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New England Journal of Medicine, 2012
Huntington's disease was the first disease whose causative gene (HTT) was mapped to a chromosome, and yet almost 30 years later, rational treatments do not exist. A recent study using a mouse model supports a strategy to knock down HTT RNA.
Neil, Aronin, Melissa, Moore
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Huntington's disease was the first disease whose causative gene (HTT) was mapped to a chromosome, and yet almost 30 years later, rational treatments do not exist. A recent study using a mouse model supports a strategy to knock down HTT RNA.
Neil, Aronin, Melissa, Moore
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Huntingtin facilitates selective autophagy
Nature Cell Biology, 2015Selective autophagy is essential for maintaining cellular homeostasis under different growth conditions. Huntingtin, mutated versions of which have been implicated in Huntington disease, is now shown to act as a scaffold protein that couples the induction of autophagy and the selective recruitment of cargo into autophagosomes.
Amir, Gelman +2 more
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Science's STKE, 2002
Huntington's disease (HD) is characterized by progressive brain neurodegeneration, often leading to dementia. A mutation in the huntingtin protein and nuclear accumulation of the mutant are associated with the pathology of HD, but it is not yet clear how the mutant protein induces the death of neurons.
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Huntington's disease (HD) is characterized by progressive brain neurodegeneration, often leading to dementia. A mutation in the huntingtin protein and nuclear accumulation of the mutant are associated with the pathology of HD, but it is not yet clear how the mutant protein induces the death of neurons.
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Calretinin interacts with huntingtin and reduces mutant huntingtin‐caused cytotoxicity
Journal of Neurochemistry, 2012AbstractHuntington's disease (HD) is a devastating neurodegenerative disorder caused by an expansion of CAG trinucleotide repeats encoding for polyglutamine (polyQ) in the huntingtin (Htt) gene. Despite considerable effort, the mechanisms underlying the toxicity of the mutated Htt protein remains largely uncertain. To identify novel therapeutic targets,
Gaofeng, Dong +9 more
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Huntingtin's critical cleavage
Nature Neuroscience, 2006The early pathogenic events leading to neurodegeneration in Huntington disease are not clear. A recent paper shows that mutating a caspase-6 cleavage site in the huntingtin protein is sufficient to prevent pathogenesis.
John D Fryer, Huda Y Zoghbi
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The Huntingtin Transport Complex
BiochemistryA dynamic network of scaffolding molecules, adaptor proteins, and motor proteins work together to orchestrate the movement of proteins, mRNA, and vesicular cargoes. Defects in intracellular transport can often lead to neurodegeneration. Huntingtin (HTT) is a ubiquitously expressed scaffolding protein with a multitude of cellular roles, including ...
Emily N. P. Prowse +3 more
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Huntingtin-Associated Proteins
2001Huntington’s disease (HD), with its writhing dancelike movements (chorea) and cardinal loss of neurons in the striatum (1), is the result of an unstable expanded CAG trinucleotide repeat that lengthens a variable glutamine tract in a novel protein called huntingtin (HD) (2).
Marcy E. MacDonald +2 more
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Mutant HTT (huntingtin) impairs mitophagy in a cellular model of Huntington disease
Autophagy, 2021Sandra Franco-Iborra +2 more
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