Results 11 to 20 of about 40,748 (225)
ER stress-induced eIF2-alpha phosphorylation underlies sensitivity of striatal neurons to pathogenic huntingtin. [PDF]
PLoS ONE, 2014 A hallmark of Huntington's disease is the pronounced sensitivity of striatal neurons to polyglutamine-expanded huntingtin expression. Here we show that cultured striatal cells and murine brain striatum have remarkably low levels of phosphorylation of ...
Julia Leitman +6 more
doaj +15 more sources
The Ubiquitin-Proteasome Pathway in Huntington's Disease [PDF]
The Scientific World Journal, 2008 The accumulation of mutant protein is a common feature of neurodegenerative disease. In Huntington's disease, a polyglutamine expansion in the huntingtin protein triggers neuronal toxicity.
Siddhartha Mitra, Steven Finkbeiner
doaj +3 more sources
Neurobiology of Disease, 2001 The cause of Huntington's disease (HD) is a pathological expansion of the polyglutamine domain within the N-terminal region of huntingtin. Neuronal intranuclear inclusions and cytoplasmic aggregates composed of the mutant huntingtin within certain ...
Wanjoo Chun +2 more
exaly +3 more sources
Huntingtin and the Synapse [PDF]
Frontiers in Cellular Neuroscience, 2021 Huntington disease (HD) is a monogenic disease that results in a combination of motor, psychiatric and cognitive symptoms. HD is caused by a CAG trinucleotide repeat expansion in the huntingtin (HTT) gene, which results in the production of a pathogenic mutant HTT protein (mHTT).
Barron, Jessica C. +2 more
openaire +4 more sources
Frontiers in Physiology, 2023 Introduction: Huntington disease is an autosomal dominant neurodegenerative disorder which is caused by a CAG repeat expansion in the HTT gene that codes for an elongated polyglutamine tract in the huntingtin (HTT) protein.
Fanny L. Lemarié +4 more
doaj +1 more source
The Biology of Huntingtin [PDF]
Neuron, 2016 Huntingtin (HTT) is now a famous protein because an abnormal expansion of a glutamine stretch (polyQ) in its N-terminal sequence leads to the devastating neurodegenerative disorder Huntington's disease (HD). The gene encoding huntingtin, HTT, and its dominantly inherited mutation were identified more than 20 years ago.
Saudou, Frédéric, Humbert, Sandrine
openaire +2 more sources
Thermodynamics of Huntingtin Aggregation [PDF]
Biophysical Journal, 2020 Amyloid aggregates are found in many neurodegenerative diseases, including Huntington's, Alzheimer's, and prion diseases. The precise role of the aggregates in disease progression has been difficult to elucidate because of the diversity of aggregated states they can adopt.
Tam T M, Phan, Jeremy D, Schmit
openaire +2 more sources
The evolution of the huntingtin-associated protein 40 (HAP40) in conjunction with huntingtin [PDF]
BMC Evolutionary Biology, 2020 AbstractBackgroundThe huntingtin-associated protein 40 (HAP40) abundantly interacts with huntingtin (HTT), the protein that is altered in Huntington’s disease (HD). Therefore, we analysed the evolution of HAP40 and its interaction with HTT.ResultsWe found that in amniotes HAP40 is encoded by a single-exon gene, whereas in all other organisms it is ...
Manuel Seefelder +8 more
openaire +8 more sources
IKBKB reduces huntingtin aggregation by phosphorylating serine 13 via a non-canonical IKK pathway
Life Science Alliance, 2023 Early exposure of RA induced altered expressions of Wnt-related genes and subsequent osteogenic differentiation in embryonic mouse craniofacial prominences in a spatiotemporal-dependent manner.
Cristina Cariulo +7 more
doaj +1 more source
Huntingtin Lowering Strategies [PDF]
International Journal of Molecular Sciences, 2020 Trials using antisense oligonucleotide technology to lower Huntingtin levels in Huntington’s disease (HD) are currently ongoing. This progress, taking place only 27 years after the identification of the Huntingtin gene (HTT) in 1993 reflects the enormous development in genetic engineering in the last decades.
Franz Marxreiter +2 more
openaire +2 more sources