Results 31 to 40 of about 19,027,943 (182)

Toxicity and aggregation of the polyglutamine disease protein, ataxin-3 is regulated by its binding to VCP/p97 in Drosophila melanogaster [PDF]

Neurobiology of Disease, 2018
Among the nine dominantly inherited, age-dependent neurodegenerative diseases caused by abnormal expansion in the polyglutamine (polyQ) repeat of otherwise unrelated proteins is Spinocerebellar Ataxia Type 3 (SCA3).
Gorica Ristic, Joanna R. Sutton, Kozeta Libohova, Sokol V. Todi   +3 more
doaj   +2 more sources

Retrotransposition Events Shape the Evolution of the Ataxin-3 Gene Family in Primates. [PDF]

Genome Biol Evol
Evolutionary studies of disease-associated genes provide crucial insights into pathological mechanisms and potential therapeutic targets. Polyglutamine spinocerebellar ataxias (SCAs) are human neurodegenerative diseases caused by toxic expanded CAG ...
Felício D, Martins IM, Pinto A, Sequeiros J, Amorim A, Lopes AM, Seixas S, Martins S.   +7 more
europepmc   +2 more sources

The Deubiquitinating Enzyme Ataxin-3 Regulates Ciliogenesis and Phagocytosis in the Retina. [PDF]

Cell Rep, 2020
SUMMARY Expansion of a CAG repeat in ATXN3 causes the dominant polyglutamine disease spinocerebellar ataxia type 3 (SCA3), yet the physiological role of ATXN3 remains unclear.
Toulis V, García-Monclús S, de la Peña-Ramírez C, Arenas-Galnares R, Abril JF, Todi SV, Khan N, Garanto A, Costa MDC, Marfany G.   +9 more
europepmc   +2 more sources

Ataxin-3 Links NOD2 and TLR2 Mediated Innate Immune Sensing and Metabolism in Myeloid Cells [PDF]

Frontiers in Immunology, 2019
The interplay between NOD2 and TLR2 following recognition of components of the bacterial cell wall peptidoglycan is well-established, however their role in redirecting metabolic pathways in myeloid cells to degrade pathogens and mount antigen ...
Thomas P. Chapman, Daniele Corridoni, Seiji Shiraishi, Sumeet Pandey, Anna Aulicino, Simon Wigfield, Maria do Carmo Costa, Marie-Laëtitia Thézénas, Henry Paulson, Roman Fischer, Benedikt M. Kessler, Alison Simmons   +11 more
doaj   +2 more sources

Allosteric Modulation of Pathological Ataxin‐3 Aggregation: A Path to Spinocerebellar Ataxia Type‐3 Therapies [PDF]

Advanced Science
Spinocerebellar ataxia type 3 (SCA3) is a rare neurodegenerative disorder caused by the expansion of a polyglutamine (polyQ) repeat in ataxin‐3 (Atx3) for which no disease‐modifying therapies are available.
Alexandra Silva, Sara Duarte‐Silva, Pedro M. Martins, Beatriz Rodrigues, Débora Serrenho, Daniela Vilasboas‐Campos, Andreia Teixeira‐Castro, Julio Vieyto‐Nuñez, Joel Mieres‐Perez, Francisco Figueiredo, Martyna Podlasiak, Tatiana Van‐der‐Kellen, Joana Fraga, James Noble, Carter Lantz, Niki Sepanj, Daniela Monteiro‐Fernandes, Sara Guerreiro, Andreia Neves‐Carvalho, Joana Pereira‐Sousa, Frank‐Gerrit Klärner, Thomas Schrader, Joseph A. Loo, Annalisa Pastore, Elsa Sanchez‐Garcia, Gal Bitan, Ana Luísa Carvalho, Patrícia Maciel, Sandra Macedo‐Ribeiro   +28 more
doaj   +2 more sources

The p97-Ataxin 3 complex regulates homeostasis of the DNA damage response E3 ubiquitin ligase RNF8. [PDF]

EMBO J, 2019
The E3 ubiquitin ligase RNF8 (RING finger protein 8) is a pivotal enzyme for DNA repair. However, RNF8 hyper‐accumulation is tumour‐promoting and positively correlates with genome instability, cancer cell invasion, metastasis and poor patient prognosis ...
Singh AN, Oehler J, Torrecilla I, Kilgas S, Li S, Vaz B, Guérillon C, Fielden J, Hernandez-Carralero E, Cabrera E, Tullis ID, Meerang M, Barber PR, Freire R, Parsons J, Vojnovic B, Kiltie AE, Mailand N, Ramadan K.   +18 more
europepmc   +2 more sources

Mitochondrial Morphology, Function and Homeostasis Are Impaired by Expression of an N-terminal Calpain Cleavage Fragment of Ataxin-3 [PDF]

Frontiers in Molecular Neuroscience, 2018
Alterations in mitochondrial morphology and function have been linked to neurodegenerative diseases, including Parkinson disease, Alzheimer disease and Huntington disease.
Tina Harmuth, Tina Harmuth, Tina Harmuth, Caroline Prell-Schicker, Jonasz J. Weber, Jonasz J. Weber, Frank Gellerich, Claudia Funke, Stefan Drießen, Janine C. D. Magg, Janine C. D. Magg, Guido Krebiehl, Hartwig Wolburg, Stefanie N. Hayer, Stefanie N. Hayer, Stefan Hauser, Rejko Krüger, Rejko Krüger, Ludger Schöls, Ludger Schöls, Olaf Riess, Olaf Riess, Jeannette Hübener-Schmid, Jeannette Hübener-Schmid   +23 more
doaj   +2 more sources

Differential toxicity of ataxin-3 isoforms in Drosophila models of Spinocerebellar Ataxia Type 3 [PDF]

Neurobiology of Disease, 2019
The most commonly inherited dominant ataxia, Spinocerebellar Ataxia Type 3 (SCA3), is caused by a CAG repeat expansion that encodes an abnormally long polyglutamine (polyQ) repeat in the disease protein ataxin-3, a deubiquitinase.
Sean L. Johnson, Jessica R. Blount, Kozeta Libohova, Bedri Ranxhi, Henry L. Paulson, Wei-Ling Tsou, Sokol V. Todi   +6 more
doaj   +2 more sources

Identification and functional dissection of localization signals within ataxin-3

Neurobiology of Disease, 2009
Spinocerebellar ataxia type 3 (SCA3) or Machado–Joseph disease (MJD) belongs to a group of autosomal dominant neurodegenerative diseases, which are caused by the expansion of a polyglutamine repeat in the affected protein, in this case ataxin-3. Ataxin-3
Paul Michel Aloyse Antony, Simone Mäntele, Phillip Mollenkopf, Jana Boy, Ralph H. Kehlenbach, Olaf Riess, Thorsten Schmidt   +6 more
doaj   +5 more sources

Divalproex sodium modulates nuclear localization of ataxin-3 and prevents cellular toxicity caused by expanded ataxin-3. [PDF]

CNS Neurosci Ther, 2018
SummaryBackground & AimsSpinocerebellar ataxia type 3 (SCA3), also known as Machado‐Joseph disease (MJD), is an autosomal dominantly inherited neurodegenerative disorder and the most common form of SCA worldwide. It is caused by the expansion of a polyglutamine (polyQ) tract in the ataxin‐3 protein. Nuclear localization of the affected protein is a
Wang ZJ, Hanet A, Weishäupl D, Martins IM, Sowa AS, Riess O, Schmidt T.   +6 more
europepmc   +5 more sources