Results 51 to 60 of about 22,598 (233)

Huntingtin is critical both pre- and postsynaptically for long-term learning-related synaptic plasticity in Aplysia. [PDF]

PLoS ONE, 2014
Patients with Huntington's disease exhibit memory and cognitive deficits many years before manifesting motor disturbances. Similarly, several studies have shown that deficits in long-term synaptic plasticity, a cellular basis of memory formation and ...
Yun-Beom Choi, Beena M Kadakkuzha, Xin-An Liu, Komolitdin Akhmedov, Eric R Kandel, Sathyanarayanan V Puthanveettil   +5 more
doaj   +1 more source

Isolation of a 40-kDa Huntingtin-associated Protein [PDF]

Journal of Biological Chemistry, 2001
Huntington's disease is caused by an expanded CAG trinucleotide repeat coding for a polyglutamine stretch within the huntingtin protein. Currently, the function of normal huntingtin and the mechanism by which expanded huntingtin causes selective neurotoxicity remain unknown. Clues may come from the identification of huntingtin-associated proteins (HAPs)
M F, Peters, C A, Ross
openaire   +2 more sources

Cardiac dysfunction in the R6/2 mouse model of Huntington’s disease

Neurobiology of Disease, 2007
Recent evidence suggests that mutant huntingtin protein-induced energetic perturbations contribute to neuronal dysfunction in Huntington’s disease (HD). Given the ubiquitous expression of huntingtin, other cell types with high energetic burden may be at ...
Michael J. Mihm, Deborah M. Amann, Brandon L. Schanbacher, Ruth A. Altschuld, John Anthony Bauer, Kari R. Hoyt   +5 more
doaj   +1 more source

Huntington disease: Advances in the understanding of its mechanisms

Clinical Parkinsonism & Related Disorders, 2020
Huntington disease (HD) is a devastating monogenic autosomal dominant disorder. HD is caused by a CAG expansion in exon 1 of the gene coding for huntingtin, placed in the short arm of chromosome 4.
Emilia M. Gatto, Natalia González Rojas, Gabriel Persi, José Luis Etcheverry, Martín Emiliano Cesarini, Claudia Perandones   +5 more
doaj   +1 more source

DISC1 and Huntington's disease--overlapping pathways of vulnerability to neurological disorder? [PDF]

PLoS ONE, 2011
We re-annotated the interacting partners of the neuronal scaffold protein DISC1 using a knowledge-based approach that incorporated recent protein interaction data and published literature to. This revealed two highly connected networks.
Ruth Boxall, David J Porteous, Pippa A Thomson   +2 more
doaj   +1 more source

Molecular mechanisms of heterogeneous oligomerization of huntingtin proteins [PDF]

Scientific Reports, 2019
AbstractThere is still no successful strategy to treat Huntington’s disease, an inherited autosomal disorder associated with the aggregation of mutated forms of the huntingtin protein containing polyglutamine tracts with more than 36 repeats. Recent experimental evidence is challenging the conventional view of the disease by revealing transcellular ...
Silvia Bonfanti, Maria Chiara Lionetti, Maria Rita Fumagalli, Venkat R. Chirasani, Guido Tiana, Nikolay V. Dokholyan, Stefano Zapperi, Caterina A. M. La Porta   +7 more
openaire   +3 more sources

Ataxin-1 fusion partners alter polyQ lethality and aggregation [PDF]

, 2007
Intranuclear inclusion bodies (IBs) are the histopathologic markers of multiple protein folding diseases. IB formation has been extensively studied using fluorescent fusion products of pathogenic polyglutamine (polyQ) expressing proteins.
Rich, T., Varadaraj, A., Archana Varadaraj, Varadaraj Archana, Tina Rich, Rich Tina   +5 more
core   +1 more source

Depletion of CBP is directly linked with cellular toxicity caused by mutant huntingtin

Neurobiology of Disease, 2006
Huntington's disease is a neurodegenerative disease caused by an expanded polyglutamine stretch within the huntingtin protein. Transfection of mutant huntingtin causes cell toxicity and depletion of CREB binding protein (CBP) or its recruitment into ...
Haibing Jiang, Michelle A. Poirier, Yideng Liang, Zhong Pei, Charlotte E. Weiskittel, Wanli W. Smith, Donald B. DeFranco, Christopher A. Ross   +7 more
doaj   +1 more source

Functional and Structural Evidence of Neurofluid Circuit Aberrations in Huntington Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Disrupted neurofluid regulation may contribute to neurodegeneration in Huntington disease (HD). Because neurofluid pathways influence waste clearance, inflammation, and the distribution of central nervous system (CNS)–delivered therapeutics, understanding their dysfunction is increasingly important as targeted treatments emerge.
Kilian Hett, Abigail Dubois, Melanie Leguizamon, Alexander Song, Paula Trujillo, Colin D. McKnight, Ciaran M. Considine, Manus J. Donahue, Daniel O. Claassen   +8 more
wiley   +1 more source

Huntingtin and Its Partner Huntingtin-Associated Protein 40: Structural and Functional Considerations in Health and Disease

Journal of Huntington's Disease, 2022
Since the discovery of the mutation causing Huntington’s disease (HD) in 1993, it has been debated whether an expanded polyglutamine (polyQ) stretch affects the properties of the huntingtin (HTT) protein and thus contributes to the pathological mechanisms responsible for HD.
Seefelder, Manuel, Klein, Fabrice A. C., Landwehrmeyer, Bernhard, Fernández Busnadiego, Rubén, Kochanek, Stefan   +4 more
openaire   +4 more sources