Zobrazeno 1 - 10
of 13
pro vyhledávání: '"genetics [Ataxin-3]"'
Autor:
Peter Breuer, Tim Rasche, Xinyu Han, Jennifer Faber, Katrin Haustein, Thomas Klockgether, Ullrich Wüllner
Publikováno v:
Movement disorders 37(5), 1098-1099 (2022). doi:10.1002/mds.28962
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5208e9a909f482c0a3570521d030bc50
Autor:
Tina, Harmuth, Jonasz J, Weber, Anna J, Zimmer, Anna S, Sowa, Jana, Schmidt, Julia C, Fitzgerald, Ludger, Schöls, Olaf, Riess, Jeannette, Hübener-Schmid
Publikováno v:
International journal of molecular sciences 23(11), 5933 (2022). doi:10.3390/ijms23115933 special issue: "Mitochondrial Function in Neurodegenerative Diseases"
Dysfunctional mitochondria are linked to several neurodegenerative diseases. Metabolic defects, a symptom which can result from dysfunctional mitochondria, are also present in spinocerebellar ataxia type 3 (SCA3), also known as Machado–Joseph disea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::a3a1a2a72b3e03bd3536ff286b18bf5c
https://pub.dzne.de/record/164670
https://pub.dzne.de/record/164670
Autor:
Weihua Liao, Jingyi Tang, Yuting Shi, Peng Huirong, Youming Zhang, Xue-wei Zhang, Qiyong Cai, Chunrong Wang, Puzhi Wang, Thomas Klockgether, Hong Jiang, Jennifer Zhang, Shaohui Liu, Linlin Wan, Tianjiao Li, Yun Peng, Na Wan, Chen Zhao, Yue Xie, Hongyu Yuan, Beisha Tang, Rong Qiu
Publikováno v:
Neurology 95(22), e2977-e2987 (2020). doi:10.1212/WNL.0000000000010671
ObjectiveTo investigate serum neurofilament light protein (sNfL) levels in patients with spinocerebellar ataxia type 3 (SCA3) and to determine whether they are associated with disease severity.MethodsThis cross-sectional study enrolled 185 healthy co
Autor:
Eva Haas, Olaf Riess, Athar H. Chishti, Yacine Maringer, Stefan Hauser, Jonasz J. Weber, Jeannette Hübener-Schmid, Nicolas Casadei
Publikováno v:
Hum Mol Genet
Human molecular genetics 29(6), 892-906 (2020). doi:10.1093/hmg/ddaa010
Human molecular genetics 29(6), 892-906 (2020). doi:10.1093/hmg/ddaa010
Proteolytic fragmentation of polyglutamine-expanded ataxin-3 is a concomitant and modifier of the molecular pathogenesis of Machado–Joseph disease (MJD), the most common autosomal dominant cerebellar ataxia. Calpains, a group of calcium-dependent c
Autor:
Mahkameh Abeditashi, Katherine J. Robinson, Jacob Helm, Thorsten Schmidt, Olaf Riess, Jonasz J. Weber, Zinah Wassouf, Stefan Hauser, Ludger Schöls, Jana Schmidt, Maxinne Watchon, Angela S. Laird, Priscila Pereira Sena, Jeannette Hübener-Schmid
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America 118(47), e2025810118 (2021). doi:10.1073/pnas.2025810118
Aberrant O-GlcNAcylation, a protein posttranslational modification defined by the O-linked attachment of the monosaccharide N-acetylglucosamine (O-GlcNAc), has been implicated in neurodegenerative diseases. However, although many neuronal proteins ar
Autor:
Matthis Synofzik, Holger Hengel, Kathrin Gonsior, Sandra Kuhs, Stefan Hauser, Thomas Klockgether, Jeannette Hübener-Schmid, Melanie Gansel, Dorothea Schumann, Olaf Rieß, Tim W. Rattay, Gabriele Anna Kaucher, Alexandra Durr, Sylvie Forlani, Patrik Pelz, Ludger Schöls
Publikováno v:
Journal of Neurology
Journal of Neurology, Springer Verlag, 2021, 268 (4), pp.1304-1315. ⟨10.1007/s00415-020-10274-y⟩
Journal of neurology 268(4), 1304-1315 (2020). doi:10.1007/s00415-020-10274-y
Journal of Neurology, Springer Verlag, 2021, 268 (4), pp.1304-1315. ⟨10.1007/s00415-020-10274-y⟩
Journal of neurology 268(4), 1304-1315 (2020). doi:10.1007/s00415-020-10274-y
In view of upcoming clinical trials, quantitative molecular markers accessible in peripheral blood are of critical importance as prognostic or pharmacodynamic markers in genetic neurodegenerative diseases such as Spinocerebellar Ataxia Type 3 (SCA3),
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f23884e72f7dee1d732c0b19298fcdbf
https://hal.sorbonne-universite.fr/hal-03222950/file/Gonsior2021_Article_PolyQ-expandedAtaxin-3ProteinL.pdf
https://hal.sorbonne-universite.fr/hal-03222950/file/Gonsior2021_Article_PolyQ-expandedAtaxin-3ProteinL.pdf
Autor:
Lang He, Yuting Shi, Lijing Lei, Linlin Wan, Shang Wang, Yiqing Gong, Qi Deng, Zhichao Tang, Zhao Chen, Na Wan, Xuan Hou, Yun Peng, Mingjie Liu, Jinchen Li, Guangdong Zou, Beisha Tang, Rong Qiu, Thomas Klockgether, Lu Shen, Yue Xie, Zhe Long, Kun Xia, Huirong Peng, Hong Jiang, Hongyu Yuan, Chao Chen, Linliu Peng, Chunrong Wang
Publikováno v:
Neurology 96(23), e2885-e2895 (2021). doi:10.1212/WNL.0000000000012068
ObjectivesThe aim of this study was to develop an appropriate parametric survival model to predict patient's age at onset (AAO) for spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) populations from mainland China.MethodsWe compared the
Autor:
Sandra Maria Dold, Barbara Peixoto Pinheiro, Jana Schmidt, Corinna Ruess, Olaf Riess, Thorsten Schmidt, Felix von Zweydorf, Christian Johannes Gloeckner, Juliane Schneider, Daniel Weishäupl
Publikováno v:
The journal of biological chemistry 294(2), 644-661 (2018). doi:10.1074/jbc.RA118.005801
Ataxin-3 is a deubiquitinating enzyme and the affected protein in the neurodegenerative disorder Machado-Joseph disease (MJD). The ATXN3 gene is alternatively spliced, resulting in protein isoforms that differ in the number of ubiquitin-interacting m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5a18504991cf93c6b173caa972b2b9f
https://pub.dzne.de/record/140440
https://pub.dzne.de/record/140440
Autor:
Bernd O. Evert, Sybille Krauss
Publikováno v:
Journal of molecular biology 431(9), 1729-1742 (2019). doi:10.1016/j.jmb.2019.01.019
More than 90% of the human genome are transcribed as non-coding RNAs. While it is still under debate if all these non-coding transcripts are functional, there is emerging evidence that RNA has several important functions in addition to coding for pro
Autor:
Massimo Pandolfo, Sylvia Boesch, Laszlo Baliko, Thomas Klockgether, Sandra Szymanski, Ludger Schöls, Alessandro Filla, Anna Sulek, Arron Cook, Bart P.C. van de Warrenburg, Heike Jacobi, Maria Rakowicz, Jun Suk Kang, Holger Hengel, Michael H Parkinson, Dagmar Timmann, Anna Sobanska, Jon Infante, Alexis Brice, Peter Bauer, Jörg B. Schulz, Lorenzo Nanetti, Sophie Tezenas du Montcel, Antonella Antenora, Cecilia Marelli, Alexandra Durr, Paola Giunti, Robyn Labrum, Marta Panzeri, Béla Melegh, Alhassane Diallo, Perrine Charles, Caterina Mariotti, Sonia Molho, José Berciano, Tanja Schmitz-Hübsch
Publikováno v:
The lancet / Neurology 14(11), 1101-1108 (2015). doi:10.1016/S1474-4422(15)00202-1
Lancet Neurology, 14, 11, pp. 1101-8
Lancet Neurology, 14, 1101-8
Lancet Neurology, 14, 11, pp. 1101-8
Lancet Neurology, 14, 1101-8
Item does not contain fulltext BACKGROUND: Spinocerebellar ataxias are dominantly inherited neurodegenerative diseases. As potential treatments for these diseases are being developed, precise knowledge of their natural history is needed. We aimed to