Results 61 to 70 of about 30,328 (180)

The ubiquitin-proteasome pathway in Huntington's disease. [PDF]

, 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.
Finkbeiner, Steven, Mitra, Siddhartha
core   +2 more sources

Early and Progressive Spinal Cord Atrophy in Spinocerebellar Ataxia Type 1

Movement Disorders, EarlyView.
Abstract Background Spinocerebellar ataxia type 1 (SCA1) is a rare, autosomal dominant neurodegenerative disorder characterized by progressive cerebellar and brainstem degeneration. Previous studies have shown that spinal cord atrophy is also a key aspect of SCA1 neuropathology.
Colette J.M. Reniers, Teije H. van Prooije, Kirsten C.J. Kapteijns, Jack J.A. van Asten, Caterina Mariotti, Lidia Sarro, Anna Nigri, Marina Grisoli, Giulia Coarelli, Alexandra Durr, Tom Scheenen, Bart van de Warrenburg   +11 more
wiley   +1 more source

Salidroside Protects Caenorhabditis elegans Neurons from Polyglutamine-Mediated Toxicity by Reducing Oxidative Stress

Molecules, 2014
Polyglutamine (polyQ) aggregation plays a pivotal role in the pathological process of Huntington’s disease and other polyQ disorders. Therefore, strategies aiming at restoring dysfunction and reducing stresses mediated by polyQ toxicity are of ...
Lingyun Xiao, Haifeng Li, Ju Zhang, Fan Yang, Aizhen Huang, Jingjing Deng, Ming Liang, Fangli Ma, Minghua Hu, Zebo Huang   +9 more
doaj   +1 more source

Hunting for the cause: Evidence for prion-like mechanisms in Huntington’s disease

Frontiers in Neuroscience, 2022
The hypothesis that pathogenic protein aggregates associated with neurodegenerative diseases spread from cell-to-cell in the brain in a manner akin to infectious prions has gained substantial momentum due to an explosion of research in the past 10–15 ...
Kirby M. Donnelly, Cevannah M. Coleman, Madison L. Fuller, Victoria L. Reed, Dayna Smerina, David S. Tomlinson, Margaret M. Panning Pearce, Margaret M. Panning Pearce   +7 more
doaj   +1 more source

Identification of hepta-histidine as a candidate drug for Huntington's disease by in silico-in vitro- in vivo-integrated screens of chemical libraries. [PDF]

, 2016
We identified drug seeds for treating Huntington's disease (HD) by combining in vitro single molecule fluorescence spectroscopy, in silico molecular docking simulations, and in vivo fly and mouse HD models to screen for inhibitors of abnormal ...
Chen, Xigui, Finkbeiner, Steven, Fujita, Kyota, Homma, Hidenori, Ikura, Teikichi, Imamura, Tomomi, Ito, Nobutoshi, Kaye, Julia, Mao, Ying, Motoki, Kazumi, Nakabayashi, Makoto, Okano, Hideyuki, Okazawa, Hitoshi, Tagawa, Kazuhiko, Tamura, Takuya, Taniguchi, Juliana Bosso, Tomii, Kentaro, Yamada, Kazunori   +17 more
core   +2 more sources

Limited Clinical Impact of Androgen Receptor Repeat Length (CAG and GGC) in Klinefelter Syndrome: A Multivariable Analysis

Andrology, EarlyView.
ABSTRACT Background Klinefelter syndrome (KS) is characterized by marked phenotypic heterogeneity that might be influenced by genetic modifiers, including androgen receptor (AR) repeat length (CAGn and GGCn). The clinical relevance of these repeat lengths in patients with KS before testosterone replacement therapy (TRT) remains unclear.
Andrea Graziani, Alberto Scala, Maria Santa Rocca, Cinzia Vinanzi, Giuseppe Grande, Andrea Di Nisio, Riccardo Selice, Antonella Di Mambro, Alberto Ferlin   +8 more
wiley   +1 more source

Stem cell models of polyglutamine diseases and their use in cell-based therapies

Frontiers in Neuroscience, 2015
Polyglutamine diseases are fatal neurological disorders that affect the central nervous system. They are caused by mutations in disease genes that contain CAG trinucleotide expansions in their coding regions.
Evangelia eSiska, George eKoliakos, George eKoliakos, Spyros ePetrakis   +3 more
doaj   +1 more source

Sleep Alterations in a Mouse Model of Spinocerebellar Ataxia Type 3

Cells, 2022
Spinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disorder showing progressive neuronal loss in several brain areas and a broad spectrum of motor and non-motor symptoms, including ataxia and altered sleep.
Maria-Efstratia Tsimpanouli, Anjesh Ghimire, Anna J. Barget, Ridge Weston, Henry L. Paulson, Maria do Carmo Costa, Brendon O. Watson   +6 more
doaj   +1 more source

The proteostasis network and its decline in ageing

, 2019
Ageing is a major risk factor for the development of many diseases, prominently including neurodegenerative disorders such as Alzheimer disease and Parkinson disease.
Hartl, F., Hipp, M., Kasturi, P.
core   +1 more source

Examination of ataxin-3 (atx-3) aggregation by structural mass spectrometry techniques: A rationale for expedited aggregation upon polyglutamine (polyQ) expansion [PDF]

, 2015
Expansion of polyglutamine stretches leads to the formation of polyglutamine-containing neuronal aggregates and neuronal death in nine diseases for which there currently are no treatments or cures.
Alison E. Ashcroft, Almeida, Ashcroft, Bernstein, Beveridge, Beveridge, Bevivino, Bleiholder, Bruno Almeida, Bush, Charlotte A. Scarff, Chow, Chow, Costa, Cummings, de Chiara, Duennwald, Ellisdon, Ellisdon, England, Fujigasaki, Gales, Gerhard, Goto, Hilton, Ignatova, Invernizzi, Ivanova, Joana Fraga, Kettner, Lajoie, Masino, Masino, Masino, Matos, Menon, Nagai, Natalello, Nicastro, Nicastro, Orr, Paulson, Rockabrand, Ruotolo, Ruotolo, Sandra Macedo-Ribeiro, Sanfelice, Saunders, Saunders, Scarff, Sheena E. Radford, Smith, Spitzer, Testa, Thakur, Zoghbi   +55 more
core   +1 more source