Results 61 to 70 of about 532,411 (388)

Perinatal Gene Transfer to the Liver [PDF]

, 2011
The liver acts as a host to many functions hence raising the possibility that any one may be compromised by a single gene defect. Inherited or de novo mutations in these genes may result in relatively mild diseases or be so devastating that death within
Buckley, SM, Chan, JK, Howe, SJ, McKay, TR, Rahim, AA, Waddington, SN, Ward, NJ   +6 more
core   +1 more source

Real‐time assay of ribonucleotide reductase activity with a fluorescent RNA aptamer

FEBS Letters, EarlyView.
Ribonucleotide reductases (RNR) synthesize DNA building blocks de novo, making them crucial in DNA replication and drug targeting. FLARE introduces the first single‐tube real‐time coupled RNR assay, which enables isothermal tracking of RNR activity at nanomolar enzyme levels and allows the reconstruction of allosteric regulatory patterns and rapid ...
Jacopo De Capitani, Noemi E. Nwosu, Viktoria Gocke, Müge Kasanmascheff, Hannes Mutschler   +4 more
wiley   +1 more source

EVALUATION OF ENZYME REPLACEMENT THERAPY EFFECTIVENESS IN CHILDREN WITH GAUCHER’S DISEASE ACCORDING TO THE INTERNATIONAL STUDIES

Педиатрическая фармакология, 2014
The article presents data on the history of creation of pathogenetic enzyme replacement therapy and its introduction into clinical practice of managing patients with Gaucher’s disease.
O. S. Gundobina, G. B. Movsisyan, L. S. Namazova-Baranova   +2 more
doaj   +1 more source

Pancreatic exocrine insufficiency after bariatric surgery [PDF]

, 2017
Morbid obesity is a lifelong disease, and all patients require complementary follow-up including nutritional surveillance by a multidisciplinary team after bariatric procedures.
Arnelo, Urban, Haas, Stephan L., Löhr, J. -Matthias, Martin, Lena, Rutkowski, Wiktor, Thorell, Anders, Valente, Roberto, Vujasinovic, Miroslav   +7 more
core   +1 more source

The role of histone modifications in transcription regulation upon DNA damage

FEBS Letters, EarlyView.
This review discusses the critical role of histone modifications in regulating gene expression during the DNA damage response (DDR). By modulating chromatin structure and recruiting repair factors, these post‐translational modifications fine‐tune transcriptional programmes to maintain genomic stability.
Angelina Job Kolady, Siyao Wang
wiley   +1 more source

Plasma lyso-Gb3: a biomarker for monitoring fabry patients during enzyme replacement therapy

Clinical and Experimental Nephrology, 2018
BackgroundRecently, globotriaosylsphingosine (lyso-Gb3) has attracted interest as a biomarker of Fabry disease. However, little is known regarding its utility for the evaluation of the therapeutic efficacy.MethodWe measured plasma lyso-Gb3 concentration ...
H. Sakuraba, T. Togawa, T. Tsukimura, H. Kato   +3 more
semanticscholar   +1 more source

Enzyme replacement therapy with taliglucerase alfa: 36-month safety and efficacy results in adult patients with Gaucher disease previously treated with imiglucerase. [PDF]

, 2016
Taliglucerase alfa is the first available plant cell-expressed human recombinant therapeutic protein. It is indicated for treatment of patients with type 1 Gaucher disease (GD) in adult and pediatric patients in several countries.
Amato, Dominick J, Brill-Almon, Einat, Chertkoff, Raul, Giraldo, Pilar, Pastores, Gregory M, Petakov, Milan, Rosenbaum, Hanna, Shankar, Suma P, Szer, Jeffrey, Zimran, Ari   +9 more
core   +2 more sources

Function‐driven design of a surrogate interleukin‐2 receptor ligand

FEBS Letters, EarlyView.
Interleukin (IL)‐2 signaling can be achieved and precisely fine‐tuned through the affinity, distance, and orientation of the heterodimeric receptors with their ligands. We designed a biased IL‐2 surrogate ligand that selectively promotes effector T and natural killer cell activation and differentiation. Interleukin (IL) receptors play a pivotal role in
Ziwei Tang, Zelin Cheng, Teng Li, Fulian Wang, Liangminghui Zhang, Xiuxiu He, Lili Liu, Wei Wang, Aibin Liang, Guang Yang   +9 more
wiley   +1 more source

Adequate hemodialysis does not compromise the cardioprotective effect of agalsidase alfa on patients with Fabry disease: a case report

Journal of Medical Case Reports
Background Fabry disease is an inherited lysosomal storage disease that can be reversed, or the progression slowed, by enzyme replacement therapy in the early stage.
Xiansen Wei, Shimin Jiang, Li Zhuo, Hong Jiang, Wenge Li   +4 more
doaj   +1 more source

EFFECTIVENESS AND SAFETY OF VELAGLUCERASE ALFA IN TREATMENT OF GAUCHER DISEASE TYPE 1 (ACCORDING TO INTERNATIONAL STUDIES)

Педиатрическая фармакология, 2014
The article is dedicated to modern approaches to treatment of Gaucher’s disease. The authors list the primary aspects of the disease and present data on the origin and introduction of pathogenetic enzyme replacement therapy to clinical practice.
O. S. Gundobina, G. B. Movsisyan, E. V. Komarova, L. S. Namazova-Baranova   +3 more
doaj   +1 more source