Results 41 to 50 of about 44,176 (282)

PAK in Alzheimer disease, Huntington disease and X-linked mental retardation. [PDF]

, 2012
Developmental cognitive deficits including X-linked mental retardation (XLMR) can be caused by mutations in P21-activated kinase 3 (PAK3) that disrupt actin dynamics in dendritic spines.
Cole, Greg M, Frautschy, Sally A, Ma, Qiu-Lan, Yang, Fusheng   +3 more
core   +1 more source

Huntingtin Fibrils Poke Membranes [PDF]

Cell, 2017
A hallmark of Huntington's disease is the presence of intracellular aggregates of mutant huntingtin, the pathological significance of which has long been debated. Using cryo-electron tomography, Bauerlein et al. reveal the fibrillary structure of huntingtin aggregates in situ and show that huntingtin fibrils interact with the endoplasmic reticulum ...
Pedro, Guedes-Dias, Erika L F, Holzbaur
openaire   +2 more sources

Polyglutamine Repeat Length-Dependent Proteolysis of Huntingtin

Neurobiology of Disease, 2002
Amino-terminal fragments of huntingtin, which contain the expanded polyglutamine repeat, have been proposed to contribute to the pathology of Huntington's disease (HD).
Banghua Sun, Wei Fan, Aldona Balciunas, Jillian K. Cooper, Gal Bitan, Shirley Steavenson, Paul E. Denis, Yunjen Young, Beverly Adler, Larry Daugherty, Raffi Manoukian, Gary Elliott, Wenyan Shen, Jane Talvenheimo, David B. Teplow, Mitsuru Haniu, Raj Haldankar, Jette Wypych, Christopher A. Ross, Martin Citron, William G. Richards   +20 more
doaj   +1 more source

Intrabody Gene Therapy Ameliorates Motor, Cognitive, and Neuropathological Symptoms in Multiple Mouse Models of Huntington's Disease [PDF]

, 2009
Huntington's disease (HD) is an autosomal dominant neurodegenerative disease resulting from the expansion of a glutamine repeat in the huntingtin (Htt) protein.
Ko, Jan, Patterson, Paul H., Southwell, Amber L.   +2 more
core   +2 more sources

Gene Silencing Therapies for Huntington’s Disease [PDF]

Neurology Letters
Huntington’s disease (HD) is a rare, autosomal‑dominant neurodegenerative disorder precipitated by a pathological expansion of CAG trinucleotide repeats in exon 1 of the huntingtin (HTT) gene.
Chunlan Hao, Hanfeng Ji
doaj   +1 more source

PolyQ-Expansion Causes Mitochondria Fragmentation Independent of Huntingtin and Is Distinct from Traumatic Brain Injury (TBI)/Mechanical Stress-Mediated Fragmentation Which Results from Cell Death

Cells, 2023
Mitochondrial dysfunction has been reported in many Huntington’s disease (HD) models; however, it is unclear how these defects occur. Here, we test the hypothesis that excess pathogenic huntingtin (HTT) impairs mitochondrial homeostasis, using Drosophila
Kelsey Swinter, Dania Salah, Rasika Rathnayake, Shermali Gunawardena   +3 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

A Systems Biology Approach towards Deciphering the Unfolded Protein Response in Huntington's Disease [PDF]

, 2012
Although the disease causing gene huntingtin has been known for some time, the exact cause of neuronal cell death during _Huntington's disease_ (HD) remains unknown.
Kameshwar R. Ayasolla, Matthias E. Futschik, Ravi K. R. Kalathur   +2 more
core   +2 more sources

Studying Huntington’s Disease in Yeast: From Mechanisms to Pharmacological Approaches

Frontiers in Molecular Neuroscience, 2018
Huntington’s disease (HD) is a neurodegenerative disorder that leads to progressive neuronal loss, provoking impaired motor control, cognitive decline, and dementia.
Sebastian Hofer, Katharina Kainz, Andreas Zimmermann, Andreas Zimmermann, Maria A. Bauer, Tobias Pendl, Michael Poglitsch, Frank Madeo, Frank Madeo, Didac Carmona-Gutierrez   +9 more
doaj   +1 more source

Huntingtin-mediated axonal transport requires arginine methylation by PRMT6

Cell Reports, 2021
Summary: The huntingtin (HTT) protein transports various organelles, including vesicles containing neurotrophic factors, from embryonic development throughout life. To better understand how HTT mediates axonal transport and why this function is disrupted
Alice Migazzi, Chiara Scaramuzzino, Eric N. Anderson, Debasmita Tripathy, Ivó H. Hernández, Rogan A. Grant, Michela Roccuzzo, Laura Tosatto, Amandine Virlogeux, Chiara Zuccato, Andrea Caricasole, Tamara Ratovitski, Christopher A. Ross, Udai B. Pandey, José J. Lucas, Frédéric Saudou, Maria Pennuto, Manuela Basso   +17 more
doaj   +1 more source