Results 91 to 100 of about 10,552,439 (323)

The breaking point where repeat expansion triggers neuronal collapse in Huntington’s disease

Cell Genomics
Somatic CAG expansion drives neuronal loss in Huntington’s disease (HD), but how expansion results in pathogenesis has remained unclear. Handsaker et al.1 use single-cell RNA and repeat length sequencing to reveal a phased model of expansion and toxicity,
Michael D. Flower, Sarah J. Tabrizi
doaj   +1 more source

Huntington’s Disease Quality of Life Battery for Carers--Short Form [PDF]

, 2019
The Huntington’s Disease Quality of Life Battery for Carers--Short Form (HDQoL-Cs; Aubeeluck et al., 2019) was adapted from the Huntington’s Disease Quality of Life Battery for Carers (HDQoL-C; Aubeeluck & Buchanan, 2005, 2007) to examine the caregiving ...
Alis C. Hughes, Bernhard Landwehrmeyer, Lucienne van der Meer, Aileen K. Ho, Aimee Aubeeluck, Stupple, E., Malcolm B. Schofield   +6 more
core   +1 more source

Palmitoylation of PSD‐95 Orchestrates Learning‐Dependent Metaplasticity in the Amygdala and Fear Memory

Advanced Science, EarlyView.
This study reveals that fear learning specifically triggers PICK1/DHHC2‐dependent palmitoylation of PSD‐95 in the lateral amygdala. Fear conditioning induces the dissociation of DHHC5 from PSD‐95 and the association of PSD‐95 with DHHC2. DHHC2‐mediated palmitoylation of PSD‐95 is required for synaptic transmission and underlies fear learning–induced ...
Zu‐Cheng Shen, Yu‐Xuan Weng, Zhi‐Xuan Xia, Yue‐Ling Zhao, Qian‐Qian Ding, Si‐Ying Wang, Ting Cao, Xuan‐Ying Chen, Wu‐Cheng Tao, Shen Lin, Zhou Chen, Yi‐Xiao Luo   +11 more
wiley   +1 more source

Genetic modifiers of somatic expansion and clinical phenotypes in Huntington’s disease reveal shared and tissue-specific effects [PDF]

An inherited, expanded CAG repeat in HTT undergoes further somatic expansion to cause Huntington’s disease (HD). To gain insights into this molecular mechanism, we compared genome-wide association studies of somatic expansion in blood and somatic ...
Genetic Modifiers of Huntington’s Disease (GeM-HD) Consortium
core   +4 more sources

Juvenile Huntington’s disease

Анналы клинической и экспериментальной неврологии, 2017
Juvenile Huntingtons disease (JHD) manifests in 1st2nddecades of life and accounts for 29% of all cases ofHuntingtons disease; its pathogenic mechanisms are related togenetic anticipation and imprinting.
G. E. Rudenskaya, D. A. Savvin, V. P. Fedotov, S. A. Kurbatov, A. V. Polyakov, N. M. Galeeva   +5 more
doaj   +1 more source

Neurofilament light protein in blood as a potential biomarker of neurodegeneration in Huntington's disease: a retrospective cohort analysis

Lancet Neurology, 2017
Summary Background Blood biomarkers of neuronal damage could facilitate clinical management of and therapeutic development for Huntington's disease. We investigated whether neurofilament light protein NfL (also known as NF-L) in blood is a potential ...
L. Byrne, F. B. Rodrigues, K. Blennow, A. Durr, B. Leavitt, R. Roos, R. Scahill, S. Tabrizi, H. Zetterberg, D. Langbehn, E. Wild   +10 more
semanticscholar   +1 more source

Molecular and Cellular Hallmarks of Age‐Related Vestibular Hair Cell Degeneration

Advanced Science, EarlyView.
This study utilizes single‐cell RNA‐seq transcriptomes, advanced imaging, and electrophysiology to examine universal and cell‐type‐specific aging signatures of vestibular hair cells. The study shows that impaired hair bundle function is a key driver of age‐related vestibular dysfunction.
Samadhi Kulasooriya, Huizhan Liu, Sarath Vijayakumar, Celia Bloom, Zhenhang Xu, Shu Tu, Benjamin J. Borgmeier, Mi Zhou, Litao Tao, Bechara Kachar, David Z. He   +10 more
wiley   +1 more source

Mutant Huntingtin Does Not Affect the Intrinsic Phenotype of Human Huntington's Disease T Lymphocytes.

PLoS ONE, 2015
Huntington's disease is a fatal neurodegenerative condition caused by a CAG repeat expansion in the huntingtin gene. The peripheral innate immune system is dysregulated in Huntington's disease and may contribute to its pathogenesis.
James R C Miller, Ulrike Träger, Ralph Andre, Sarah J Tabrizi   +3 more
doaj   +1 more source

Loss of striatal type 1 cannabinoid receptors is a key pathogenic factor in Huntington’s disease [PDF]

, 2010
Endocannabinoids act as neuromodulatory and neuroprotective cues by engaging type 1 cannabinoid receptors. These receptors are highly abundant in the basal ganglia and play a pivotal role in the control of motor behaviour. An early downregulation of type
García de Yébenes, Justo, Chiarlone, Anna, Sendtner, Michael, Salazar, María, Ruiz, Carolina, Romero, Julián, Manuel Guzmán, Palazuelos Diego, Javier, Javier Fernández-Ruiz, Fernández Ruiz, José Javier, Pazos, Ruth, Börner, Christine, Boris Julien, Kraus, Jürgen, Onintza Sagredo, M. Ruth Pazos, Krisztina Monory, Cristina Blázquez, Jürgen Kraus, Guzmán Pastor, Manuel, Cristina Benito, Blázquez Ortiz, Cristina, Giovanni Marsicano, Justo G. de Yébenes, Sagredo Ezquioga, Onintza, Lutz, Beat, Aguado Sánchez, Tania, Carolina Carrasco, Resel, Eva, María Diez-Zaera, Ginés, Silvia, Julien, Boris, Marsicano, Giovanni, Galve Roperh, Ismael, Carolina Ruiz, Julián Romero, Monory, Krisztina, Paoletti, Paola, Ismael Galve-Roperh, Anna Chiarlone, Benito, Cristina, Diez Zaera, María, Javier Palazuelos, Carrasco, Carolina, Lucas, José, Paola Paoletti, Jordi Alberch, Díaz Hernández, Miguel, Beat Lutz, José J. Lucas, Eva Resel, María Salazar, Silvia Ginés, Alberch, Jordi, Tania Aguado, Miguel Díaz-Hernández, Michael Sendtner, Christine Börner   +57 more
core   +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