Results 51 to 60 of about 40,385 (227)

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

Epidemiology of lysosomal storage diseases in Sweden

, 2014
There are more than 50 inherited lysosomal storage diseases (LSDs), and this study examined the incidence of clinically diagnosed LSDs in ...
Malin Hult, von Döbeln, Ulrika, Ulrika von Döbeln, Darin, Niklas,, Niklas Darin, Jan‐Eric Månsson, Hult, Malin,, Månsson, Jan-Eric,   +7 more
core   +1 more source

Gardiquimod Nanoemulsion Targets Cutaneous Leishmaniasis Lesions Reducing Systemic Toxicity and Parasite Burden

Advanced Healthcare Materials, EarlyView.
Nanoemulsion delivery of a TLR7 agonist enhances safety and promotes colocalization with Leishmania‐infected macrophages in skin lesions, enabling a ∼2‐log reduction in parasite burden. However, tissue‐level constraints and TLR‐driven regulatory feedback generate a mixed immune response that limits complete parasite clearance.
Carmen Palomino‐Cano, M. Carmen Mera‐Delgado, Esther Moreno, Esther Larrea, Lecnia Aguirre, Jonathan Miguel Zanatta, Sónia Barros‐Carvalho, Iola F. Duarte, Ricardo Silvestre, Juan M. Irache, Javier Carrión, Socorro Espuelas   +11 more
wiley   +1 more source

Bacteria‐Responsive Nanostructured Drug Delivery Systems for Targeted Antimicrobial Therapy

Advanced Materials, EarlyView.
Bacteria‐responsive nanocarriers are designed to release antimicrobials only in the presence of infection‐specific cues. This selective activation ensures drug release precisely at the site of infection, avoiding premature or indiscriminate release, and enhancing efficacy.
Guillermo Landa, Gracia Mendoza, Silvia Irusta, Manuel Arruebo   +3 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

Super‐Resolution Ultrasound Based Cell Tracking With Polymeric Nanobubbles

Advanced Materials, EarlyView.
This study presents a super‐resolution ultrasound platform for tracking cells in vivo. Biocompatible polymeric nanobubbles are used as highly echogenic intracellular labels. Following the injection of cells and microbubbles, ultrasound localization microscopy (ULM) can dynamically match the microvascular architecture and individual cell trajectories ...
Junlin Chen, Xiaoyu Wang, Jilin Fan, Bi Wang, Hanghang Fang, Yurui Wang, Hao Cui, Mohammad Roufarshbaf, Ekaterina Savina, Alexandra Valeske, Quim Peña, Yang Shi, Andreas Herrmann, Twan Lammers, Mathias Hornef, Roman Barmin, Thomas Lisson, Georg Schmitz, Anne Rix, Fabian Kiessling   +19 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

Haematopoietic development and immunological function in the absence of cathepsin D [PDF]

, 2007
Background: Cathepsin D is a well-characterized aspartic protease expressed ubiquitously in lysosomes. Cathepsin D deficiency is associated with a spectrum of pathologies leading ultimately to death.
Calogero Tulone, Chain Benjamin M, Grosvenor Nicholas, Saftig, P, Marco Novelli, Uchiyama Yasuo, Novelli Marco, Saftig Paul, Chain, BM, Benjamin M Chain, Paul Saftig, Tulone, C, Nicholas Grosvenor, Yasuo Uchiyama, Uchiyama, Y, Tulone Calogero, Novelli, M, Grosvenor, N   +17 more
core   +1 more source

G3BP1 Succinylation at K413 is Critical for Cardiac Function by Modulating PI3K‐AKT‐mTOR Signal Axis

Advanced Science, EarlyView.
Schematic illustrating the impact of G3BP1 succinylation at K413 on cardiac function. In the healthy human heart, G3BP1 succinylation maintains homeostatic mTOR signaling. In patients with dilated cardiomyopathy (DCM) and heart failure (HF), G3BP1 de‐succinylation induces RagA expression and disrupts the binding of the TSC1/2 complex, leading to the ...
Yuan Zhang, Cancan Yao, Yan Chen, Ke Cai, Zhouping Lu, Boxuan Wu, Kun Yu, Yan Shi, Jianyuan Zhao, Xiangyu Zhou   +9 more
wiley   +1 more source