Results 1 to 10 of about 3,376,711 (176)

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   +2 more sources

Decoding neuronal vulnerability: Multidimensional analysis of D1R- and D2R- medium-sized spiny neurons in Huntington's disease. [PDF]

Brain Pathol
D1R and D2R MSNs show distinct responses to Huntington's pathology. G&T‐sequencing of pre‐symptomatic MSNs reveals global LINE‐1 downregulation. While D1R‐MSNs display early transcriptomic changes (OXPHOS/translation upregulation) and reduced mutant huntingtin aggregation, D2R‐MSNs exhibit higher nuclear mHTT accumulation and greater CAG somatic ...
Bergonzoni G, Pellegrini M, Savino A, Lazioli M, Geurs S, Graziani L, Ferrarini D, Tusi SK, Oliver E, Geurts J, Vinciguerra S, Tebaldi M, Tripathi T, Pesce I, Poli V, Romanel A, Moratalla R, Voet T, Morandell J, Sanges R, Wheeler VC, Dassi E, Biagioli M.   +22 more
europepmc   +2 more sources

Phosphorylation of huntingtin at residue T3 is decreased in Huntington’s disease and modulates mutant huntingtin protein conformation [PDF]

Proceedings of the National Academy of Sciences of the United States of America, 2017
Hilal A Lashuel, Elena Cattaneo, Ferdinando Squitieri   +2 more
exaly   +2 more sources

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