Results 61 to 70 of about 8,071 (187)

Cell Membrane‐Coated Lipid Nanoparticles for Drug Delivery

Aggregate, Volume 6, Issue 7, July 2025.
This review highlights recent progress in cell membrane‐coated lipid nanoparticles (CMC‐LNPs), focusing on their design, preparation methods, functional integration, and biomedical applications. It discusses various types of LNPs and coating strategies, characterization techniques, therapeutic functions, and applications.
Moataz B. Zewail, Guangze Yang, Yilong Fan, Yue Hui, Chun‐Xia Zhao, Yun Liu   +5 more
wiley   +1 more source

Update on the fluorometric measurement of enzymatic activities for Lysosomal Storage Disorder detection: The example of MPS VI [PDF]

, 2017
Lysosomal Storage Disorders (LSD) are rare diseases that as a whole havea combined incidence ranging from 1:1500 to 1:7000 live births. One of suchdiseases is Mucopolysaccharidosis VI (MPS VI), or Maroteaux Lamy Syndrome.MPS VI patients undergo ...
Adamo, Ana María, Franco, Paula Gabriela, Mathieu, Patricia Andrea, Perez, Maria Julia, Setton, Clara Patricia, Silvestroff, Lucas   +5 more
core  

Development of a fluorometric microtiter plate based enzyme assay for MPS IVA (Morquio type A) using dried blood spots. [PDF]

Mol Genet Metab Rep, 2014
Mucopolysaccharidosis type IVA or Morquio type-A disease is a hereditary lysosomal storage disorder caused by deficient activity of the lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS). The disease is caused by lysosomal accumulation of unprocessed glycosaminoglycans (GAGs) that manifests with severe to mild skeletal and ...
Ullal AJ, Millington DS, Bali DS.
europepmc   +4 more sources

Clinical, biochemical and genetic profiles of patients with mucopolysaccharidosis type IVA (Morquio A syndrome) in Malaysia: the first national natural history cohort study

Orphanet Journal of Rare Diseases, 2019
Background Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive lysosomal storage disease due to N-acetylgalactosamine-6-sulfatase (GALNS) deficiency.
Huey Yin Leong, Nor Azimah Abdul Azize, Hui Bein Chew, Wee Teik Keng, Meow Keong Thong, Mohd Khairul Nizam Mohd Khalid, Liang Choo Hung, Norzila Mohamed Zainudin, Azura Ramlee, Muzhirah Aisha Md Haniffa, Yusnita Yakob, Lock Hock Ngu   +11 more
doaj   +1 more source

Assessment and management of over-activity and sleep disorder in mucopolysaccharidoses [PDF]

, 2018
There is a growing awareness, based on both research and clinical studies, that abnormal sleep and circadian functioning are associated with the various forms of mucopolysaccharidoses (MPS), with sleep respiratory problems seemingly common in many forms ...
Hare, Dougal, Mahon, Louise, Rust, Stewart   +2 more
core   +2 more sources

Hearing Loss in Mucopolysaccharidoses: Current Knowledge and Future Directions

Diagnostics, 2020
Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by a deficiency of one of the enzymes involved in the degradation of glycosaminoglycans. Hearing loss is a common clinical presentation in MPS.
Jeremy Wolfberg, Keerthana Chintalapati, Shunji Tomatsu, Kyoko Nagao   +3 more
doaj   +1 more source

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  

Update on safety and feasibility of the combination of pembrolizumab and pelvic chemoradiation in locally advanced cervical cancer

Cancer, Volume 131, Issue 4, 15 February 2025.
Abstract Background The addition of immune checkpoint inhibitors to standard‐of‐care chemoradiation (CRT) is established as the new standard of care in high‐risk, locally advanced cervical cancer. However, the optimal sequencing of therapies is unknown.
Linda R. Duska, Gina R. Petroni, Premal H. Thaker, Erin K. Crane, Laura L. Holman, Debrorah K. Armstrong, Kara Romano, Jennifer Scalici   +7 more
wiley   +1 more source

Evaluation of the CRISPR/Cas9 system as genome editing platform for the Mucopolysaccharidosis IV A using a strategy for induction of higher homologous recombination frequency

Universitas Scientiarum
Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disease caused by mutations in the gene encoding for the hydrolase N-acetylgalactose-6-sulfate sulfatase (GALNS). GALNS deficiency leads to a progressive buildup of partially degraded chondroitin-
Diego Alejandro Suarez, Andrés Felipe Leal, Carlos Javier Alméciga Díaz   +2 more
doaj   +1 more source

Delivery and assessment of a CRISPR/nCas9-based genome editing system on in vitro models of mucopolysaccharidoses IVA assisted by magnetite-based nanoparticles

Scientific Reports, 2022
Mucopolysaccharidosis IV A (MPS IVA) is a lysosomal disorder caused by mutations in the GALNS gene. Consequently, the glycosaminoglycans (GAGs) keratan sulfate and chondroitin 6-sulfate accumulate in the lysosomal lumen.
Andrés Felipe Leal, Javier Cifuentes, Carlos Emilio Torres, Diego Suárez, Valentina Quezada, Saúl Camilo Gómez, Juan C. Cruz, Luis H. Reyes, Angela Johana Espejo-Mojica, Carlos Javier Alméciga-Díaz   +9 more
doaj   +1 more source