Results 41 to 50 of about 5,553,804 (280)

Huntingtin associated protein 1 and its functions [PDF]

Cell Adhesion & Migration, 2009
Huntington disease (HD) is caused by a polyglutamine expansion in the protein huntingtin (Htt). Several studies suggest that Htt and huntingtin associated protein 1 (HAP1) participate in intracellular trafficking and that polyglutamine expansion affects vesicular transport.
Zhou, Xin-Fu, Wu, Linyan
openaire   +5 more sources

Huntingtin is required for ER-to-Golgi transport and for secretory vesicle fusion at the plasma membrane

Disease Models & Mechanisms, 2014
Huntingtin is a large membrane-associated scaffolding protein that associates with endocytic and exocytic vesicles and modulates their trafficking along cytoskeletal tracks. Although the progression of Huntington’s disease is linked to toxic accumulation
Hemma Brandstaetter, Antonina J. Kruppa, Folma Buss   +2 more
doaj   +1 more source

Trehalose reverses cell malfunction in fibroblasts from normal and Huntington's disease patients caused by proteosome inhibition.

PLoS ONE, 2014
Huntington's disease (HD) is a neurodegenerative disorder characterized by progressive motor, cognitive and psychiatric deficits, associated with predominant loss of striatal neurons and is caused by polyglutamine expansion in the huntingtin protein ...
Maria Angeles Fernandez-Estevez, Maria Jose Casarejos, Jose López Sendon, Juan Garcia Caldentey, Carolina Ruiz, Ana Gomez, Juan Perucho, Justo García de Yebenes, Maria Angeles Mena   +8 more
doaj   +1 more source

IKK phosphorylates Huntingtin and targets it for degradation by the proteasome and lysosome [PDF]

, 2009
Expansion of the polyglutamine repeat within the protein Huntingtin (Htt) causes Huntington's disease, a neurodegenerative disease associated with aging and the accumulation of mutant Htt in diseased neurons.
Aiken, Ali Khoshnan, Alice L. Lau, Ana Maria Cuervo, Anne, Apostol, Arrasate, Arrasate, Ashish Massey, Atwal, Atwal, Björkqvist, Brown, Charity T. Aiken, Chen, Chondrogianni, Cornett, Cuervo, Cuervo, Cuervo, D'Orazi, Dan, Donald C. Lo, Fang, Finkbeiner, Frank M. LaFerla, Gillian Bates, Graham, Grossman, Gu, Guerrero, Gutekunst, Hasan Khashwji, Henn, Hernandez-Hernandez, Hietakangas, Hofmann, Hu, Huang, Humbert, Hunter, J. Lawrence Marsh, Jacqueline Gire O'Rourke, Jeong, Jiang, Joan S. Steffan, Karin, Karin, Katalin Illes, Kaushik, Kazantsev, Khoshnan, Khoshnan, Kim N. Green, Komatsu, Lan Huang, Leslie Michels Thompson, Linda S. Kaltenbach, Liu, Lo, Luo, Mangiarini, Marta Martinez-Vincente, Martinez-Vicente, Massey, Massey, Michael R. Hayden, Michels, Mizushima, Montserrat Arrasate, Namita Agrawal, Orr, Paul H. Patterson, Peters-Libeu, Rockabrand, Saudou, Schilling, Scott O. Zeitlin, Shao, Southwell, Steffan, Steffan, Steffan, Steven Finkbeiner, Tagwerker, Tamas Lukacsovich, Tonoki, Verma, Walker, Warby, Warby, Warby, Wu, Xia, Ya-Zhen Zhu, Yanai, Zhang, Zuccato   +97 more
core   +3 more sources

Emerging Therapies for Huntington’s Disease – Focus on N-Terminal Huntingtin and Huntingtin Exon 1

Biologics: Targets & Therapy, 2022
M Leontien van der Bent, Melvin M Evers, Astrid Vallès uniQure biopharma B.V., Department of Research and Development, Amsterdam, the NetherlandsCorrespondence: Astrid Vallès, uniQure biopharma B.V, Postbus 22506, Amsterdam, 1100 DA, the Netherlands, Tel
van der Bent ML, Evers MM, Vallès A
doaj  

Effects of overexpression of Huntingtin proteins on mitochondrial integrity [PDF]

Human Molecular Genetics, 2008
Huntington's disease (HD) is caused by an expansion of a CAG trinucleotide sequence that encodes a polyglutamine tract in the huntingtin (Htt) protein. Expansion of the polyglutamine tract above 35 repeats causes disease, with the age of onset inversely related to the degree of expansion above this number.
Hongmin Wang, Precious J. Lim, Mariusz Karbowski, Mervyn J. Monteiro   +3 more
openaire   +3 more sources

The cholesterol 24-hydroxylase activates autophagy and decreases mutant huntingtin build-up in a neuroblastoma culture model of Huntington’s disease [PDF]

, 2020
Objective Compromised brain cholesterol turnover and altered regulation of brain cholesterol metabolism have been allied with some neurodegenerative diseases, including Huntington’s disease (HD).
Alves, Sandro, Betuing, Sandrine, Caboche, Jocelyne, Carmo-Silva, Sara, Cartier, Nathalie, Conceição, André, Costa, Rafael G, Koppenol, Rebekah, Marcelo, Adriana, Matos, Carlos A, Nunes, Ricardo, Nóbrega, Clévio, Sequeira, Raquel L.   +12 more
core   +1 more source

Huntingtin interacts with a family of WW domain proteins [PDF]

Human Molecular Genetics, 1998
The hallmark neuropathology of Huntington's disease (HD) is due to elongation of a polyglutamine segment in huntingtin, a novel approximately 350 kDa protein of unknown function. We used a yeast two-hybrid interactor screen to identify proteins whose association with huntingtin might be altered in the pathogenic process.
Marcy E. MacDonald, Glenn Barnes, James F. Gusella, Peter W. Faber, Jianmin Chen, Jayalakshmi Srinidhi   +5 more
openaire   +3 more sources

Robust Cell-Free Expression of Sub-Pathological and Pathological Huntingtin Exon-1 for NMR Studies. General Approaches for the Isotopic Labeling of Low-Complexity Proteins

Biomolecules, 2020
The high-resolution structural study of huntingtin exon-1 (HttEx1) has long been hampered by its intrinsic properties. In addition to being prone to aggregate, HttEx1 contains low-complexity regions (LCRs) and is intrinsically disordered, ruling out ...
Anna Morató, Carlos A. Elena-Real, Matija Popovic, Aurélie Fournet, Karen Zhang, Frédéric Allemand, Nathalie Sibille, Annika Urbanek, Pau Bernadó   +8 more
doaj   +1 more source

siRNA screen identifies QPCT as a druggable target for Huntington's disease. [PDF]

, 2015
Huntington's disease (HD) is a currently incurable neurodegenerative condition caused by an abnormally expanded polyglutamine tract in huntingtin (HTT).
Andreini, Matteo, Caradonna, Nicola P., Caramelli, Chiara, Caricasole, Andrea, Dami, Teresa Ed, Diamanti, Daniela, Fleming, Angeleen, Gonzalez-Couto, Eduardo, Hannus, Michael, Heitz, Freddy, Imarisio, Sara, Jimenez-Sanchez, Maria, Lam, Wun, Lazzeroni, Giulia, Marconi, Guido, Massai, Luisa, Menzies, Fiona, Nencini, Arianna, O?Kane, Cahir J., Pollio, Giuseppe, Porcari, Valentina, Rubinsztein, David C., S?nnichsen, Birte, Sardone, Gian Luca, Satagopam, Venkata P., Scali, Carla, Schneider, Reinhard, Tarditi, Alessia, Xu, Catherine   +28 more
core   +5 more sources