Zobrazeno 1 - 10
of 13
pro vyhledávání: '"genetics [Machado-Joseph Disease]"'
Autor:
Jennifer Kollmer, Markus Weiler, Georges Sam, Jennifer Faber, John M. Hayes, Sabine Heiland, Martin Bendszus, Wolfgang Wick, Heike Jacobi
Publikováno v:
European journal of neurology 29(6), 1782-1790 (2022). doi:10.1111/ene.15305
Knowledge about the exact underlying pathophysiological changes involved in the genesis and progression of spinocerebellar ataxia type 3 (SCA3) is limited. Lower extremity peripheral nerve lesions in clinically, genetically and electrophysiologically
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8dd5f58e152b906015ac361f883473d7
https://doi.org/10.1111/ene.15305
https://doi.org/10.1111/ene.15305
Autor:
Hector Garcia‐Moreno, Mercedes Prudencio, Gilbert Thomas‐Black, Nita Solanky, Karen R. Jansen‐West, Rana Hanna AL‐Shaikh, Amanda Heslegrave, Henrik Zetterberg, Magda M. Santana, Luis Pereira de Almeida, Ana Vasconcelos‐Ferreira, Cristina Januário, Jon Infante, Jennifer Faber, Thomas Klockgether, Kathrin Reetz, Mafalda Raposo, Ana F. Ferreira, Manuela Lima, Ludger Schöls, Matthis Synofzik, Jeannette Hübener‐Schmid, Andreas Puschmann, Sorina Gorcenco, Zbigniew K. Wszolek, Leonard Petrucelli, Paola Giunti
Publikováno v:
Eur J Neurol . 2022 Aug;29(8):2439-2452
European journal of neurology 29(8), 2439-2452 (2022). doi:10.1111/ene.15373
European journal of neurology 29(8), 2439-2452 (2022). doi:10.1111/ene.15373
Background and purpose: Clinical trials in spinocerebellar ataxia type 3 (SCA3) will require biomarkers for use as outcome measures. Methods: To evaluate total tau (t-tau), glial fibrillary acidic protein (GFAP), ubiquitin carboxy-terminal hydrolase
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15787867b0753f29d6406738bfb2c643
https://pubmed.ncbi.nlm.nih.gov/35478426
https://pubmed.ncbi.nlm.nih.gov/35478426
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:
Mafalda Raposo, Conceição Bettencourt, Ana Rosa Vieira Melo, Ana F. Ferreira, Isabel Alonso, Paulo Silva, João Vasconcelos, Teresa Kay, Maria Luiza Saraiva-Pereira, Marta D. Costa, Daniela Vilasboas-Campos, Bruno Filipe Bettencourt, Jácome Bruges-Armas, Henry Houlden, Peter Heutink, Laura Bannach Jardim, Jorge Sequeiros, Patrícia Maciel, Manuela Lima
Publikováno v:
Neurobiology of disease 162, 105578 (2022). doi:10.1016/j.nbd.2021.105578
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Neurobiology of Disease, Vol 162, Iss, Pp 105578-(2022)
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Neurobiology of Disease, Vol 162, Iss, Pp 105578-(2022)
Funding Information: This work was funded by FEDER - Fundo Europeu de Desenvolvimento Regional funds through the COMPETE 2020 - Operacional Programme for Competitiveness and Internationalisation (POCI), Portugal 2020 , and by Portuguese funds through
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4201fe240bc3422a5890fb54ec2ae59c
https://hdl.handle.net/10362/129676
https://hdl.handle.net/10362/129676
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:
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:
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e63e8d8ca572d13552faaf5d9e8e356
https://pubmed.ncbi.nlm.nih.gov/30664869
https://pubmed.ncbi.nlm.nih.gov/30664869
Publikováno v:
MicroRNA 8(1), 76-85 (2018). doi:10.2174/2211536607666180821162403
Background: Spinocerebellar ataxia type 3 (SCA3), the most common spinocerebellar ataxia, is caused by a polyglutamine (polyQ) expansion in the protein ataxin-3 (ATXN3). Silencing the expression of polyQ-expanded ATXN3 rescues the cellular disease ph
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d5ecaf4ba17989f8e6a01f4496a4f01
https://pubmed.ncbi.nlm.nih.gov/30147021
https://pubmed.ncbi.nlm.nih.gov/30147021
Autor:
Stefanie Nicole, Hayer, Yvonne, Schelling, Jeannette, Huebener-Schmid, Jonasz Jeremiasz, Weber, Stefan, Hauser, Ludger, Schöls
Publikováno v:
Stem cell research 30, 171-174 (2018). doi:10.1016/j.scr.2018.06.006
Stem Cell Research, Vol 30, Iss, Pp 171-174 (2018)
Stem Cell Research, Vol 30, Iss, Pp 171-174 (2018)
A skin biopsy of a patient with spinocerebellar ataxia type 3 (SCA3, also known as Machado-Joseph disease (MJD)) caused by a CAG trinucleotide repeat expansion in the ATXN3 gene, was used to generate an induced pluripotent stem cell line, HIHCNi002-A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::ef7bd572621ed83661ff836e37324473
https://pub.dzne.de/record/140083
https://pub.dzne.de/record/140083