Results 91 to 100 of about 460,260 (336)

Brain-targeted enzyme-loaded nanoparticles: A breach through the blood-brain barrier for enzyme replacement therapy in Krabbe disease

Science Advances, 2019
GALC-loaded nanoparticles can reinstate enzymatic activity in the brain of the mouse model of Krabbe disease. Lysosomal storage disorders (LSDs) result from an enzyme deficiency within lysosomes. The systemic administration of the missing enzyme, however,
Ambra Del Grosso, Marianna Galliani, Lucia Angella, Melissa Santi, I. Tonazzini, G. Parlanti, G. Signore, M. Cecchini   +7 more
semanticscholar   +1 more source

In vitro and in silico modelling of ROS1‐positive non‐small cell lung cancer reveals fusion‐dependent tyrosine kinase inhibitor responses

Molecular Oncology, EarlyView.
Drug resistance limits treatment success in a subset of lung cancers driven by ROS1 gene alterations. Using patient‐derived cells and computer simulations, we studied three key mutations and how they affect five targeted drugs. The mutations reduced drug effectiveness in different ways by altering protein structure and behavior.
Farhan Ul Haq, Marc Terrones, Felicia Rodrigues Fortes, Anne Schepers, Alessia Denis, Christophe Deben, Ken Op de Beeck, Guy Van Camp, Geert Vandeweyer   +8 more
wiley   +1 more source

Single‐cell DNA methylation profiling: Technologies, computation, and applications in precision oncology

Molecular Oncology, EarlyView.
Single‐cell DNA methylation (scDNAme) profiling maps epimutational clonal evolution, revealing mechanisms of malignancy and therapeutic resistance across diverse cancer types. By providing a high‐resolution landscape of intratumoral heterogeneity, these technologies empower precise patient stratification, guide the development of enhanced ...
Ik Soo Kim
wiley   +1 more source

Lack of regulation of 11 beta-hydroxysteroid dehydrogenase type 1 during short-term manipulation of GH in patients with hypopituitarism [PDF]

, 2009
Objective: Evidence from long-term clinical studies measuring urinary steroid ratios. and from in vitro studies, suggests that GH administered for longer than 2 months down-regulates 11 beta-hydroxysteroid dehydrogenase type 1 (11 beta-HSD1), thereby ...
Johannsson, Gudmundur,, Stimson, Roland H, Johannsson, Gudmundur, Andrew, Ruth, Walker, Brian R, Sigurjónsdóttir, Helga A,, Sigurjonsdottir, Helga A   +6 more
core   +1 more source

Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study

Journal of Medical Genetics, 2016
Background Fabry disease is an X-linked lysosomal storage disorder caused by GLA mutations, resulting in α-galactosidase (α-Gal) deficiency and accumulation of lysosomal substrates.
D. Hughes, K. Nicholls, S. Shankar, G. Sunder-Plassmann, D. Koeller, K. Nedd, G. Vockley, T. Hamazaki, R. Lachmann, T. Ohashi, I. Olivotto, N. Sakai, P. Deegan, D. Dimmock, F. Eyskens, D. Germain, O. Goker-Alpan, E. Hachulla, A. Jovanović, C. Lourenço, I. Narita, Mark Thomas, W. Wilcox, D. Bichet, R. Schiffmann, E. Ludington, C. Viereck, J. Kirk, Julie Yu, F. Johnson, P. Boudes, E. Benjamin, D. Lockhart, C. Barlow, N. Skuban, J. Castelli, J. Barth, U. Feldt-Rasmussen   +37 more
semanticscholar   +1 more source

Targeting transcription factors associated with hemoglobinopathies: Lessons from successful interventions and implications for cancer

Molecular Oncology, EarlyView.
This review summarizes the transcription factors, repressive chromatin‐modifying complexes, and epigenetic mechanisms that control fetal hemoglobin repression. Notably, many regulators of γ‐globin silencing also function in transcriptional and epigenetic networks that drive cancer, highlighting opportunities to translate advances in hemoglobinopathy ...
Meigen Yu, Puspa Das, Xing Zhang, Xiaodong Cheng   +3 more
wiley   +1 more source

Update on role of agalsidase alfa in management of Fabry disease

Drug Design, Development and Therapy, 2011
Uma RamaswamiPaediatric Metabolic Unit, Cambridge University Hospitals, Cambridge, UKAbstract: Fabry disease (FD) is an X-linked lysosomal storage disorder that affects both men and women.
Uma Ramaswami
doaj  

Spatial biology in cancer epigenetics

Molecular Oncology, EarlyView.
Spatial epigenomics combines molecular profiling with tissue architecture to reveal how gene regulation is organized within intact tissues. In cancer, these technologies uncover the mechanisms driving tumor heterogeneity and microenvironmental interactions, opening new opportunities for biomarker discovery and precision medicine.
Eva Crespo‐García, Manel Esteller
wiley   +1 more source

Response of Gaucher bone disease to enzyme replacement therapy [PDF]

, 2002
In Gaucher disease, enzyme replacement therapy usually reduces liver and spleen volumes and improves haematological abnormalities within 1 year. In contrast, skeletal manifestations of Gaucher disease are thought to respond more slowly.
Weinreb, N. J., Roca-Espiau, M., Terk, M. R., Bembi, B., Ciana, G., Poll, L. W., Maas, M.   +6 more
core   +1 more source

Enzyme replacement therapy in Fabry disease, towards individualized treatment [PDF]

, 2017
Fabry disease is a very heterogeneous disorder for which expensive enzyme replacement therapy is available since more than 15 years. Because of the variety of symptoms and disease course, individual choices need to be made to improve the appropriate use ...
Arends, M.
core   +3 more sources