Results 81 to 90 of about 2,496,873 (280)

Lysosomal Storage Disease

, 2009
We report a case of lysosomal storage disease diagnosed by lysosomal enzyme assay in a two year old boy with a history of gradual onset of weakness of body, poor vision, fl accid neck and spasticity in all four limbs with hyper-refl exia.
A Pokharel, Binod Khatiwada
core   +1 more source

Lysosomal Storage Disease (LSDs) [PDF]

, 2015
How to Cite this Article: Ghofrani M. Lysosomal Storage Disease (LSDs). Iran J Child Neurol.
GHOFRANI, Mohammad
core   +1 more source

An Aggregation‐Induced Polymerization Poly(Disulfide)‐Drug Nanoplatform for Autoimmune Uveitis Therapy via Inhibiting the cGAS‐STING Pathway

Advanced Science, EarlyView.
A cationic poly(disulfide)‐drug nanoplatform (LA/DexP) was developed to treat experimental autoimmune uveitis (EAU). With potent blood‐retinal barrier penetrability, LA/DexP releases DSP in response to high ROS and scavenges cfDNA to inhibit the cGAS‐STING signaling pathway.
Yuelan Wu, Wenbo Geng, Qinjin Dai, Wanyun Zhang, Yuxian Lai, Pei Zhang, Chunjiang Zhou, Yinuo Wang, Qingfeng Cao, Xiang Luo, Yujie Lai, Changwei Huang, Peizeng Yang   +12 more
wiley   +1 more source

Cholesterol Ester Storage Disease in Two Field Spaniels With Lysosomal Acid Lipase Deficiency

Journal of Veterinary Internal Medicine
Cholesterol ester storage disease (CESD) is a rare genetic lysosomal storage disorder resulting from lower lysosomal acid lipase (LAL) activity. LAL is an essential enzyme required in intracellular lipid metabolism, and deficiency results in disability ...
Pernilla Syrjä, Mathilda M. H. Ylenius, Matilda Kråkström, Alex M. Dickens, Elina Rautala, Anna Huupponen, Anders Eriksson, Sanna J. Viitanen   +7 more
doaj   +1 more source

Lysosomal Storage Diseases: Heterogeneous Group of Disorders [PDF]

, 2013
The name of lysosomal storage diseases stems from the fact that in this category of disorders specific undegraded materials are stored in the lysosomes.
David A. Wenger, Paola Luzi, Mohammad A. Rafi   +2 more
core   +1 more source

Reorganization of Innate Immune Cell Lipid Profiles by Bioinspired Meroterpenoids to Limit Inflammation

Advanced Science, EarlyView.
Resolution pharmacology is an emerging strategy to tackle inflammatory pathologies. Bioinspired meroterpenoids induce a lipid mediator class switch toward inflammation resolution in vitro and in vivo by targeting key nodes in lipid mediator biosynthesis and neutral lipid dynamics.
Lorenz Waltl, David Holubek, Klaus Speck, Raphael Wildermuth, Franz‐Lucas Haut, Stephan Permann, Immanuel Plangger, Christian Steinborn, Zhigang Rao, Danilo D'Avino, Ida Cerqua, Julia Stadler, Fiorentina Roviezzo, Peter Schlenke, Anita Siller, Harald Schennach, Solveigh C. Koeberle, Eva‐Maria Pferschy‐Wenzig, Antonietta Rossi, Thomas Magauer, Andreas Koeberle   +20 more
wiley   +1 more source

Intranasal Delivery of Gallium–Quercetin Nanoparticles for Multi‐Target Ferroptosis Inhibition in Parkinson's Disease

Advanced Science, EarlyView.
Leveraging the chemical similarity between Ga3+ and Fe3+ as well as the antioxidant properties of quercetin, gallium–quercetin nanoparticles (GQNPs) were prepared to integrate iron homeostasis regulation, oxidative stress suppression, and mitochondrial protection for multi‐target ferroptosis inhibition in Parkinson's Disease.
Keyang Xu, Dandan Kou, Xiao Xiao, Bingbing Bai, Caide Liu, Mengyao Wu, Yadan Shi, Mengdan Xu, Xiaoyi Cao, Haodi Qi, Shuhua Wu, Jianfeng Zeng, Mingyuan Gao   +12 more
wiley   +1 more source

RNA Promotes Synapsin Condensates That Organize Synaptic Vesicles in Live Neurons and Enable Localized Translation in Reconstituted System

Advanced Science, EarlyView.
Condensates at synapses organize synaptic vesicles (SVs) and are crucial for efficient neurotransmitter release, yet how RNA contributes to this mesoscale architecture remains poorly understood. Here we uncover that RNA modulates synapsin–driven condensates.
Branislava Rankovic, Zachary M. Geisterfer, Akshita Chhabra, Vladimir M. Jovanovic, Ian Seim, Christian Hoffmann, Antonela Condric, Gerard Aguilar Pérez, Rinse de Boer, Lars T. Hofstede, Jingao Sun, Kiara Freitag, Katja Nowick, Marina Jendrach, Frank L. Heppner, Vladimir Despic, Michaela Müller‐McNicoll, Stephan Sigrist, Geert van den Bogaart, Sofiia Reshetniak, Amy S. Gladfelter, Dragomir Milovanovic   +21 more
wiley   +1 more source

A Multidimensional Engineering Strategy Reprograms Microglia via Targeted and Sustained‐Release Extracellular Vesicles for Spinal Cord Injury Repair

Advanced Science, EarlyView.
A multifunctional EV‐based nanoplatform (Ang‐TEVs@Gel) was engineered via preconditioning, surface targeting, and ROS‐responsive hydrogel encapsulation to reprogram microglia. This system restored autophagy via miR‐664a‐3p/PIK3CA axis, cleared myelin debris, resolved neuroinflammation, and promoted axon remyelination, ultimately achieving robust motor ...
Wu Xiong, Minhao Liu, Mingming Zheng, Jizhou Jia, Ziyan Zhu, Guang Kong, Jie Liu, Juan Wang, Wenbo Li, Qingyuan Wang, Qian Zhu, Peiran Chan, Tao Qin, Jiayang Wu, Yongjie Zhang, Chunming Tang, Cong Li, Jin Fan   +17 more
wiley   +1 more source

Decreased bone formation and increased osteoclastogenesis cause bone loss in mucolipidosis II

EMBO Molecular Medicine, 2013
Mucolipidosis type II (MLII) is a severe multi‐systemic genetic disorder caused by missorting of lysosomal proteins and the subsequent lysosomal storage of undegraded macromolecules.
Katrin Kollmann, Jan Malte Pestka, Sonja Christin Kühn, Elisabeth Schöne, Michaela Schweizer, Kathrin Karkmann, Takanobu Otomo, Philip Catala‐Lehnen, Antonio Virgilio Failla, Robert Percy Marshall, Matthias Krause, Rene Santer, Michael Amling, Thomas Braulke, Thorsten Schinke   +14 more
doaj   +1 more source