Results 61 to 70 of about 42,118 (292)

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

, 2019
IntroductionMucopolysaccharidosis (MPS) IVA or Morquio A syndrome is an autosomal recessive lysosomal storage disorder (LSD) caused by deficiency of the N-acetylgalactosamine-6-sulfatase (GALNS) enzyme, which impairs lysosomal degradation of keratan ...
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   +2 more sources

Elucidating the Role of Surface Ligands on the Oxidative Etching of Au Bipyramids During Photothermia Using Liquid Cell Transmission Electron Microscopy

Advanced Functional Materials, EarlyView.
Gold bipyramids can act as efficient plasmonic nanoheaters, but they often reshape during laser heating. This study shows that oxygen nanobubbles drive oxidative etching and that surface ligands control stability. CTAB‐ and citrate‐coated particles blunt and lose optical performance, whereas polystyrene sulfonate preserves shape and heating by ...
Irene López‐Sicilia, Valentina Girelli Consolaro, Sophie Marbach, Nancy Rahbany, Grégoire Petit, Ovidiu Ersen, Juan J. Giner‐Casares, Ali Abou‐Hassan   +7 more
wiley   +1 more source

Cardiac device implantation and device usage in Fabry and hypertrophic cardiomyopathy

Orphanet Journal of Rare Diseases, 2022
Background Fabry disease (FD) is a treatable X-linked condition leading to progressive cardiac disease, arrhythmia and premature death. We aimed to increase awareness of the arrhythmogenicity of Fabry cardiomyopathy, by comparing device usage in patients
Ravi Vijapurapu, William Bradlow, Francisco Leyva, James C. Moon, Abbasin Zegard, Nigel Lewis, D. Kotecha, Ana Jovanovic, Derralynn A. Hughes, Peter Woolfson, Richard P. Steeds, Tarekegn Geberhiwot   +11 more
doaj   +1 more source

Engineered ETS1‐Nanoconjugate Restores Immune Homeostasis through Dual Immune‐Vascular Modulation in Relapsing and Progressive Multiple Sclerosis

Advanced Healthcare Materials, EarlyView.
The biomimetic nanoplatform IMNP (ETS1 pDNA/PBAE@ITP‐MM) undergoes targeted disassembly at inflammatory vascular sites to release the ETS1 plasmid (pETS1). This release initiates a cascade of effects that inhibit pathogenic pathways and support immune homeostasis. (Abbreviations: EndMT, endothelial‐to‐mesenchymal transition; EC, endothelial cell; TC, T
Feng Zhang, Si‐Bo Yang, Yan Luo, Xiao‐Di Sun, Bo‐Hao Chang, Da‐Qiang Zhou, Jun‐Jie Jiang, Ya‐Nan Li, Jie‐Hong Wu, Hui‐Juan Jin, Hang Yang, Hang Hu, Yi‐Fan Zhou, Bo Hu   +13 more
wiley   +1 more source

Prevalence of Lysosomal Storage Disorders [PDF]

JAMA, 1999
Lysosomal storage disorders represent a group of at least 41 genetically distinct, biochemically related, inherited diseases. Individually, these disorders are considered rare, although high prevalence values have been reported in some populations. These disorders are devastating for individuals and their families and result in considerable use of ...
Meikle, P., Hopwood, J., Clague, A., Carey, W.   +3 more
openaire   +3 more sources

Ferritin‐Doped Nanoparticles Triggered Tumor‐Specific Darkening for Enhanced Photothermal Tumor Ablation and Immune Activation

Advanced Healthcare Materials, EarlyView.
Ferritin‐doped hybrid nanoparticles triggered accurate tumor‐specific hemorrhage for enhanced in situ photothermal therapy and evoked anti‐tumor immunity. Notably, HFn/GA‐Fe specifically induced tumor hemorrhage 12 h after intravenous injection, resulting in visible color darkening. Through photoacoustic imaging, tumor vessels could be clearly observed
Haidong Zha, Xiao Liang, Long Xi, Jiamao Chen, Wenzhao Zhong, Zhen Yuan, Meng Xu, Ying Zheng   +7 more
wiley   +1 more source

Inborn Errors of Metabolism in the Era of Untargeted Metabolomics and Lipidomics. [PDF]

, 2019
Inborn errors of metabolism (IEMs) are a group of inherited diseases with variable incidences. IEMs are caused by disrupting enzyme activities in specific metabolic pathways by genetic mutations, either directly or indirectly by cofactor deficiencies ...
Fiehn, Oliver, Ismail, Israa T, Showalter, Megan R   +2 more
core   +2 more sources

From RNA to DNA: How Cargo Identity Reprograms Lipid Nanoparticle Architecture and Function

Advanced Healthcare Materials, EarlyView.
The evolution of lipid nanoparticles (LNPs) spans from RNA‐LNPs, used in mRNA vaccines, to DNA‐LNPs, ideal for gene therapies. Emerging bionano architectures, decorated with DNA and plasma proteins, pave the way for advanced DNA‐based therapies that are more stable, targeted, and customizable.
Erica Quagliarini, Daniela Pozzi, Giulio Caracciolo   +2 more
wiley   +1 more source

Thematic review series: Lipid Posttranslational Modifications. Lysosomal metabolism of lipid-modified proteins

Journal of Lipid Research, 2006
Much is now understood concerning the synthesis of prenylated and palmitoylated proteins, but what is known of their metabolic fate? This review details metabolic pathways for the lysosomal degradation of S-fatty acylated and prenylated proteins. Central
Jui-Yun Lu, Sandra L. Hofmann
doaj   +1 more source

Nanotherapies for Atherosclerosis: Targeting, Catalysis, and Energy Transduction

Advanced Healthcare Materials, EarlyView.
Atherosclerosis management is hindered by poor drug targeting and plaque heterogeneity. Nanotechnology overcomes these barriers via three core strategies: (1) target‐engineered nanocarriers that achieve lesion‐specific precision via ligand modification, biomimetic camouflage, stimuli‐responsive release, and self‐propelling nanomotors; (2) catalytic ...
Yuqi Yang, Jingguo Qu, Tonghuan Xiao, Xinyang Han, Michael Tin‐Cheung Ying   +4 more
wiley   +1 more source