Results 41 to 50 of about 9,196 (170)

Natural Genetic Variation in Yeast Reveals That NEDD4 Is a Conserved Modifier of Mutant Polyglutamine Aggregation

G3: Genes, Genomes, Genetics, 2018
A feature common to late onset proteinopathic disorders is an accumulation of toxic protein conformers and aggregates in affected tissues. In the search for potential drug targets, many studies used high-throughput screens to find genes that modify the ...
Theodore W. Peters, Christopher S. Nelson, Akos A. Gerencser, Kathleen J. Dumas, Brandon Tavshanjian, Kyu Chul Chang, Gordon J. Lithgow, Robert E. Hughes   +7 more
doaj   +1 more source

Degenerate codon mixing for PCR-based manipulation of highly repetitive sequences

BMC Research Notes, 2018
Objective Repeat expansion of polyglutamine tracks leads to a group of inherited human neurodegenerative disorders. Studying such repetitive sequences is required to gain insight into the pathophysiology of these diseases.
Dhanushika Ratnayake, Morgan Newman, Michael Lardelli   +2 more
doaj   +1 more source

Nuclear accumulation of polyglutamine disease proteins and neuropathology

Molecular Brain, 2009
There are nine inherited neurodegenerative disorders caused by polyglutamine (polyQ) expansion in various disease proteins. Although these polyglutamine proteins have different functions and are localized in different subcellular regions, all the polyQ ...
Havel Lauren S, Li Shihua, Li Xiao-Jiang
doaj   +1 more source

microRNA dysregulation in polyglutamine toxicity of TATA-box binding protein is mediated through STAT1 in mouse neuronal cells

Journal of Neuroinflammation, 2017
Background Polyglutamine diseases constitute a class of neurodegenerative disorders associated with expansion of the cytosine-adenine-guanine (CAG) triplet, in protein coding genes.
Reema Roshan, Ashwani Choudhary, Aksheev Bhambri, Bhawani Bakshi, Tanay Ghosh, Beena Pillai   +5 more
doaj   +1 more source

Gene Deregulation and Underlying Mechanisms in Spinocerebellar Ataxias With Polyglutamine Expansion

Frontiers in Neuroscience, 2020
Polyglutamine spinocerebellar ataxias (polyQ SCAs) include SCA1, SCA2, SCA3, SCA6, SCA7, and SCA17 and constitute a group of adult onset neurodegenerative disorders caused by the expansion of a CAG repeat sequence located within the coding region of ...
Anna Niewiadomska-Cimicka, Anna Niewiadomska-Cimicka, Anna Niewiadomska-Cimicka, Anna Niewiadomska-Cimicka, Antoine Hache, Antoine Hache, Antoine Hache, Antoine Hache, Yvon Trottier, Yvon Trottier, Yvon Trottier, Yvon Trottier   +11 more
doaj   +1 more source

Polyglutamine expansion accelerates the dynamics of ataxin-1 and does not result in aggregate formation. [PDF]

PLoS ONE, 2008
BackgroundPolyglutamine expansion disorders are caused by an expansion of the polyglutamine (polyQ) tract in the disease related protein, leading to severe neurodegeneration.
Hilde A Krol, Przemek M Krawczyk, Klazien S Bosch, Jacob A Aten, Elly M Hol, Eric A Reits   +5 more
doaj   +1 more source

Altered Metabolic Signaling and Potential Therapies in Polyglutamine Diseases

Metabolites
Polyglutamine diseases comprise a cluster of genetic disorders involving neurodegeneration and movement disabilities. In polyglutamine diseases, the target proteins become aberrated due to polyglutamine repeat formation.
Alisha Vohra, Patrick Keefe, Prasanth Puthanveetil   +2 more
doaj   +1 more source

Large-scale screen for modifiers of ataxin-3-derived polyglutamine-induced toxicity in Drosophila. [PDF]

PLoS ONE, 2012
Polyglutamine (polyQ) diseases represent a neuropathologically heterogeneous group of disorders. The common theme of these disorders is an elongated polyQ tract in otherwise unrelated proteins.
Hannes VoSSfeldt, Malte Butzlaff, Katja PrüSSing, Róisín-Ana Ní Chárthaigh, Peter Karsten, Anne Lankes, Sabine Hamm, Mikael Simons, Boris Adryan, Jörg B Schulz, Aaron Voigt   +10 more
doaj   +1 more source

Remote Assessment of Ataxia Severity in SCA3 Across Multiple Centers and Time Points

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinocerebellar ataxia type 3 (SCA3) is a genetically defined ataxia. The Scale for Assessment and Rating of Ataxia (SARA) is a clinician‐reported outcome that measures ataxia severity at a single time point. In its standard application, SARA fails to capture short‐term fluctuations, limiting its sensitivity in trials.
Marcus Grobe‐Einsler, Vivian Maas, Arian Taheri Amin, Jennifer Faber, Tamara Schaprian, Katharina Hill, Matthis Synofzik, Lisa H. Graf, Heike Jacobi, Manuela Lima, Ana F. Ferreira, Bart P. van de Warrenburg, Ilse H. J. Willemse, Dagmar Timmann, Andreas Thieme, Paola Giunti, Hector Garcia‐Moreno, Magda M. Santana, Jeannette Hübener‐Schmid, Elin H. Davies, Thomas Klockgether   +20 more
wiley   +1 more source

Population genetics of spinoсerebellar ataxias caused by polyglutamine expansions

Вавиловский журнал генетики и селекции, 2019
Hereditary disorders of the neuronal system are some of the most important problems of medicine in the XXI century. The most interesting representatives of this group are highly prevalent polyglutamine spinocerebellar ataxias (SCAs).
A. N. Shuvaev, O. S. Belozor, M. V. Smolnikova, D. A. Yakovleva, Andr. N. Shuvaev, O. M. Kazantseva, E. A. Pozhilenkova, O. I. Mozhei, S. Kasparov   +8 more
doaj   +1 more source