Results 1 to 10 of about 5,553,804 (280)

Quantification of mutant huntingtin protein in cerebrospinal fluid from Huntington's disease patients. [PDF]

J Clin Invest, 2015
Quantification of disease-associated proteins in the cerebrospinal fluid (CSF) has been critical for the study and treatment of several neurodegenerative disorders; however, mutant huntingtin protein (mHTT), the cause of Huntington's disease (HD), is at ...
Wild EJ, Boggio R, Langbehn D, Robertson N, Haider S, Miller JR, Zetterberg H, Leavitt BR, Kuhn R, Tabrizi SJ, Macdonald D, Weiss A.   +11 more
europepmc   +3 more sources

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   +4 more sources

ER stress-induced eIF2-alpha phosphorylation underlies sensitivity of striatal neurons to pathogenic huntingtin. [PDF]

PLoS ONE, 2014
A hallmark of Huntington's disease is the pronounced sensitivity of striatal neurons to polyglutamine-expanded huntingtin expression. Here we show that cultured striatal cells and murine brain striatum have remarkably low levels of phosphorylation of ...
Julia Leitman, Boaz Barak, Ron Benyair, Marina Shenkman, Uri Ashery, F Ulrich Hartl, Gerardo Z Lederkremer   +6 more
doaj   +15 more sources

The Ubiquitin-Proteasome Pathway in Huntington's Disease [PDF]

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   +3 more sources

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   +2 more sources

Comparison of Modules of Wild Type and Mutant Huntingtin and TP53 Protein Interaction Networks: Implications in Biological Processes and Functions [PDF]

, 2013
Disease-causing mutations usually change the interacting partners of mutant proteins. In this article, we propose that the biological consequences of mutation are directly related to the alteration of corresponding protein protein interaction networks ...
Mahashweta Basu, Nitai P. Bhattacharyya, P. K. Mohanty   +2 more
openalex   +6 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

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

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

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