Results 41 to 50 of about 85,333 (258)

ALDOA Promotes Glycolysis and NLRP3/GSDMD Pyroptosis to Accelerate ALS Progression

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is characterized by progressive motor neuron degeneration. Glycolytic dysregulation is implicated in disease progression, yet the underlying mechanisms remain unclear. This study investigates how Aldolase A (ALDOA) drives ALS progression through glycolysis‐mediated motor neuron pyroptosis.
Kaixin Yan, Yan Jiang, Yuxuan Yong, Tianshuo Zhang, Niannian Zhang, Qianqian Zeng, Xue Gong, Li Meng, Fangfang Bi, Yongmin Liu   +9 more
wiley   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Recurrent Hypothermia and Autonomic Dysfunction Secondary to Shapiro Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT A 44‐year‐old man presented with recurrent hypothermia, diaphoresis and hypertension. Extensive investigation for infectious, inflammatory, metabolic and endocrine aetiologies was negative. MR scan of the brain demonstrated no lesions but revealed callosal dysgenesis, consistent with Shapiro syndrome.
Naveen Kumar, Jeremy Johnson, Susanne Watkins, Eoin Mulroy   +3 more
wiley   +1 more source

Digital Cognitive Testing in Mitochondrial Disease: Validity and Challenges for Clinical Trial Use

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Primary mitochondrial disease is a group of genetic disorders caused by pathogenic variants in nuclear or mitochondrial DNA, often resulting in progressive neurodegeneration and cognitive decline. Current management is primarily supportive, though recent research offers hope for disease‐modifying treatments in the future.
Oksana Pogoryelova, Jan Smeitink, Herma Renkema, Rosabeth White, Frankie Barton, Rachel Lyon, Jane Newman, Aye Moe, Yi Shiau Ng, Grainne Siobhan Gorman   +9 more
wiley   +1 more source

Neurological, Neurodevelopmental and Treatment Outcomes in Patients With Pyruvate Dehydrogenase Complex Deficiency

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of this study was to characterize intellectual and motor function, neurological features including epilepsy, treatment response, and adaptive behavior in patients with pyruvate dehydrogenase complex deficiency (PDCD) in Sweden.
Antri Savvidou, Colin Reilly, Kalliopi Sofou, Sofia Ygberg, Erik A. Eklund, Karin Naess, Niklas Darin   +6 more
wiley   +1 more source

Pathogenesis of Metabolic Acidosis in Preterm Infants [PDF]

Indian Journal of Neonatal Medicine and Research, 2013
Objective: To determine how the balance between mineral base, and carbonic and organic acids is altered to cause metabolic acidosis in preterm infants. Study Design: Mineral balance and arterial blood measurements of 3 groups of preterm infants given
Christopher Geoffrey Alexander Aiken
doaj   +1 more source

A Novel Perfused Full‐Thickness Human Skin Microphysiological System for Modeling Injury, Regeneration, Tumor Pathophysiology, and Therapeutics Development

Advanced Healthcare Materials, EarlyView.
What if human skin could remain fully alive and functional outside the body for weeks? A New Alternative Method (NAM) based on a vascularized full‐thickness skin microphysiological system achieves precisely this, preserving native vasculature, resident immunity, and metabolic activity for up to three weeks, while faithfully recapitulating radiation ...
Yusuf Surucu, Hamid Malekzadeh, Alexa Rivera Del Rio Hernandez, Naresh Mahajan, Ethan Banks, Dayyan Ur Rahman, José A. Arellano, Katherine S. Yang, Alexey Altman, G.V. Naveen Kumar, Matthew L. Steinhauser, Jeffrey A. Gusenoff, J. Peter Rubin, Asim Ejaz   +13 more
wiley   +1 more source

Severe traumatic brain injury in children – are the results improving?

Swiss Medical Weekly, 2002
Questions under study: Traumatic brain injury (TBI) remains an important cause of mortality and morbidity in children. Medical management is constantly being refined, and thus results should improve.
Jürg Pfenninger, Alessandro Santi
doaj   +1 more source

Phosphorylation‐Facilitated CKB Lactylation At K11 By GCN5 Enhances Creatine Kinase Activity and Mitigates Neuronal Damage After Cerebral Ischemia‐Reperfusion

Advanced Science, EarlyView.
This study uncovers hierarchical coordination between K11 lactylation and S199 phosphorylation of CKB in cerebral ischemia‐reperfusion injury. Such dual modifications potentiate CKB enzymatic function, remodel energy metabolism, alleviate oxidative stress and neuronal damage, and represent a viable therapeutic target for stroke treatment.
Chao Duan, Ruolin Zhang, Shihui Ding, Ying Feng, Tao Shen, Ziwei Wang, Wendai Bao, Ke Shui, Jun Qin, Jun Chen, Min Zhang, Zijing Ren, Dongmei Zhao, Xingrong Guo, Zhibing Ai, Xin Yang, Peiyang Zhou, Zhiqiang Dong   +17 more
wiley   +1 more source

An Energy Autonomous Microneedle Array‐Based Sensing System for Continuous Biomarker Monitoring

Advanced Science, EarlyView.
This work presents an innovative self‐powered wearable biosensor system for real‐time monitoring of multiple biomarkers in interstitial fluid. The device integrates stainless steel‐based minimally invasive microneedles with ion‐selective membranes, enabling simultaneous Na+, K+, Ca2+, pH, and glucose detection.
Arnab Pal, Kai‐Po Fan, Sheng‐Chun Hung, Jaba Roy Chowdhury, Jun‐Hsun Chung, Meenakshi Ray, Hsiang‐Yun Hsu, Fu‐Cheng Kao, Kuei‐Lin Liu, Zong‐Hong Lin   +9 more
wiley   +1 more source