Results 201 to 210 of about 3,039,728 (253)

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

The Comprehensive Live Cell‐Based Cytotoxicity Assay for Monitoring Disease Activity and Guiding Rescue Therapy in Acute Attacks of NMOSD

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuromyelitis optica spectrum disorder (NMOSD) is a devastating neurological disease that lacks serological biomarkers that can accurately reflect disease activity. We established a live cell‐based assay (LCBA) using serum with endogenous complement to quantify the overall cytotoxicity, offering a novel functional tool for monitoring
Xiaona Xu, Jie Ding, Yupeng Du, Guibao Luo, Jinming Li, Rui Liu, Xiaoyi Xu, Xiao Li, Minshu Li, Wei Jiang, Chunsheng Yang   +10 more
wiley   +1 more source

Nationwide Survey of Association Between Fever and Epileptic Seizure in CDKL5 Deficiency Disorder Revealed Therapeutic Implications

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective CDKL5 deficiency disorder (CDD) is a rare, severe developmental and epileptic encephalopathy. There is a pressing need to develop effective and sustainable therapeutic strategies. We aimed to investigate the causal association between febrile episodes and epileptic seizures for therapeutic implications in CDD patients.
Siyi Wang, Jialin Du, Jinghui Liu, Dongmei Hu, Hongxin Wang, Xiaoxiao Man, Lehong Gao, Shimin Hu, Xianghong Meng, Hongyang Zhao, Minjing Hu, Yingxue Yang, Zhiqi Xiong, Liankun Ren   +13 more
wiley   +1 more source

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

Gene Cloning, Recombinant Expression, Characterization, and Molecular Modeling of the Glycolytic Enzyme Triosephosphate Isomerase from Fusarium oxysporum. [PDF]

Microorganisms, 2019
Hernández-Ochoa B, Gómez-Manzo S, Alcaraz-Carmona E, Serrano-Posada H, Centeno-Leija S, Arreguin-Espinosa R, Cuevas-Cruz M, González-Valdez A, Mendoza-Espinoza JA, Acosta Ramos M, Cortés-Maldonado L, Montiel-González AM, Pérez de la Cruz V, Rocha-Ramírez LM, Marcial-Quino J, Sierra-Palacios E.   +15 more
europepmc   +1 more source

PCGF1 Promotes the Tumorigenesis of Malignancies Through Upregulating CCDC34 in Glioma

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Polycomb group factor 1 (PCGF1) and coiled‐coil domain‐containing protein 34 (CCDC34) have been implicated in tumorigenesis in multiple malignancies. However, their biological functions and prognostic significance in glioma remain poorly defined.
Yuanbing Chen, Jianbing Xiong, Ziran Ou, Tianhao Zhao, Hui Li, Jun Huang, Zhi Tian, Wuyang Cao   +7 more
wiley   +1 more source

A New Escherichia coli Entry Vector Series (pIIS18) for Seamless Gene Cloning Using Type IIS Restriction Enzymes. [PDF]

Microbiol Resour Announc, 2019
Altaib H, Ozaki Y, Kozakai T, Badr Y, Nomura I, Suzuki T.   +5 more
europepmc   +1 more source

Conformational Switching of Proteins on Material Surfaces Enabled by Peptide‐Oriented Adsorption

Advanced Functional Materials, EarlyView.
Responsive biointerfaces could be achieved using conformationally responsive proteins; however, their interconversion can be lost upon surface adsorption. Herein, we demonstrate that the incorporation a Au binding peptide into calmodulin allows for binding control on Au wherein the protein retains conformational switching. This capability was confirmed
Sakthirupini Ramamurthy, Kyle B. Meerbott, Lorenzo Travaglini, Garima S. Dobhal, Artur Sawicki, Marc R. Knecht, Tiffany R. Walsh, Dominic J. Glover   +7 more
wiley   +1 more source

Myogenic Fusogen‐Engineered Lipid Nanoparticles Enhance mRNA Delivery in Skeletal Muscle

Advanced Functional Materials, EarlyView.
This study reports a biomimetic strategy of engineering full‐length Myomaker, a muscle‐specific fusogen, into lipid nanoparticles (LNPs) to harness the native myoblast fusion capability for skeletal muscle mRNA delivery. The resulting Mymk‐LNPs enhance transfection in differentiating myocytes and enable Cre‐mediated reporter activation in injured ...
Fangyu Zhang, Zhisheng Xu, Yaou Duan, Yehui Sun, Shiying Wu, Tao Long, Mateusz Durbacz, Li Zhang, Yufen Xiao, Yu‐Chung Pien, Erick D. Guerrero, Zeru Tian, Xu Wang, Pratima Basak, Sumanta Chatterjee, Ning Liu, Xiaochun Li, Eric N. Olson, Daniel J. Siegwart   +18 more
wiley   +1 more source