Results 61 to 70 of about 5,553,804 (280)

Alterations in mRNA 3′ UTR Isoform Abundance Accompany Gene Expression Changes in Human Huntington’s Disease Brains

Cell Reports, 2017
The huntingtin gene has two mRNA isoforms that differ in their 3′ UTR length. The relationship of these isoforms with Huntington’s disease is not established.
Lindsay Romo, Ami Ashar-Patel, Edith Pfister, Neil Aronin   +3 more
doaj   +1 more source

Huntingtin’s spherical solenoid structure enables polyglutamine tract-dependent modulation of its structure and function

eLife, 2016
The polyglutamine expansion in huntingtin protein causes Huntington’s disease. Here, we investigated structural and biochemical properties of huntingtin and the effect of the polyglutamine expansion using various biophysical experiments including ...
Ravi Vijayvargia, Raquel Epand, Alexander Leitner, Tae-Yang Jung, Baehyun Shin, Roy Jung, Alejandro Lloret, Randy Singh Atwal, Hyeongseok Lee, Jong-Min Lee, Ruedi Aebersold, Hans Hebert, Ji-Joon Song, Ihn Sik Seong   +13 more
doaj   +1 more source

No symphony without bassoon and piccolo: changes in synaptic active zone proteins in Huntington’s disease

Acta Neuropathologica Communications, 2020
Prominent features of HD neuropathology are the intranuclear and cytoplasmic inclusions of huntingtin and striatal and cortical neuronal cell death.
Ting-Ting Huang, Ruben Smith, Karl Bacos, Dong-Yan Song, Richard M. Faull, Henry J. Waldvogel, Jia-Yi Li   +6 more
doaj   +1 more source

Nuclear and cytoplasmic huntingtin inclusions exhibit distinct biochemical composition, interactome and ultrastructural properties

Nature Communications, 2021
The mechanisms underlying Huntingtin protein (Htt) aggregation are not fully understood. Here the authors perform a detailed investigation of the ultrastructural and biochemical properties of huntingtin cytoplasmic and nuclear inclusions, and reveal that
Nathan Riguet, Anne-Laure Mahul-Mellier, Niran Maharjan, Johannes Burtscher, Marie Croisier, Graham Knott, Janna Hastings, Alice Patin, Veronika Reiterer, Hesso Farhan, Sergey Nasarov, Hilal A. Lashuel   +11 more
doaj   +1 more source

Metabolic and transcriptomic analysis of Huntington's disease model reveal changes in intracellular glucose levels and related genes. [PDF]

, 2017
Huntington's Disease (HD) is a neurodegenerative disorder caused by an expansion in a CAG-tri-nucleotide repeat that introduces a poly-glutamine stretch into the huntingtin protein (mHTT).
Chaves, Gepoliano, Costa, Yvonne Da, Hadiprodjo, Hana, Pourmand, Nader, Rao, Namrata V, Tokuno, Zachary, Özel, Rıfat Emrah   +6 more
core   +2 more sources

Early detection of exon 1 huntingtin aggregation in zQ175 brains by molecular and histological approaches

Brain Communications, 2023
Huntingtin-lowering approaches that target huntingtin expression are a major focus for therapeutic intervention for Huntington’s disease. When the cytosine, adenine and guanine repeat is expanded, the huntingtin pre-mRNA is alternatively processed to ...
Edward J. Smith, K. Sathasivam, C. Landles, Georgina F Osborne, Michael A. Mason, Casandra Gomez-Paredes, Bridget A Taxy, Rebecca E Milton, Anne Ast, F. Schindler, Chuangchuang Zhang, W. Duan, E. Wanker, G. Bates   +13 more
semanticscholar   +1 more source

Huntingtin is critical both pre- and postsynaptically for long-term learning-related synaptic plasticity in Aplysia. [PDF]

PLoS ONE, 2014
Patients with Huntington's disease exhibit memory and cognitive deficits many years before manifesting motor disturbances. Similarly, several studies have shown that deficits in long-term synaptic plasticity, a cellular basis of memory formation and ...
Yun-Beom Choi, Beena M Kadakkuzha, Xin-An Liu, Komolitdin Akhmedov, Eric R Kandel, Sathyanarayanan V Puthanveettil   +5 more
doaj   +1 more source

Systematic interaction network filtering identifies CRMP1 as a novel suppressor of huntingtin misfolding and neurotoxicity [PDF]

, 2015
Assemblies of huntingtin (HTT) fragments with expanded polyglutamine (polyQ) tracts are a pathological hallmark of Huntington's disease (HD). The molecular mechanisms by which these structures are formed and cause neuronal dysfunction and toxicity are ...
Andrade-Navarro, Miguel A., Bates, Gillian P., Boeddrich, Annett, Bounab, Yacine, Chaurasia, Gautam, Fournier, David, Friedrich, Ralf P., Futschik, Matthias E., Graham, Rona K., Haenig, Christian, Hayden, Michael R., Hesse, Franziska, Klockmeier, Konrad, Li, Shuang, Nicoletti, Cecilia, Priller, Josef, Riechers, Sean-Patrick, Russ, Jenny, Schnoegl, Sigrid, Sigrist, Stephan, Strempel, Nadine, Stroedicke, Martin, Wanker, Erich E., Wiglenda, Thomas, Yigit, Sargon   +24 more
core   +2 more sources

Huntingtin Interacting Proteins Are Genetic Modifiers of Neurodegeneration

PLoS Genetics, 2007
Huntington's disease (HD) is a fatal neurodegenerative condition caused by expansion of the polyglutamine tract in the huntingtin (Htt) protein. Neuronal toxicity in HD is thought to be, at least in part, a consequence of protein interactions involving mutant Htt.
Guang Ho Cha, Andrew D. Strand, Lubna Ukani, Sudhir Sahasrabudhe, Cameron Torcassi, Rakesh Chettier, Russell Bell, Amit Phansalkar, Lisa M. Ellerby, Robert R. Becklin, Linda S. Kaltenbach, Juan Botas, Eliana Romero, Cindy Lou Chepanoske, Anthony Hurlburt, James M. Olson, Yuejun Zhen, Cornelia Kurschner, Justin Savage, John M. Peltier, Robert E. Hughes   +20 more
openaire   +5 more sources

Isolation of a 40-kDa Huntingtin-associated Protein [PDF]

Journal of Biological Chemistry, 2001
Huntington's disease is caused by an expanded CAG trinucleotide repeat coding for a polyglutamine stretch within the huntingtin protein. Currently, the function of normal huntingtin and the mechanism by which expanded huntingtin causes selective neurotoxicity remain unknown. Clues may come from the identification of huntingtin-associated proteins (HAPs)
Christopher A. Ross, Matthew F. Peters
openaire   +3 more sources