Results 61 to 70 of about 28,868 (258)
Gene Silencing Therapies for Huntington’s Disease [PDF]
Neurology LettersHuntington’s disease (HD) is a rare, autosomal‑dominant neurodegenerative disorder precipitated by a pathological expansion of CAG trinucleotide repeats in exon 1 of the huntingtin (HTT) gene.
Chunlan Hao, Hanfeng Ji
doaj +1 more source
The pathobiology of perturbed mutant huntingtin protein–protein interactions in Huntington's disease
Journal of Neurochemistry, 2019 Mutations are at the root of many human diseases. Still, we largely do not exactly understand how they trigger pathogenesis. One, more recent, hypothesis has been that they comprehensively perturb protein–protein interaction (PPI) networks and ...
E. Wanker +4 more
semanticscholar +1 more source
Aβ42 promotes the aggregation of α‐synuclein splice isoforms via heterogeneous nucleation
FEBS Letters, EarlyView.The aggregation of amyloid‐β (Aβ) and α‐synuclein (αSyn) is associated with Alzheimer's and Parkinson's diseases. This study reveals that Aβ aggregates serve as potent nucleation sites for the aggregation of αSyn and its splice isoforms, shedding light on the intricate interplay between these two pathogenic proteins.
Alexander Röntgen +2 more
wiley +1 more source
Mutant huntingtin gene-dose impacts on aggregate deposition, DARPP32 expression and neuroinflammation in HdhQ150 mice. [PDF]
PLoS ONE, 2013 Huntington's disease (HD) is an autosomal dominant, progressive and fatal neurological disorder caused by an expansion of CAG repeats in exon-1 of the huntingtin gene.
Douglas Young +8 more
doaj +1 more source
Stage‐Dependent Inhibitory Connectivity in Striatal‐Motor Circuit in Huntington's Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Elucidating dysfunctional connectivity patterns among key brain regions in Huntington's disease (HD) underlying progression may have implications for developing treatment and therapeutic evaluation. Objective Explore the relationship between abnormal spontaneous resting‐state activity and atrophy in HD‐specific brain regions and ...
Yinghua Jing +4 more
wiley +1 more source
PLoS ONE, 2014 Huntington disease is an adult onset neurodegenerative disease characterized by motor, cognitive, and psychiatric dysfunction, caused by a CAG expansion in the HTT gene. Huntingtin Interacting Protein 14 (HIP14) and Huntingtin Interacting Protein 14-like (HIP14L) are palmitoyl acyltransferases (PATs), enzymes that mediate the post-translational ...
Shaun S. Sanders +3 more
openaire +5 more sources
Proteostasis of Huntingtin in Health and Disease [PDF]
International Journal of Molecular Sciences, 2017 Huntington’s disease (HD) is a fatal neurodegenerative disorder characterized by motor dysfunction, cognitive deficits and psychosis. HD is caused by mutations in the Huntingtin (HTT) gene, resulting in the expansion of polyglutamine (polyQ) repeats in the HTT protein.
Ricardo Gutierrez-Garcia +3 more
openaire +3 more sources
Science Translational Medicine, 2018 Mutant huntingtin and neurofilament in biofluids may have prognostic potential in Huntington’s disease. Improving Huntington’s disease detection Early detection of Huntington’s disease (HD) could help the development of effective therapeutic strategies ...
L. Byrne +12 more
semanticscholar +1 more source
Advanced Biology, EarlyView.Extracellular vesicles (EVs) play a dual role in diagnostics and therapeutics, offering innovative solutions for treating cancer, cardiovascular, neurodegenerative, and orthopedic diseases. This review highlights EVs’ potential to revolutionize personalized medicine through specific applications in disease detection and treatment.
Farbod Ebrahimi +4 more
wiley +1 more source
Novel DNA Aptamers that Bind to Mutant Huntingtin and Modify Its Activity
Molecular Therapy: Nucleic Acids, 2018 The CAG repeat expansion that elongates the polyglutamine tract in huntingtin is the root genetic cause of Huntington’s disease (HD), a debilitating neurodegenerative disorder.
Baehyun Shin +12 more
doaj +1 more source