), patients suffer from optic nerve atrophy and dementia, which are also typical for another group of
Autor:
Florian Schubert, Till Huelnhagen, Susanne A. Schneider, Gudrun Schottmann, Jens Wuerfel, Antje Els, Bernd Ittermann, Petr Dusek, Thomas Klopstock, Julio Acosta-Cabronero, Ralf Mekle, Marcus Deschauer, Marta Skowrońska, Simon Robinson, Friedemann Paul, Vince I. Madai, Tomasz Kmieć, Thoralf Niendorf
Publikováno v:
Movement disorders 35(1), 142-150 (2019). doi:10.1002/mds.27827
Mitochondrial membrane protein-associated neurodegeneration is an autosomal-recessive disorder caused by C19orf12 mutations and characterized by iron deposits in the basal ganglia.The aim of this study was to quantify iron concentrations in deep gray
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8c71091ce9d5bc525f9c5191b49b19e
http://edoc.mdc-berlin.de/18430/1/18430oa.pdf
http://edoc.mdc-berlin.de/18430/1/18430oa.pdf