Results 41 to 50 of about 558,623 (254)

Generalized Dystonia With Cervical Predominance in a Patient With a De Novo TCF20 Variant

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT TCF20 has been implicated in developmental delay and intellectual disability, with dystonia reported less frequently. We describe a woman in her early twenties with childhood‐onset learning difficulties, progressive dysarthria, tremor, and generalized dystonia with marked cervical predominance, associated with a de novo TCF20 frameshift ...
Melisa Kilic, Petr Dusek, Ibrahim Kamaci, Bahar Gulmez, Gul Yalcin Cakmakli, Ersin Tan, Sibel Ugur Iseri, Zuhal Yapici   +7 more
wiley   +1 more source

Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Juvenile Huntington disease accounts for a small fraction of Huntington disease cases and is driven by the largest trinucleotide repeat expansions. We describe a 6‐year‐old boy with progressive global regression, generalized dystonia, and epilepsy, in whom serial imaging showed striking cerebellar‐predominant atrophy with an initially normal ...
Enrique Gonzalez Saez‐Diez, Amy Tam, Siofra Carty, Monica Ferrer Socorro, Kathryn Yang, Darius Ebrahimi‐Fakhari   +5 more
wiley   +1 more source

Time History Gaussian Process Regression for Modeling the Dynamics of Ankle Exoskeleton User Comfort

Advanced Robotics Research, EarlyView.
Exoskeletons need to be comfortable, but the perception of comfort may change over time. This study investigated if short‐term time history directly influences comfort. No previous trials’ input features were predictive of comfort. Including the previous trial's comfort score marginally improved model accuracy compared to a model using only the current
Axl Maberry, Bo Cheng, Anne E. Martin
wiley   +1 more source

Stress Hyperglycemia Drives CD4+ T Cell PANoptosis and Postoperative Organ Injury via Monocyte‐Derived Succinate

Advanced Science, EarlyView.
High glucose is linked to reduced succinate dehydrogenase activity in CD14+ monocytes, accompanied by succinate accumulation and extracellular release. Extracellular succinate exacerbates mitochondrial ROS production and mtDNA release in CD4+ T cells. Cytosolic mtDNA then activates Z‐DNA binding protein 1 (ZBP1) and engages ZBP1‐associated inflammatory
Shuai Zhao, Xuemei Miao, Wei Luo, Tao Liu, Yang Wang, Jiaying Li, Di Fu, Weiyun Shen, Yan Luo, Kang Chen, Ruping Dai, Hui Li   +11 more
wiley   +1 more source

Photobiomodulation‑Engineered Extracellular Vesicles Enhance Neural Differentiation via UFL1‑Mediated UFMylation in Spinal Cord Injury

Advanced Science, EarlyView.
Photobiomodulated microglia release engineered extracellular vesicles that deliver UFL1 to the injured spinal cord. UFL1 competitively binds p53 with MDM2, inhibiting p53 ubiquitination and stabilizing p53 signaling. This dual mechanism simultaneously promotes anti‐inflammatory microglial polarization and directs neural stem cell differentiation toward
Yunxiao Fang, Zuomeng Wu, Ruocheng Guo, Cancan Wang, Yue Qin, Yixiang Dong, Aoyun Li, Ao Liu, Chongyu Jia, Tianyu Han, Peiwen Song, Lei Chen, Cailiang Shen   +12 more
wiley   +1 more source

Molecular Glue Degraders Enhance CAPRIN1‐Dependent Lysosomal Degradation of APP and Reduce Amyloid β in Alzheimer's Disease

Advanced Science, EarlyView.
A new class of lysosome‐directed molecular glue degraders selectively enhance CAPRIN1–APP interactions, driving APP degradation and reducing amyloid‐β production in human neurons and Alzheimer's disease mouse models. This CAPRIN1‐dependent targeted protein degradation strategy reveals a previously unrecognized therapeutic approach for disrupting the ...
Sunghan Jung, Xu Wang, Bin Liu, Raktim Roy, Nancy Jaiswal, Ratan K. Rai, Yuichiro Takagi, Cen Gao, Lifan Zeng, Ho‐Yin Lo, Reagan K. Wohlford, Ryan K. Higgins, Bruce T. Lamb, Anantha Shekhar, Anita C. Bellail, Chunhai Hao   +15 more
wiley   +1 more source

β‐Adducin Restrains PLA2G4A‐Dependent Lysosomal Membrane Permeabilization and Neuronal Death in Ischemic Stroke

Advanced Science, EarlyView.
This study identifies β‐adducin as a regulator of lysosomal integrity in ischemic neurons. Ischemia‐associated FTO loss increases m6A modification and destabilizes Add2 mRNA, reducing β‐adducin expression and promoting PLA2G4A accumulation at lysosomes.
Hui‐qin Li, Pin‐yi Liu, Dan Wu, Fei‐yu Ma, Yi Bai, Sheng‐nan Xia, Hai‐yan Yang, Xin‐yu Bao, Yun Xu, Xiang Cao   +9 more
wiley   +1 more source

Gut Microbiota‐Derived Indole‐3‐Acetaldehyde Contributes to the Disease‐Alleviating Effects of Kurarinone in Experimental Autoimmune Encephalomyelitis

Advanced Science, EarlyView.
Kurarinone ameliorates EAE via the gut microbiota‐indole‐3‐acetaldehyde‐AhR axis. Kurarinone reshapes gut microbiota and increases Akkermansia muciniphila, which promotes intestinal indole‐3‐acetaldehyde production. Indole‐3‐acetaldehyde crosses the intestinal barrier, activates AhR in CD4+ T cells, upregulates SOCS1/3, inhibits JAK2 and STAT3/4 ...
Xinyan Han, Jiaqi Ding, Zonghao Pan, Weitai He, Xue Kang, Cong Zhao, Yi Li, Di Wu, Hongzeng Li, Kaixi Ren, Jiaji Lin, Jun Guo   +11 more
wiley   +1 more source

Association of maternal tocolysis or antenatal corticosteroids with cerebral palsy: a study protocol [PDF]

, 2017
Cerebral palsy (CP) is the most common developmental disorder associated with lifelong motor impairment and disability. Although severe intrapartum hypoxia/ischaemia during birth may be instrumental in the causal pathway leading to cerebral palsy this ...
Algert, Charles S., Kenyon, Sara, Brocklehurst, Peter, Roberts, Christine L., Morris, Jonathan M.   +4 more
core  

Astrocytic Ketogenesis Protects Central Nervous System Injury via CPT1A Stabilization and Epigenetic Regulation

Advanced Science, EarlyView.
A distinct astrocyte subpopulation, enriched at the lesion border, drives CNS repair through enhanced ketone body metabolism. This process promotes neuronal survival and axonal sparing via CPT1A stabilization and H3K9bhb‐dependent epigenetic reprogramming, positioning astrocytic ketogenesis as a promising therapeutic target for tissue regeneration ...
Dishui Pan, Haoming Shu, Rui Gao, Yilong Ren, Wu Ye, Xuhui Ge, Yao Gu, Yufeng Zhu, Xiaokun Wang, Honglin Teng, Xuhui Zhou, Wei Liu, Yang Gao, Jianquan Zhao, Weihua Cai   +14 more
wiley   +1 more source