Results 71 to 80 of about 56,286 (316)

Whole genome sequencing for mutation discovery in a single case of lysosomal storage disease (MPS type 1) in the dog. [PDF]

, 2020
Mucopolysaccharidosis (MPS) is a metabolic storage disorder caused by the deficiency of any lysosomal enzyme required for the breakdown of glycosaminoglycans.
Aguilar, Miriam, Ancona, Devin, Bannasch, Danika, Brown, C. Titus, Cowan, Tina, Knipe, Marguerite, Mansour, Tamer, Moore, Bret, Seada, Haitham, Sebbag, Lionel, Sebbag, Lionel, Thomasy, Sara, Vernau, Karen, Woolard, Kevin   +13 more
core   +3 more sources

Recent Advances in Collective Behaviors of Micro/Nanomotor Swarms

Advanced Materials, EarlyView.
This review describes the driving forces behind collective motion, explores the self‐organization of micro/nano swarms across zero‐dimensional (0D), one‐dimensional (1D), two‐dimensional (2D), and three‐dimensional (3D) spaces, and highlights their potential in drug delivery, environmental monitoring, and smart devices.
Siwen Sun, Bingbing Sun, Alexander B. Cook, Tania Patiño Padial, Jan C. M. van Hest   +4 more
wiley   +1 more source

Orphan drugs and the NHS: Should we value rarity [PDF]

, 2005
Cost effectiveness plays an important part in current decisions about the funding of health technologies. Drugs for rare disease (orphan drugs) are often expensive to produce and, by definition, will benefit only small numbers of patients.
Claxton, K., McCabe, C., Tsuchiya, A.
core   +2 more sources

Single‐Cell Hyperthermia: Diamond Quantum Thermometry Reveals Thermal Control of Macrophage Polarization

Advanced Materials, EarlyView.
Photothermal nanodiamonds with quantum sensing capabilities generate lysosome‐confined hyperthermia, enabling simultaneous temperature and radical detection via diamond sensing. This localized thermal and oxidative stress drives pro‐inflammatory (M1) macrophage polarization, revealing a new strategy for precision immunomodulation through subcellular ...
Kaiqi Wu, Qi Lu, Yong Ren, Priyadharshini Balasubramanian, Kazem Ebadi Jalal, Hannah Klug, Matthias Klein, Toszka Bohn, Tobias Bopp, Fedor Jelezko, Yingke Wu, Tanja Weil   +11 more
wiley   +1 more source

Safety analysis of self-administered enzyme replacement therapy using data from the Fabry Outcome and Gaucher Outcome Surveys

Orphanet Journal of Rare Diseases
Background Fabry disease and Gaucher disease are rare genetic disorders characterized by defective degradation of glycosphingolipids caused by enzymatic deficiencies in α–galactosidase A and β–glucocerebrosidase, respectively, and often require life-long
Shoshana Revel-Vilk, Uma Ramaswami, Guillem Pintos-Morell, Derralynn Hughes, Kathy Nicholls, Ricardo Reisin, Roberto Giugliani, Ozlem Goker-Alpan, Majdolen Istaiti, Aidan Gill, Maurizio Scarpa, Jaco Botha   +11 more
doaj   +1 more source

Phenotype Correction in Murine Mucopolysaccharidosis Type VII by Transplantation of Human Amniotic Epithelial Cells after Adenovirus-Mediated Gene Transfer

Cell Transplantation, 2000
Cell therapy with human amniotic epithelial (HAE) cells was developed as an alternative method for enzyme replacement therapy in congenital lysosomal storage disorders, but only limited therapeutic efficacy has been reported.
Motomichi Kosuga, Satori Takahashi, Kyoko Sasaki, Shin Enosawa, Xiao-Kang Li, Sanae Okuyama, Masayuki Fujino, Seiichi Suzuki, Masao Yamada, Nobutake Matsuo, Norio Sakuragawa, Torayuki Okuyama   +11 more
doaj   +1 more source

Differentiation of norm and pathology during selective biochemical skreening of lysosomal storage diseases with increased excretion of oligosaccharides [PDF]

The Ukrainian Biochemical Journal, 2015
Oligosaccharides are a class of polymeric carbohydrates, which are constituents of a glycoside portion of glycoprotein and glycolipid molecules. The lysosomal hydrolase dysfunction due to lysosomal storage disorders results in partial or complete failure
N. Y. Mytsyk, N. V. Olkhovych, N. G. Gorovenko   +2 more
doaj   +1 more source

Multimodal Actuation and Environment Adaptive Strategies of Bio‐Inspired Micro/Nanorobots in Precision Medicine

Advanced Robotics Research, EarlyView.
An introduction for multidrive and environment‐adaptive micro/nanorobotics: design and fabrication strategies, intelligent actuation, and their applications. Various intelligent actuation approaches—magnetic, acoustic, optical, chemical, and biological—can be synergistically designed to enhance flexibility and adaptive behavior for precision medicine ...
Aiqing Ma, Han Gong, Jiacheng Ouyang, Liqi Chen, Tianfang Kang, Yiran He, Guojun Huang, Sidi Zheng, Ting Yin, Hong Pan, Lintao Cai   +10 more
wiley   +1 more source

The rapidly evolving view of lysosomal storage diseases

EMBO Molecular Medicine, 2021
Lysosomal storage diseases are a group of metabolic disorders caused by deficiencies of several components of lysosomal function. Most commonly affected are lysosomal hydrolases, which are involved in the breakdown and recycling of a variety of complex ...
Giancarlo Parenti, Diego L Medina, Andrea Ballabio   +2 more
doaj   +1 more source

One special question to start with: can HIF/NFkB be a target in inflammation? [PDF]

, 2015
Hypoxia and Inflammation are strictly interconnected with important consequences at clinical and therapeutic level. While cell and tissue damage due to acute hypoxia mostly leads to cell necrosis, in chronic hypoxia, cells that are located closer to ...
CARNEVALE, ILARIA, DE SANTIS, Elena, Limana, F, Perrone, Ga, POLLETTA, LUCIA, RUNCI, ALESSANDRA, RUSSO, Matteo Antonio, SANSONE, LUIGI, TAFANI, MARCO   +8 more
core   +1 more source