Results 141 to 150 of about 84,505 (291)

Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance. [PDF]

, 2019
IntroductionMucopolysaccharidosis (MPS) VI or Maroteaux-Lamy syndrome (253200) is an autosomal recessive lysosomal storage disorder caused by deficiency in N-acetylgalactosamine-4-sulfatase (arylsulfatase B).
Akyol, Mehmet Umut, Alden, Tord D, Amartino, Hernan, Ashworth, Jane, Belani, Kumar, Berger, Kenneth I, Borgo, Andrea, Braunlin, Elizabeth, Eto, Yoshikatsu, Giugliani, Roberto, Gold, Jeffrey I, Harmatz, Paul, Hendriksz, Christian, Jester, Andrea, Jones, Simon A, Karsli, Cengiz, Mackenzie, William, Marinho, Diane Ruschel, McFadyen, Andrew, McGill, Jim, Mitchell, John J, MPS Consensus Programme Co-Chairs, MPS Consensus Programme Steering Committee, Muenzer, Joseph, Okuyama, Torayuki, Orchard, Paul J, Scarpa, Maurizio, Stevens, Bob, Thomas, Sophie, Walker, Robert, Wynn, Robert   +30 more
core  

Light‐Switched Mesenchymal Stem Cells for In Situ Exosome Amplification in Craniofacial Bone Defect Reconstruction

Advanced Science, EarlyView.
Light‐switchable MSCs (MSC‐UCNPs) were constructed by intracellular incorporation of UCNPs. Upon 980 nm irradiation, UCNPs emitted localized ultraviolet light (365 nm), activating the ROS/HEXB/LAMP1 signaling pathway to suppress lysosome–multivesicular body fusion and thereby enhance exosome biogenesis. Embedded within an injectable hydrogel, MSC‐UCNPs
Tingting Wu, Yajing Liu, Shuman Wang, Xiaoming Bai, Luyun Zhang, Yuwei Liu, Zhiwen Fu, Chen Shi   +7 more
wiley   +1 more source

Single‐Injection Multi‐Omics Analysis by Direct Infusion Mass Spectrometry

Angewandte Chemie, EarlyView.
A high‐throughput direct infusion mass spectrometry platform, enabled by gas‐phase ion mobility separation, supports single‐injection analysis of peptides, polar metabolites, and lipids. Coupled with custom software, it identified ∽1,300 proteins and ∽600 metabolites in ∽4.3 minutes per sample, and demonstrated broad utility in macrophage polarization ...
Yuming Jiang, Ivan Salladay‐Perez, Amanda Momenzadeh, Jesús Muñoz‐Estrada, Uktarsh Tripathi, Anthony J. Covarrubias, Jesse G. Meyer   +6 more
wiley   +2 more sources

Prevalence and management of Gaucher disease

Pediatric Health, Medicine and Therapeutics, 2011
T Andrew Burrow, Sonya Barnes, Gregory A GrabowskiThe Division of Human Genetics, Cincinnati Children's Hospital Medical Center, and the Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USAAbstract: Gaucher ...
Burrow TA, Barnes S, Grabowski GA
doaj  

In utero adenine base editing corrects multi-organ pathology in a lethal lysosomal storage disease. [PDF]

Nat Commun, 2021
Bose SK, White BM, Kashyap MV, Dave A, De Bie FR, Li H, Singh K, Menon P, Wang T, Teerdhala S, Swaminathan V, Hartman HA, Jayachandran S, Chandrasekaran P, Musunuru K, Jain R, Frank DB, Zoltick P, Peranteau WH.   +18 more
europepmc   +1 more source

Decoding Undesirable Inflammatory Responses of Nucleic Acid‐Delivering Lipid Nanoparticles

Advanced Science, EarlyView.
Lipid nanoparticles (LNPs) enable efficient nucleic acid delivery, but their immunogenicity is a double‐edged sword. This review explores LNP‐driven innate and adaptive immunity, covering lipid components, endosomal escape, and nucleic acid sensing.
Ruimin Hu, Yin Dou, Chenwen Li, Yuying Mu, Huiying Ouyang, Wenhao Shen, Jianxiang Zhang   +6 more
wiley   +1 more source

No Difference in Health Related Quality of Life Between Therapeutic Options for Type 1 Gaucher Disease [PDF]

, 2016
Type 1 Gaucher disease (GD) is the most common lysosomal storage disorder. Previously, treatment for GD was limited to intravenous enzyme replacement therapy (ERT).
Wagner, Victoria
core   +1 more source

Profiling Co‐Occurrent Morphological Phenotypes and Their Degree of Expression Severity in Vacuolated Cells by Holo‐Tomographic Flow Cytometry and Fractal Analysis

Advanced Intelligent Systems, EarlyView.
HTFC gets 3D refractive index tomograms of flowing cells. Label‐free monocytes are engineered to express patterns of cytoplasmic vacuoles. From the tomogram, an efficient dimensionality reduction is operated. Interpretable features are extracted to classify the expression severity of phenotypes coexisting in each cell, visually represented by a seven ...
Marika Valentino, Giusy Giugliano, Daniele Pirone, Fabrizio Licitra, Fulvia Vitale, Pasquale Memmolo, Lisa Miccio, Massimo D’Agostino, Pietro Ferraro, Vittorio Bianco   +9 more
wiley   +1 more source

Bottom‐Up Coacervate‐Based Artificial Cells: Integrating Cellular Hallmarks into Complex Life‐Like Systems

Angewandte Chemie, EarlyView.
Current interest in artificial cell research underscores its potential to deepen our understanding of life's fundamental processes. This review highlights advances in bottom‐up coacervate‐based artificial cell engineering via combined integration of cellular hallmarks.
Arjan Hazegh Nikroo, Angshuman Das, Madelief A. M. Verwiel, Jan C. M. van Hest   +3 more
wiley   +2 more sources

Macrophage polarization impacts tunneling nanotube formation and intercellular organelle trafficking. [PDF]

, 2019
Tunneling nanotubes (TNTs) are cellular extensions enabling cytosol-to-cytosol intercellular interaction between numerous cell types including macrophages.
Cherqui, Stephanie, Goodman, Spencer, Khan, Meisha, Naphade, Swati, Sharma, Jay   +4 more
core   +1 more source