Results 41 to 50 of about 3,376,711 (176)

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

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

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   +2 more sources

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

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

Structural Polymorphism of polyG Inclusions Revealed by In Situ Cryo‐Electron Tomography

Advanced Science, EarlyView.
Correlative cryo‐electron tomography in primary cortical neurons and NIID mouse brain tissue reveals that polyG inclusions are interconnected ribbon‐like assemblies rather than canonical amyloid fibrils. Multiple compartment‐specific ribbon states show distinct 26S proteasome accessibility, while cytoplasmic ribbons contact and deform ER‐like ...
Yunwen Qian, Yalan Wan, Chen Chen, Xiaoyu Zheng, Wenjing Du, Junhan Yang, Zhihao Quan, Biyu Yang, Jiaxi Yu, Jie Zheng, Zhaoxia Wang, Jianwen Deng, Qiang Guo   +12 more
wiley   +1 more source

The HD Mutation Does Not Alter Neuronal Death in the Striatum of HdhQ92 Knock-in Mice after Mild Focal Ischemia

Neurobiology of Disease, 2002
Huntington's disease, with its dominant loss of striatal neurons, is triggered by an expanded glutamine tract in huntingtin. To investigate a proposed role for increased activation of the apoptotic cascade in mutant huntingtin's trigger mechanism, we ...
Shobu Namura, Lorenz Hirt, Vanessa C. Wheeler, Kim M. McGinnis, Paige Hilditch-Maguire, Michael A. Moskowitz, Marcy E. MacDonald, Francesca Persichetti   +7 more
doaj   +1 more source

PolyG Fibrils Coalesce Into Nuclear Ribbons That Engage Proteostasis Machinery in Neuronal Intranuclear Inclusion Disease

Advanced Science, EarlyView.
In NIID, expanded NOTCH2NLC repeats give rise to nuclear polyG inclusions. Tracer‐guided in situ cryo‐electron tomography enables cross‐scale structural analysis from mouse brain to native neuronal nuclei, revealing dense‐core/peripheral‐halo inclusions built from compact polyG ribbons.
Hui Dong, Yongcheng Pan, Zhiyao Tang, Yuxuan Yao, Guicong Zhang, Junpu Wang, Haonan Xiao, Yun Tian, Beisha Tang, Dan Li, Qiang Guo, Ruijun Tian, Qiong Liu, Cong Liu   +13 more
wiley   +1 more source

The role of glia in protein misfolding diseases

, 2010
The astrocytes, oligodendrocytes and microglia make up a significant proportion of the cells of the CNS. In recent years, there has been a burgeoning interest in the role of glial cells, in neurodegenerative disease.
Samson, Ben
core   +2 more sources

Palmitoyl Acyltransferase Zdhhc17 Promotes Functional Recovery After Spinal Cord Injury by Targeting the Nuclear Transport Factors Kpna2 and Ipo9

Advanced Science, EarlyView.
In this study, we demonstrate that Zdhhc17, acting as a PAT, suppresses neuronal apoptosis and promotes axon regeneration after injury, thereby enhancing functional recovery following SCI. In this context, Kpna2 and Ipo9 serve as novel palmitoylation substrates of Zdhhc17, whose palmitoylation prevents the injury‐induced degradation of their proteins ...
Meixuan Chen, Huan Chen, Sining Ding, Fan Liu, Xiaofei Zheng, Yuan Wang, Ruitu Tian, Huan Li, Peilin Liu, Le Hu, Bin Liu, Limin Rong, Mangmang Li   +12 more
wiley   +1 more source