Results 41 to 50 of about 249,219 (350)

Polymeric nanoreactors for enzyme replacement therapy of MNGIE [PDF]

Journal of Controlled Release, 2010
The lack of a crucial metabolic enzyme can lead to accumulating substrate concentrations in the bloodstream and severe human enzyme deficiency diseases. Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) is such a fatal genetic disorder, caused by a thymidine phosphorylase deficiency.
De Vocht, Caroline, Ranquin, An, Van Ginderachter, Jo, Vanhaecke, Tamara, Rogiers, Vera, Van Gelder, Patrick, Versees, Wim, Steyaert, Jan   +7 more
openaire   +5 more sources

Functional assessment using short tests in a patient with Pompe disease receiving enzyme replacement therapy: case report

Case Reports, 2019
Introduction: Pompe disease is characterized by the deficiency of the acid alfa glucosidase enzyme, which leads to a glycogen accumu­lation mainly in cardiac and skeletal muscles.
Thomas Torres-Cuenca, Jorge Arturo Díaz-Ruíz, Fernando Ortiz-Corredor   +2 more
doaj   +1 more source

AAV-mediated transcription factor EB (TFEB) gene delivery ameliorates muscle pathology and function in the murine model of Pompe Disease [PDF]

, 2017
Pompe disease (PD) is a metabolic myopathy due to acid alpha-glucosidase deficiency and characterized by extensive glycogen storage and impaired autophagy.
Alvino, Filomena Grazia, Auricchio, Alberto, Ballabio, Andrea, Carrella, Alessandra, De Leonibus, Elvira, Diez-roux, Graciana, Gatto, Francesca, Iacobellis, Francesca, Nusco, Edoardo, Parenti, Giancarlo, Polishchuk, Elena, Polishchuk, Roman, Rossi, Barbara, Tarallo, Antonietta   +13 more
core   +1 more source

The epithelial barrier theory proposes a comprehensive explanation for the origins of allergic and other chronic noncommunicable diseases

FEBS Letters, EarlyView.
Exposure to common noxious agents (1), including allergens, pollutants, and micro‐nanoplastics, can cause epithelial barrier damage (2) in our body's protective linings. This may trigger an immune response to our microbiome (3). The epithelial barrier theory explains how this process can lead to chronic noncommunicable diseases (4) affecting organs ...
Can Zeyneloglu, Huseyn Babayev, Ismail Ogulur, Sena Ardicli, Yagiz Pat, Duygu Yazici, Bingjie Zhao, Lihong Chang, Xiaoqing Liu, Paolo D'Avino, Manru Li, Ceren Biçer, Fatma Hacer Kurtoğlu Babayev, Raja Dhir, Kari C. Nadeau, Marie‐Charlotte Brüggen, Mubeccel Akdis, Cezmi A. Akdis   +17 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

C‐mannosylation promotes ADAMTS1 activation and secretion in human testicular germ cell tumor NEC8 cells

FEBS Letters, EarlyView.
C‐mannosylation is a unique form of protein glycosylation. In this study, we demonstrated that ADAMTS1 is C‐mannosylated at Trp562 and Trp565 in human testicular germ cell tumor NEC8 cells. We found that C‐mannosylation of ADAMTS1 is essential for its secretion, processing, enzymatic activity, and ability to promote vasculogenic mimicry. These findings
Takato Kobayashi, Takehiro Suzuki, Ryota Kawahara, Natsumi Harai, Naoshi Dohmae, Siro Simizu   +5 more
wiley   +1 more source

Ascending aortic remodelling in Fabry disease after long-term enzyme replacement therapy. [PDF]

, 2017
Previous cross-sectional studies reported a high prevalence of ascending aorta dilations/aneurysms in male adults with Fabry disease, independently of cardiovascular risk factors.
Barbey, F., Dormond, O., Hajdu, S., Monney, P., Qanadli, S.D., Schwitter, J., Tran, C.   +6 more
core   +1 more source

Ergothioneine supplementation improves pup phenotype and survival in a murine model of spinal muscular atrophy

FEBS Letters, EarlyView.
Spinal muscular atrophy (SMA) is a genetic disease affecting motor neurons. Individuals with SMA experience mitochondrial dysfunction and oxidative stress. The aim of the study was to investigate the effect of an antioxidant and neuroprotective substance, ergothioneine (ERGO), on an SMNΔ7 mouse model of SMA.
Francesca Cadile, Daniela Ratto, Giorgia Rastelli, Ottavia Eleonora Ferraro, Caterina Temporini, Sunil Kumar, Simona Boncompagni, Paola Rossi, Monica Canepari   +8 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