Výsledky vyhledávání - "metabolism [Ataxin-3]"

Calpain-1 ablation partially rescues disease-associated hallmarks in models of Machado-Joseph disease

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

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

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Mitochondrial Dysfunction in Spinocerebellar Ataxia Type 3 Is Linked to VDAC1 Deubiquitination

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

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Pathophysiological interplay between O -GlcNAc transferase and the Machado–Joseph disease protein ataxin-3

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

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A combinatorial approach to identify calpain cleavage sites in the Machado-Joseph disease protein ataxin-3

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

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

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Physiological and pathophysiological characteristics of ataxin-3 isoforms

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

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The Role of MicroRNAs in Spinocerebellar Ataxia Type 3

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

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Upregulation of miR-25 and miR-181 Family Members Correlates with Reduced Expression of ATXN3 in Lymphocytes from SCA3 Patients

Autor: Bernd O. Evert, Sybille Krauss, Stephanie Weber, Katlynn Carter, Rohit Nalavade

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

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Generation of an induced pluripotent stem cell line from a patient with spinocerebellar ataxia type 3 (SCA3): HIHCNi002-A

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)

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

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The Machado–Joseph Disease Deubiquitinase Ataxin-3 Regulates the Stability and Apoptotic Function of p53

Autor: Xiuli Liu, Min Huang, Yamei Niu, Ullrich Wüllner, Xiaolu Ma, Shu Zhu, Caixia Guo, Qiang Wang, Hongmei Liu, Xiaoling Li, Chunying Liu, Guozhu Ning, Tie-Shan Tang, Ina Schmitt

Publikováno v: PLoS biology 14(11), e2000733 (2016). doi:10.1371/journal.pbio.2000733
PLoS Biology, Vol 14, Iss 11, p e2000733 (2016)
PLoS Biology

As a deubiquitinating enzyme (DUB), the physiological substrates of ataxin-3 (ATX-3) remain elusive, which limits our understanding of its normal cellular function and that of pathogenic mechanism of spinocerebellar ataxia type 3 (SCA3). Here, we ide

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10caaf6ba4ac57cd2087473471d3103b
https://doi.org/10.1371/journal.pbio.2000733

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