Results 281 to 290 of about 49,474 (299)
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Journal of the American Chemical Society, 2022
The lack of detailed insight into the structure of aggregates formed by the huntingtin protein (HTT) has hampered the efforts to develop therapeutics and diagnostics targeting pathology formation in the brain of patients with Huntington's disease.
Sergey Nazarov +3 more
semanticscholar +1 more source
The lack of detailed insight into the structure of aggregates formed by the huntingtin protein (HTT) has hampered the efforts to develop therapeutics and diagnostics targeting pathology formation in the brain of patients with Huntington's disease.
Sergey Nazarov +3 more
semanticscholar +1 more source
Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain.
Science, 1997The cause of neurodegeneration in Huntington's disease (HD) is unknown. Patients with HD have an expanded NH2-terminal polyglutamine region in huntingtin.
M. Difiglia +6 more
semanticscholar +1 more source
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,
Khosrow Rezvani +11 more
openaire +3 more sources
JAMA Neurology, 2020
Huntington disease (HD) is caused by a cytosine-adenine-guanine trinucleotide repeat expansion in the huntingtin gene, HTT, that results in expression of variant (mutant) huntingtin protein (HTT).
B. Leavitt, H. Kordasiewicz, S. Schobel
semanticscholar +1 more source
Huntington disease (HD) is caused by a cytosine-adenine-guanine trinucleotide repeat expansion in the huntingtin gene, HTT, that results in expression of variant (mutant) huntingtin protein (HTT).
B. Leavitt, H. Kordasiewicz, S. Schobel
semanticscholar +1 more source
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 J. Moore
openaire +3 more sources
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 J. Moore
openaire +3 more sources
2014
Huntingtin (HTT) is the 3,144–amino acid protein product of the Huntington’s disease gene (HTT), which can be traced back through 800 million years of evolution. It carries a trinucleotide CAG repeat that encodes polyglutamine (polyQ) at an evolutionarily conserved NH2-terminal position in exon 1. This chapter discusses the discoveries that have mapped
C. Zuccato, E. Cattaneo
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Huntingtin (HTT) is the 3,144–amino acid protein product of the Huntington’s disease gene (HTT), which can be traced back through 800 million years of evolution. It carries a trinucleotide CAG repeat that encodes polyglutamine (polyQ) at an evolutionarily conserved NH2-terminal position in exon 1. This chapter discusses the discoveries that have mapped
C. Zuccato, E. Cattaneo
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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).
Lucius A. Passani +2 more
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Characterization of neuron-specific huntingtin aggregates in human huntingtin knock-in mice
Neuroscience Research, 2007Huntington's disease (HD) is caused by a mutation causing expanded polyglutamine tracts in the N-terminal fragment of huntingtin. A pathological hallmark of HD is the formation of aggregates in the striatal neurons. Here we report that ageing human huntingtin knock-in mice expressing mutant human huntingtin contained neuronal huntingtin aggregates, as ...
Hisahide Takahashi +9 more
openaire +3 more sources