Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Maike Nagel"'
An iPSC model for POLR3A-associated spastic ataxia: Generation of three unrelated patient cell lines
Autor:
Kalaivani Manibarathi, Tam Pham, Holger Hengel, Matthis Synofzik, Maike Nagel, Rebecca Schüle
Publikováno v:
Stem Cell Research, Vol 76, Iss , Pp 103363- (2024)
Spastic Ataxias (SA) are a group of neurodegenerative disorders with combined pyramidal and cerebellar system affection, leading to an overlap phenotype between Hereditary Spastic Paraplegias (HSP) and Cerebellar Ataxias (CA). Here we describe the ge
Externí odkaz:
https://doaj.org/article/35164e496c7f48dfb74c6ff09bbca69a
Autor:
Matias Wagner, Daniel P. S. Osborn, Ina Gehweiler, Maike Nagel, Ulrike Ulmer, Somayeh Bakhtiari, Rim Amouri, Reza Boostani, Faycal Hentati, Maryam M. Hockley, Benedikt Hölbling, Thomas Schwarzmayr, Ehsan Ghayoor Karimiani, Christoph Kernstock, Reza Maroofian, Wolfgang Müller-Felber, Ege Ozkan, Sergio Padilla-Lopez, Selina Reich, Jennifer Reichbauer, Hossein Darvish, Neda Shahmohammadibeni, Abbas Tafakhori, Katharina Vill, Stephan Zuchner, Michael C. Kruer, Juliane Winkelmann, Yalda Jamshidi, Rebecca Schüle
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-13 (2019)
Disturbances in IP3 receptor-mediated release of Ca2+ from the endoplasmatic reticulum are associated with neurodegenerative disease. Here, the authors identify in four families with hereditary spastic paraplegia biallelic mutations in RNF170 that as
Externí odkaz:
https://doaj.org/article/7bd71eb6cd81404fb55734268f8473e9
Publikováno v:
Stem Cell Research, Vol 49, Iss , Pp 102059- (2020)
Bi-allelic loss-of-function mutations in the gene encoding the motor protein KIF1C are associated with Hereditary Spastic Paraplegia (HSP) type SPG58, a slowly progressive neurodegenerative motoneuron disease. The biological role of KIF1C is incomple
Externí odkaz:
https://doaj.org/article/b57ece3dcdc4429f8d69ceac27780be4
Autor:
Maike Nagel, Jennifer Reichbauer, Judith Böhringer, Yvonne Schelling, Inge Krägeloh-Mann, Rebecca Schüle, Ulrike Ulmer
Publikováno v:
Stem Cell Research, Vol 35, Iss , Pp - (2019)
Gaucher disease is the most common autosomal recessive lysosomal storage disorder, caused by mutations in the β-glucocerebrosidase gene GBA. Here we describe generation of iPSC from skin-derived fibroblasts from two unrelated individuals with neuron
Externí odkaz:
https://doaj.org/article/7c62dd1754374b5ea81da912cf4c3cf5
Autor:
Maike Nagel, Marvin Noß, Jishu Xu, Nicola Horn, Marius Ueffing, Karsten Boldt, Rebecca Schüle
Publikováno v:
RNA 29(1), 55-68 (2023). doi:10.1261/rna.079426.122
Neurons critically depend on regulated RNA localization and tight control of spatio-temporal gene expression to maintain their morphological and functional integrity. Mutations in the kinesin motor protein gene KIF1C cause Hereditary Spastic Parapleg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68bd495fce26c1d7d8e8aad3807673c2
https://doi.org/10.1101/2022.08.24.505074
https://doi.org/10.1101/2022.08.24.505074
Autor:
Cathrine R. Carlson, Christian Johannes Gloeckner, Eleonora Aronica, Jeannette Hübener-Schmid, Ann-Christin Krahl, Stefan Hauser, Olaf Riess, Ludger Schöls, Maike Nagel, Giambattista Guaitoli, Huu P. Nguyen, Matthias Golla, Stefanie N. Hayer, Jonasz J. Weber, Sebastian Samer, Pimthanya Wanichawan
Publikováno v:
Brain 140(5), 1280-1299 (2017). doi:10.1093/brain/awx039
Brain, 140(5), 1280-1299. Oxford University Press
Brain, 140(5), 1280-1299. Oxford University Press
Ataxin-3, the disease protein in Machado-Joseph disease, is known to be proteolytically modified by various enzymes including two major families of proteases, caspases and calpains. This processing results in the generation of toxic fragments of the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::727e9d9e95ffaf4bd1fbe7b35cec73f7
https://doi.org/10.1093/brain/awx039
https://doi.org/10.1093/brain/awx039
Autor:
Midea Malena Ortiz-Rios, Julian Hofmann, Jonasz J. Weber, Olaf Riess, Huu Phuc Nguyen, Simon Johannes Kloock, Maike Nagel
Publikováno v:
Pathogenic mechanisms.
Background Deciphering the molecular pathology of Huntington disease is of particular importance, not only for a better understanding of this neurodegenerative disease, but also to identify potential therapeutic targets. The disease protein huntingti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0d94269dfe9f947be0f1daf2506e8f80
https://doi.org/10.1136/jnnp-2018-ehdn.22
https://doi.org/10.1136/jnnp-2018-ehdn.22
Autor:
Simon Johannes Kloock, Jonasz J. Weber, Olaf Riess, Midea Malena Ortiz-Rios, Huu Phuc Nguyen, Julian Hofmann, Maike Nagel
Publikováno v:
Neuropharmacology. 133
Deciphering the molecular pathology of Huntington disease is of particular importance, not only for a better understanding of this neurodegenerative disease, but also to identify potential therapeutic targets. The polyglutamine-expanded disease prote
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::185691b4a2d2a79cd4a417d55350e255
https://pubmed.ncbi.nlm.nih.gov/29355642
https://pubmed.ncbi.nlm.nih.gov/29355642
Autor:
Jennifer Reichbauer, Neda Shahmohammadibeni, Matias Wagner, Selina Reich, Rebecca Schüle, Sergio Padilla-Lopez, Rim Amouri, Wolfgang Müller-Felber, Ina Gehweiler, Christoph Kernstock, Michael C. Kruer, Ege Ozkan, Katharina Vill, Daniel P. S. Osborn, Ehsan Ghayoor Karimiani, Benedikt Hölbling, Yalda Jamshidi, Somayeh Bakhtiari, Maryam M. Hockley, Reza Maroofian, Stephan Züchner, Ulrike Ulmer, Fayçal Hentati, Thomas Schwarzmayr, Hossein Darvish, Abbas Tafakhori, Juliane Winkelmann, Reza Boostani, Maike Nagel
Publikováno v:
Nature Communications
Nat. Commun. 10:4790 (2019)
Nature Communications, Vol 10, Iss 1, Pp 1-13 (2019)
Nature Communications 10(1), 4790 (2019). doi:10.1038/s41467-019-12620-9
Nat. Commun. 10:4790 (2019)
Nature Communications, Vol 10, Iss 1, Pp 1-13 (2019)
Nature Communications 10(1), 4790 (2019). doi:10.1038/s41467-019-12620-9
Alterations of Ca2+ homeostasis have been implicated in a wide range of neurodegenerative diseases. Ca2+ efflux from the endoplasmic reticulum into the cytoplasm is controlled by binding of inositol 1,4,5-trisphosphate to its receptor. Activated inos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee009ed83ce9a4eb849d19c5892f436c