Results 31 to 40 of about 9,196 (170)

Huntingtin with an expanded polyglutamine repeat affects the Jab1-p27(Kip1) pathway

Neurobiology of Disease, 2012
Expansion of polyglutamine repeats is the cause of at least nine inherited human neurodegenerative disorders, including Huntington's disease (HD). It is widely accepted that deregulation of the transcriptional coactivator CBP by expanded huntingtin (htt)
S.Y. Cong, B.A. Pepers, T.T. Zhou, H. Kerkdijk, R.A. Roos, G.J. van Ommen, J.C. Dorsman   +6 more
doaj   +1 more source

Activation of p38MAPK contributes to expanded polyglutamine-induced cytotoxicity.

PLoS ONE, 2008
BackgroundThe signaling pathways that may modulate the pathogenesis of diseases induced by expanded polyglutamine proteins are not well understood.Methodologies/principal findingsHerein we demonstrate that expanded polyglutamine protein cytotoxicity is ...
Maria Tsirigotis, R Mitchell Baldwin, Matthew Y Tang, Ian A J Lorimer, Douglas A Gray   +4 more
doaj   +1 more source

Therapeutic gene silencing strategies for polyglutamine disorders

Trends in Genetics, 2010
Dominantly inherited polyglutamine disorders are chronic neurodegenerative diseases therapeutically amenable to gene-specific silencing strategies. Several compelling nucleic acid-based approaches have recently been developed to block the expression of mutant proteins and prevent toxic neurodegenerative sequelae.
Scholefield, J, Wood, M
openaire   +2 more sources

Peripheral Oxidative Stress Biomarkers in Spinocerebellar Ataxia Type 3/Machado–Joseph Disease

Frontiers in Neurology, 2017
ObjectivesSpinocerebellar ataxia type 3/Machado–Joseph disease (SCA3/MJD) is a polyglutamine disorder with no current disease-modifying treatment. Conformational changes in mutant ataxin-3 trigger different pathogenic cascades, including reactive oxygen ...
Adriano M. de Assis, Adriano M. de Assis, Jonas Alex Morales Saute, Jonas Alex Morales Saute, Jonas Alex Morales Saute, Jonas Alex Morales Saute, Jonas Alex Morales Saute, Aline Longoni, Clarissa Branco Haas, Vitor Rocco Torrez, Andressa Wigner Brochier, Gabriele Nunes Souza, Gabriel Vasata Furtado, Gabriel Vasata Furtado, Tailise Conte Gheno, Tailise Conte Gheno, Aline Russo, Thais Lampert Monte, Thais Lampert Monte, Raphael Machado Castilhos, Artur Schumacher-Schuh, Artur Schumacher-Schuh, Rui D’Avila, Karina Carvalho Donis, Carlos Roberto de Mello Rieder, Carlos Roberto de Mello Rieder, Carlos Roberto de Mello Rieder, Diogo Onofre Souza, Diogo Onofre Souza, Suzi Camey, Suzi Camey, Vanessa Bielefeldt Leotti, Vanessa Bielefeldt Leotti, Laura Bannach Jardim, Laura Bannach Jardim, Laura Bannach Jardim, Laura Bannach Jardim, Laura Bannach Jardim, Luis Valmor Portela, Luis Valmor Portela   +39 more
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Targeting several CAG expansion diseases by a single antisense oligonucleotide. [PDF]

PLoS ONE, 2011
To date there are 9 known diseases caused by an expanded polyglutamine repeat, with the most prevalent being Huntington's disease. Huntington's disease is a progressive autosomal dominant neurodegenerative disorder for which currently no therapy is ...
Melvin M Evers, Barry A Pepers, Judith C T van Deutekom, Susan A M Mulders, Johan T den Dunnen, Annemieke Aartsma-Rus, Gert-Jan B van Ommen, Willeke M C van Roon-Mom   +7 more
doaj   +1 more source

Antisense oligonucleotide therapeutics in neurodegenerative diseases: the case of polyglutamine disorders [PDF]

Brain, 2019
AbstractPolyglutamine (polyQ) disorders are a group of nine neurodegenerative diseases that share a common genetic cause, which is an expansion of CAG repeats in the coding region of the causative genes that are otherwise unrelated. The trinucleotide expansion encodes for an expanded polyQ tract in the respective proteins, resulting in toxic gain-of ...
Ana C Silva, Diana D Lobo, Inês M Martins, Sara M Lopes, Carina Henriques, Sónia P Duarte, Jean-Cosme Dodart, Rui Jorge Nobre, Luis Pereira de Almeida   +8 more
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The Ins and Outs of a Polyglutamine Neurodegenerative Disease: Spinocerebellar Ataxia Type 1 (SCA1)

Neurobiology of Disease, 2000
Polyglutamine neurodegenerative disorders are characterized by the expansion of a glutamine tract within the mutant disease-causing protein.
Harry T. Orr
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Cryo-electron tomography provides topological insights into mutant huntingtin exon 1 and polyQ aggregates

Communications Biology, 2021
Galaz-Montoya et al. report nanometer-resolution 3D cryo-electron tomography structures of mutant huntingtin (mHTT) and polyglutamine-only (polyQ) filaments in large aggregates free of stains, fixatives, tags, or dehydration artifacts.
Jesús G. Galaz-Montoya, Sarah H. Shahmoradian, Koning Shen, Judith Frydman, Wah Chiu   +4 more
doaj   +1 more source

Kynurenine 3-Monooxygenase Interacts with Huntingtin at the Outer Mitochondrial Membrane

Biomedicines, 2022
The flavoprotein kynurenine 3-monooxygenase (KMO) is localised to the outer mitochondrial membrane and catalyses the synthesis of 3-hydroxykynurenine from L-kynurenine, a key step in the kynurenine pathway (KP) of tryptophan degradation.
Aisha M. Swaih, Carlo Breda, Korrapati V. Sathyasaikumar, Natalie Allcock, Mary E. W. Collier, Robert P. Mason, Adam Feasby, Federico Herrera, Tiago F. Outeiro, Robert Schwarcz, Mariaelena Repici, Flaviano Giorgini   +11 more
doaj   +1 more source

The Role for Alterations in Neuronal Activity in the Pathogenesis of Polyglutamine Repeat Disorders [PDF]

Neurotherapeutics, 2014
Polyglutamine diseases are a class of neurodegenerative diseases that share an expansion of a glutamine-encoding CAG tract in the respective disease genes as a central hallmark. In all of these diseases there is progressive degeneration in a select subset of neurons, and the mechanisms behind this degeneration remain unclear.
Ravi, Chopra, Vikram G, Shakkottai
openaire   +2 more sources