Results 41 to 50 of about 16,136 (210)
Pharmaceuticals, 2014 Histone deacetylases (HDACs) enzymes, which affect the acetylation status of histones and other important cellular proteins, have been recognized as potentially useful therapeutic targets for a broad range of human disorders.
Elizabeth A. Thomas
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Polyglutamine inclusion body toxicity [PDF]
Movement Disorders, 2017 Peer Reviewed ; https://deepblue.lib.umich.edu/bitstream/2027.42/141741/1/mds27226_am.pdf ; https://deepblue.lib.umich.edu/bitstream/2027.42/141741/2/mds27226 ...
openaire +3 more sources
Silencing Polyglutamine Degeneration with RNAi [PDF]
Neuron, 2005 Nine dominantly inherited neurodegenerative diseases are caused by expansion of a CAG repeat encoding glutamine. An important development in the study of such "polyglutamine" diseases was the realization that merely shutting off expression of a disease-encoding transgene could arrest progression in animal models with significant disease pathology. Such
Bonini, Nancy M., La Spada, Albert R.
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Discovery and Targeted Proteomic Studies Reveal Striatal Markers Validated for Huntington's Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Clinical trials for Huntington's disease (HD) enrolling persons before clinical motor diagnosis (CMD) lack validated biomarkers. This study aimed to conduct an unbiased discovery analysis and a targeted examination of proteomic biomarkers scrutinized by clinical validation. Methods Cerebrospinal fluid was obtained from PREDICT‐HD and
Daniel Chelsky +8 more
wiley +1 more source
Are Polyglutamine Diseases Expanding? [PDF]
Neuron, 2011 It remains a matter of speculation as to whether the sense CUG-containing RNA and/or the antisense CAG-encoding polyglutamine peptide serves as the pathogenic moiety in Huntington's disease like-2 (HDL2). In this issue of Neuron, Wilburn et al. show that in a HDL2 mouse model, the polyglutamine peptide drives disease progression.
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Altered retinal structure and function in Spinocerebellar ataxia type 3
Neurobiology of Disease, 2022 Spinocerebellar ataxia type 3 (SCA3) is an autosomal dominant neurodegenerative disorder caused by expansion of a polyglutamine (polyQ)-encoding CAG repeat in the ATXN3 gene. Because the ATXN3 protein regulates photoreceptor ciliogenesis and phagocytosis,
Vasileios Toulis +10 more
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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 +20 more
wiley +1 more source
Advanced Science, EarlyView.This study uncovers a new allosteric site in the Josephin domain of ataxin‐3 targeted by the molecular tweezer CLR01, which modulates protein aggregation, improves synaptic function in neuronal cells, and delays motor dysfunction in animal models.
Alexandra Silva +28 more
wiley +1 more source
Annals of Neurology, EarlyView.Objective An enduring puzzle in many inherited neurological disorders is the late onset of symptoms despite expression of function‐impairing mutant protein early in life. We examined the basis for onset of impairment in spinocerebellar ataxia type 6 (SCA6), a canonical late‐onset neurodegenerative ataxia which results from a polyglutamine expansion in ...
Haoran Huang +10 more
wiley +1 more source
Molecules, 2014 Polyglutamine (polyQ) aggregation plays a pivotal role in the pathological process of Huntington’s disease and other polyQ disorders. Therefore, strategies aiming at restoring dysfunction and reducing stresses mediated by polyQ toxicity are of ...
Lingyun Xiao +9 more
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