Zobrazeno 1 - 10
of 42
pro vyhledávání: '"Jonasz J, Weber"'
Autor:
Anna S. Sowa, Taissia G. Popova, Tina Harmuth, Jonasz J. Weber, Priscila Pereira Sena, Jana Schmidt, Jeannette Hübener-Schmid, Thorsten Schmidt
Publikováno v:
Molecular Brain, Vol 14, Iss 1, Pp 1-10 (2021)
Abstract Spinocerebellar ataxia type 3 (SCA3) is a rare neurodegenerative disorder resulting from an aberrant expansion of a polyglutamine stretch in the ataxin-3 protein and subsequent neuronal death. The underlying intracellular signaling pathways
Externí odkaz:
https://doaj.org/article/dd3a817d8b094125ab52f24cb6be995d
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, Vol 23, Iss 11, p 5933 (2022)
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://doaj.org/article/5e2ffc71cb7a477db07d22055dd626de
Autor:
Elisabeth Singer, Carolin Walter, Jonasz J. Weber, Ann-Christin Krahl, Ulrike A. Mau-Holzmann, Nadine Rischert, Olaf Riess, Laura E. Clemensson, Huu P. Nguyen
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-13 (2017)
Abstract Huntington disease is a fatal neurodegenerative disorder caused by a CAG repeat expansion in the gene encoding the huntingtin protein. Expression of the mutant protein disrupts various intracellular pathways and impairs overall cell function
Externí odkaz:
https://doaj.org/article/baca3f0edb594d1fb92d80a01ad67420
Autor:
Elisabeth Singer, Lilit Hunanyan, Magda M. Melkonyan, Jonasz J. Weber, Lusine Danielyan, Huu Phuc Nguyen
Publikováno v:
Pharmaceuticals, Vol 14, Iss 3, p 257 (2021)
Huntington’s disease (HD) is a monogenetic neurodegenerative disorder characterized by the accumulation of polyglutamine-expanded huntingtin (mHTT). There is currently no cure, and therefore disease-slowing remedies are sought to alleviate symptoms
Externí odkaz:
https://doaj.org/article/84cac017ab2c42369e0a0807e2db2a90
Autor:
Tina Harmuth, Caroline Prell-Schicker, Jonasz J. Weber, Frank Gellerich, Claudia Funke, Stefan Drießen, Janine C. D. Magg, Guido Krebiehl, Hartwig Wolburg, Stefanie N. Hayer, Stefan Hauser, Rejko Krüger, Ludger Schöls, Olaf Riess, Jeannette Hübener-Schmid
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 11 (2018)
Alterations in mitochondrial morphology and function have been linked to neurodegenerative diseases, including Parkinson disease, Alzheimer disease and Huntington disease. Metabolic defects, resulting from dysfunctional mitochondria, have been report
Externí odkaz:
https://doaj.org/article/8891dd0b150d49d29eda7cba9531ee6b
Autor:
Hübener-Schmid, Tina Harmuth, Jonasz J. Weber, Anna J. Zimmer, Anna S. Sowa, Jana Schmidt, Julia C. Fitzgerald, Ludger Schöls, Olaf Riess, Jeannette
Publikováno v:
International Journal of Molecular Sciences; Volume 23; Issue 11; Pages: 5933
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=multidiscipl::306958c742a7a0e14906a5456d7c25c7
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9bc3418f7a9675f288b55130bf1c68a
https://doi.org/10.1093/hmg/ddaa010
https://doi.org/10.1093/hmg/ddaa010
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:
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::850e1e42f506abfc7e7a1e2276b8f487
https://doi.org/10.1073/pnas.2025810118
https://doi.org/10.1073/pnas.2025810118
Autor:
Priscila, Pereira Sena, Jonasz J, Weber, Maxinne, Watchon, Katherine J, Robinson, Zinah, Wassouf, Stefan, Hauser, Jacob, Helm, Mahkameh, Abeditashi, Jana, Schmidt, Jeannette, Hübener-Schmid, Ludger, Schöls, Angela S, Laird, Olaf, Riess, Thorsten, Schmidt
Publikováno v:
Proc Natl Acad Sci U S A
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7026cc5f2ab83b932dc7ae9917f113ee
https://pubmed.ncbi.nlm.nih.gov/34785590
https://pubmed.ncbi.nlm.nih.gov/34785590