Results 1 to 10 of about 796 (70)

Effect of post-mortem delay on N-terminal huntingtin protein fragments in human control and Huntington disease brain lysates. [PDF]

PLoS ONE, 2017
Huntington disease is associated with elongation of a CAG repeat in the HTT gene that results in a mutant huntingtin protein. Several studies have implicated N-terminal huntingtin protein fragments in Huntington disease pathogenesis.
Menno H Schut, Stefano Patassini, Eric H Kim, Jocelyn Bullock, Henry J Waldvogel, Richard L M Faull, Barry A Pepers, Johan T den Dunnen, Gert-Jan B van Ommen, Willeke M C van Roon-Mom   +9 more
doaj   +1 more source

Cysteine String Protein Controls Two Routes of Export for Misfolded Huntingtin

Frontiers in Neuroscience, 2022
Extracellular vesicles (EVs) are secreted vesicles of diverse size and cargo that are implicated in the cell-to-cell transmission of disease-causing-proteins in several neurodegenerative diseases.
Desmond Pink, Julien Donnelier, John D. Lewis, John D. Lewis, Janice E. A. Braun   +4 more
doaj   +1 more source

Full-length huntingtin is palmitoylated at multiple sites and post-translationally myristoylated following caspase-cleavage

Frontiers in Physiology, 2023
Introduction: Huntington disease is an autosomal dominant neurodegenerative disorder which is caused by a CAG repeat expansion in the HTT gene that codes for an elongated polyglutamine tract in the huntingtin (HTT) protein.
Fanny L. Lemarié, Shaun S. Sanders, Yen Nguyen, Dale D. O. Martin, Michael R. Hayden   +4 more
doaj   +1 more source

Huntington’s Disease—An Outlook on the Interplay of the HTT Protein, Microtubules and Actin Cytoskeletal Components

Cells, 2020
Huntington’s disease is a severe and currently incurable neurodegenerative disease. An autosomal dominant mutation in the Huntingtin gene (HTT) causes an increase in the polyglutamine fragment length at the protein N-terminus.
Aleksandra S. Taran, Lilia D. Shuvalova, Maria A. Lagarkova, Irina B. Alieva   +3 more
doaj   +1 more source

Detection of ubiquitinated huntingtin species in intracellular aggregates

Frontiers in Molecular Neuroscience, 2015
Protein conformation diseases, including polyglutamine diseases, result from the accumulation and aggregation of misfolded proteins. Huntington’s disease is one of nine diseases caused by an expanded polyglutamine repeat within the affected protein and ...
Katrin eJuenemann, Anne eWiemhoefer, Eric eReits   +2 more
doaj   +1 more source

Brain-Derived Neurotrophic Factor Dysregulation as an Essential Pathological Feature in Huntington’s Disease: Mechanisms and Potential Therapeutics

Biomedicines, 2023
Brain-derived neurotrophic factor (BDNF) is a major neurotrophin whose loss or interruption is well established to have numerous intersections with the pathogenesis of progressive neurological disorders.
Andrew Speidell, Noman Bin Abid, Hiroko Yano   +2 more
doaj   +1 more source

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

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  

The Ubiquitin-Proteasome Pathway in Huntington's Disease

The Scientific World Journal, 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.
Siddhartha Mitra, Steven Finkbeiner
doaj   +1 more source