Results 61 to 70 of about 39,202 (243)

Identifying the genetic causes of phenotypically diagnosed Pakistani mucopolysaccharidoses patients by whole genome sequencing

Frontiers in Genetics, 2023
Background: Lysosomal storage disorders (LSDs) are a group of inherited metabolic diseases, which encompass more than 50 different subtypes of pathologies.
Rutaba Gul, Rutaba Gul, Sabika Firasat, Mikkel Schubert, Asmat Ullah, Elionora Peña, Anne C. B. Thuesen, Mulazim Hussain, Frederik F. Staeger, Anette P. Gjesing, Anders Albrechtsen, Torben Hansen   +11 more
doaj   +1 more source

Microfluidic Nano‐Assembly of Red‐Blood‐Cell (RBC) Lipids and Components for Engineering Extracellular Vesicles

Advanced Healthcare Materials, EarlyView.
Engineered red blood cell‐derived extracellular vesicles (eRBCEVs) are synthesized via controlled microfluidic assembly from native RBC lipids, enabling tunable encapsulation of proteins, nucleic acids, nanoparticles, and viral vectors. The platform demonstrates reproducible nanoscale architecture, preserved membrane composition, and functional cargo ...
Chiranth K. Nagaraj, Xilal Y. Rima, Kim T. Nguyen, Courtney Culkins, Nana Boateng, Jacob Doon‐Ralls, Alejandro Bresolin, Xin Huang, Hong Li, Vahedi Amid, Ajeet Pal Singh, Dharti Shantaram, Anastasiia Amari, Mangesh D. Hade, Nicholas R. Merriam, Zachary D. Schultz, Scott Q. Harper, Nizar Y. Saad, Setty M. Magaña, Willa A. Hsueh, Rachel E. Kopec, Blaise R. Kimmel, Andre F. Palmer, Eduardo Reátegui   +23 more
wiley   +1 more source

Review: Therapeutic approaches for lysosomal storage diseases

Therapeutic Advances in Endocrinology and Metabolism, 2010
The lysosomal storage disorders (LSDs) comprise a heterogeneous group of inborn errors of metabolism characterized by tissue substrate deposits, most often caused by a deficiency of the enzyme normally responsible for catabolism of various byproducts of ...
Gregory M. Pastores
doaj   +1 more source

Highlights on Genomics Applications for Lysosomal Storage Diseases

Cells, 2020
Lysosomal storage diseases (LSDs) are a heterogeneous group of rare multisystem genetic disorders occurring mostly in infancy and childhood, characterized by a gradual accumulation of non-degraded substrates inside the lysosome.
Valentina La Cognata, Maria Guarnaccia, Agata Polizzi, Martino Ruggieri, Sebastiano Cavallaro   +4 more
doaj   +1 more source

Targeting CD300a Signaling With a Phosphatidylserine‐Presenting Hydrogel Rescues Macrophage Dysfunction and Accelerates Diabetic Wound Healing

Advanced Healthcare Materials, EarlyView.
Schematic illustration of the proposed mechanism: PEG/RGD‐PSLs mimic apoptotic cells to engage PS receptors (notably CD300a), transducing an inhibitory signal that suppresses the MyD88/NF‐κB pathway, leading to global anti‐inflammatory and pro‐reparative effects.
Lele Wu, Xuetong Hao, Yang Zou, Xinglin Chen, Junyan Kong, Chunning Gu, Wenjie Ma, Zhongjun Yang, Huifen Liu, Mengmeng Liu, Xin Tong   +10 more
wiley   +1 more source

Golgi defect as a major contributor to lysosomal dysfunction

Frontiers in Cell and Developmental Biology
The Golgi apparatus plays a crucial role in lysosome biogenesis and the delivery of lysosomal enzymes, essential for maintaining cellular homeostasis and ensuring cell survival. Deficiencies in Golgi structure and function can profoundly impact lysosomal
Sarah R. Akaaboune, Yanzhuang Wang
doaj   +1 more source

Chemical Strategies for Multistimuli Responsive Dynamic Covalent Materials in Regenerative Medicine

Advanced Healthcare Materials, EarlyView.
Multistimuli responsive dynamic covalent materials integrate reversible chemistry with the complex chemical, mechanical, and biochemical cues of regenerative environments. This review highlights chemical strategies based on orthogonal dynamic bonds, multicomponent networks, and hierarchical architectures to regulate mechanics, degradation, and ...
Saurabh Joshi, Matthew B. Baker, Dominik Schauenburg   +2 more
wiley   +1 more source

GDNF‐Enriched Small Extracellular Vesicle‐Loaded ROS‐Scavenging Hydrogel Promotes Neural Regeneration After Spinal Cord Injury

Advanced Healthcare Materials, EarlyView.
A glial cell line‐derived neurotrophic factor (GDNF)‐enriched small extracellular vesicle‐loaded reactive oxygen species (ROS)‐scavenging hydrogel integrates sustained neurotrophic delivery with local modulation of oxidative and inflammatory stress after spinal cord injury. The composite hydrogel improves local vesicle retention, protects neural tissue,
Xingyu Zhu, Zhong Liu, Kewei Li, Yuhong Fan, Kangjia Yang, Xiaopeng Sun, Hang Shi, Lixuan Sun, Yang Lou, Min Wang, Peipei Wu, Hui Qian, Qiang Fu, Hua Ding   +13 more
wiley   +1 more source

Cardiac Affection in Lysosomal Storage Disorders: Review Article [PDF]

Zagazig University Medical Journal
A class of illnesses known as lysosomal storage disorders is brought on by deficiencies in membrane transporters, lysosomal enzymes, or other proteins important in lysosomal biology.
Wessam Mokhtar, Nariman Omar, Asmaa Mohammed Niazy, AL Shaymaa Ahmed Ali   +3 more
doaj   +1 more source

Lignin Mimicking Protein Methylation Augments the Efficacy of FOLFOX Chemotherapy by Anchoring Thymidylate Synthase

Advanced Materials, EarlyView.
Lignin‐mimicking protein methylation can enhance the efficacy and mitigate the toxicity of the classic FOLFOX chemotherapy regimen. ABSTRACT FOLFOX has served as the standard chemotherapy regimen for advanced stages, specifically in the treatment of pancreatic, colorectal, and bladder cancers.
Shiyao Song, Yan‐Lai Tang, Xiaoting Liu, Jiayi Zheng, Chong Wu, Tang Li, Junhong Ye, Dianmin Xia, Yong Mei, Jingxuan Ma, Libin Huang, Xuequn Luo, Liheng Chen, Yanlin Qin, Weiling He   +14 more
wiley   +1 more source