Results 91 to 100 of about 156,351 (339)

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

Enzyme replacement therapies: What is the best option? [PDF]

, 2018
Despite many beneficial outcomes of the conventional enzyme replacement therapy (ERT), several limitations such as the high-cost of the treatment and various inadvertent side effects including the occurrence of an immunological response against the ...
Barar, Jaleh, Khiavi, Mostafa Akbarzadeh, Mousavi, Rahimeh, Rafi, Mohammad, Safary, Azam   +4 more
core   +2 more sources

Lysosomal storage disorders – challenges, concepts and avenues for therapy: beyond rare diseases

Journal of Cell Science, 2019
The pivotal role of lysosomes in cellular processes is increasingly appreciated. An understanding of the balanced interplay between the activity of acidic hydrolases, lysosomal membrane proteins and cytosolic proteins is required.
A. R. Marques, P. Saftig
semanticscholar   +1 more source

Oral Dosed Organo‐Silica Nanoparticles Restore Glucose Homeostasis and β‐Cell Function in Diabetes Rats

Advanced Functional Materials, EarlyView.
An oral nanoplatform, MOP@T@D, which can maintain glucose homeostasis and restore islet β cells in diabetic rats is developed. It achieves efficient intestinal absorption and liver‐targeted delivery. The nanoparticle disintegrates only in response to hyperglycemia to release insulin on demand and provides antioxidant protection through selenoprotein ...
Chenxiao Chu, Mingli Wei, Che Bian, Xiaoshuang Bi, Yaxin Deng, Peifu Xiao, Jiansong Zhao, Yuying Wang, Haibing He, Jingxin Gou, Tian Yin, Xing Tang, Li Yang, Hongbo Zhang, Yu Zhang   +14 more
wiley   +1 more source

Targeted delivery of lysosomal enzymes to the endocytic compartment in human cells using engineered extracellular vesicles. [PDF]

, 2019
Targeted delivery of lysosomal enzymes to the endocytic compartment of human cells represents a transformative technology for treating a large family of lysosomal storage diseases (LSDs).
Brown, Annie, Do, Mai Anh, Levy, Daniel, Lu, Biao, Marriott, Gerard   +4 more
core   +1 more source

Elevated cerebral spinal fluid biomarkers in children with mucopolysaccharidosis I-H. [PDF]

, 2016
Mucopolysaccharidosis (MPS) type-IH is a lysosomal storage disease that results from mutations in the IDUA gene causing the accumulation of glycosaminoglycans (GAGs).
Dickson, Patricia I, Lund, Troy C, Miller, Weston P, Orchard, Paul J, Pasquali, Marzia, Polgreen, Lynda E, Raymond, Gerald V   +6 more
core   +1 more source

Nanodiamond‐Based Quantum Sensing Reveals Changes in Endo‐Lysosomal Activity of Stimulated Cardiac Fibroblasts in a Cellular Fibrosis Model

Advanced Functional Materials, EarlyView.
Quantum sensing reveals intricate patterns linking endo‐lysosomal maturation to cardiac fibrosis progression, highlighting complexity in cellular remodeling. This study investigates fibroblast‐to‐myofibroblast transition under cell aging, stiffness, and TGF‐β stimulation, comparing nanodiamond uptake, endo‐lysosomal dynamics, and free radical ...
Aldona Mzyk, Ezgi Yilmaz, Giovanni D Angelo, Kirstine Berg‐Sørensen   +3 more
wiley   +1 more source

New Insights into Atonic Postpartum Hemorrhage: Animal Model Construction Based on Placental Nanodelivery Systems

Advanced Healthcare Materials, EarlyView.
This study develops a placenta‐targeted nanodelivery system co‐loading HMGB1 protein and the NLRP3 agonist nigericin to establish an animal model of atonic postpartum hemorrhage. The model accurately recapitulates clinical phenotypes, including prolonged labor and uterine contractility dysfunction, while revealing inflammatory activation in placental ...
Jiangxue Qu, Ruiqi Wu, Hai Jiang, Lian Chen, Yingying Tian, Shuai Zeng, Tongmin Liu, Cheng Zhao, Huifeng Shi, Xiaolong Liang, Yangyu Zhao   +10 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

Newborn Screening for Lysosomal Storage Diseases: Methodologies, Screen Positive Rates, Normalization of Datasets, Second-Tier Tests, and Post-Analysis Tools

International Journal of Neonatal Screening, 2018
All of the worldwide newborn screening (NBS) for lysosomal storage diseases (LSDs) is done by measurement of lysosomal enzymatic activities in dried blood spots (DBS). Substrates used for these assays are discussed.
M. Gelb
semanticscholar   +1 more source