Results 61 to 70 of about 19,992 (185)
Early Longitudinal Brain Network Changes in Huntington's Disease Before Clinical Motor Onset
Movement Disorders, EarlyView.Abstract Background Longitudinal studies of seed‐based functional connectivity (SBFC) in young adult Huntington's disease gene‐expanded (HDGE) individuals are rare, and none, to our knowledge, have examined adult cohorts decades from predicted clinical motor diagnosis.
Michela Leocadi +13 more
wiley +1 more source
Reduced Fractalkine Levels Lead to Striatal Synaptic Plasticity Deficits in Huntington’s Disease
Frontiers in Cellular Neuroscience, 2020 Huntington’s disease (HD) is an inherited neurodegenerative disorder in which the striatum is the most affected brain region. Although a chronic inflammatory microglial reaction that amplifies disease progression has been described in HD patients, some ...
Anya Kim +40 more
doaj +1 more source
Proteostasis of organelles in aging and disease
The FEBS Journal, EarlyView.Cells rely on regulated proteostasis mechanisms to keep their internal compartments functioning properly. When these mechanisms fail, damaged proteins accumulate, disrupting organelles, such as the nucleus, mitochondria, endoplasmic reticulum, Golgi, and lysosomes, as well as membraneless organelles, such as stress granules, processing bodies, the ...
Yara Nabawi +5 more
wiley +1 more source
Reduction of mutant huntingtin accumulation and toxicity by lysosomal cathepsins D and B in neurons
Molecular Neurodegeneration, 2011 Background Huntington's disease is caused by aggregation of mutant huntingtin (mHtt) protein containing more than a 36 polyQ repeat. Upregulation of macroautophagy was suggested as a neuroprotective strategy to degrade mutant huntingtin.
Ouyang Xiaosen +3 more
doaj +1 more source
The FEBS Journal, EarlyView.We investigated the potential of iloperidone as an activator of Sigma‐1 receptor (S1R) neuroprotective function in juvenile Huntington's disease (jHD). We tested iloperidone on cortical neurons differentiated from patient‐derived iPSCs, demonstrating that it acts as a S1R agonist, decreasing apoptosis, huntingtin aggregation, and oxidative stress ...
Ersilia Fornetti +11 more
wiley +1 more source
Neurobiology of Disease, 2006 Huntington disease (HD) is a devastating neuropsychiatric disease caused by expansion of a trinucleotide repeat (CAG) in the HD gene. Neuropathological changes include the appearance of N-terminal huntingtin fragments, decreased brain weight and ...
Rona K. Graham +9 more
doaj +1 more source
Phase Transition of Huntingtin: Factors and Pathological Relevance
Frontiers in Genetics, 2020 Formation of intracellular mutant Huntingtin (mHtt) aggregates is a hallmark of Huntington’s disease (HD). The mechanisms underlying mHtt aggregation, however, are still not fully understood. A few recent studies indicated mHtt undergoes phase transition,
Junsheng Yang, Xiaotong Yang
doaj +1 more source
The sorting nexin Snx21 promotes flotillin‐mediated endocytosis
The FEBS Journal, EarlyView.In this study, we describe a novel function of the previously uncharacterized Snx21 protein as a specific positive regulator of flotillin‐mediated endocytic trafficking. Snx21 is recruited to endosomal membranes via binding to PI(3)P, and it colocalizes with flotillins on the surface of late endosomes.
Tamás Maruzs +9 more
wiley +1 more source
MeCP2: a novel Huntingtin interactor [PDF]
Human Molecular Genetics, 2013 Transcriptional dysregulation has been proposed to play a major role in the pathology of Huntington's disease (HD). However, the mechanisms that cause selective downregulation of target genes remain unknown. Previous studies have shown that mutant huntingtin (Htt) protein interacts with a number of transcription factors thereby altering transcription ...
McFarland KN +7 more
openaire +4 more sources
Stimulating proteasomal degradation in human proteinopathies
The FEBS Journal, EarlyView.The proteasome mediates the degradation of a wide range of proteins. Boosting proteasomal degradation may be beneficial in several disease contexts and can be achieved either by modulating proteasome activity or by improving substrate delivery. Proteasome activity can be enhanced by increasing proteasome abundance, inducing constitutive gate opening ...
Maria E. Gierisch +2 more
wiley +1 more source