Results 51 to 60 of about 286,880 (314)

Metagenome-assembled genome sequences of three uncultured planktomarina sp. strains from the Northeast Atlantic Ocean [PDF]

, 2020
We report three metagenome-assembled genomes (MAGs) of Planktomarina strains from coastal seawater (Portugal) to help illuminate the functions of understudied Rhodobacteraceae bacteria in marine environments.
Borges, Nuno, da Rocha, Ulisses Nunes, Da Silva Costa, Rodrigo, Keller-Costa, Tina, Lago-Lestón, Asunción, Marques, Matilde, Silva, Sandra Godinho   +6 more
core   +1 more source

Il DBS come test diagnostico nella malattia di Fabry

Giornale di Clinica Nefrologia e Dialisi, 2017
non ...
Simone Scalia
doaj   +1 more source

An open-label clinical trial of agalsidase alfa enzyme replacement therapy in children with Fabry disease who are naïve to enzyme replacement therapy. [PDF]

, 2016
BackgroundFollowing a drug manufacturing process change, safety/efficacy of agalsidase alfa were evaluated in enzyme replacement therapy (ERT)-naïve children with Fabry disease.MethodsIn an open-label, multicenter, Phase II study (HGT-REP-084; Shire), 14
Chang, Peter, Goker-Alpan, Ozlem, Longo, Nicola, McDonald, Marie, Pano, Arian, Schiffmann, Raphael, Shankar, Suma P, Shen, Yinghua   +7 more
core   +2 more sources

TNF receptor–related factor 3 inactivation promotes the development of intrahepatic cholangiocarcinoma through NF‐κB‐inducing kinase–mediated hepatocyte transdifferentiation

Hepatology, EarlyView., 2022
Abstract Background and Aims Intrahepatic cholangiocarcinoma (ICC) is a deadly but poorly understood disease, and its treatment options are very limited. The aim of this study was to identify the molecular drivers of ICC and search for therapeutic targets.
Yuto Shiode, Takahiro Kodama, Satoshi Shigeno, Kazuhiro Murai, Satoshi Tanaka, Justin Y. Newberg, Jumpei Kondo, Shogo Kobayashi, Ryoko Yamada, Hayato Hikita, Ryotaro Sakamori, Hiroshi Suemizu, Tomohide Tatsumi, Hidetoshi Eguchi, Nancy A. Jenkins, Neal G. Copeland, Tetsuo Takehara   +16 more
wiley   +1 more source

Case report: De novo mutation of a-galactosidase A in a female patient with end-stage renal disease: report of a case of late diagnosis of Anderson–Fabry disease

Frontiers in Genetics, 2023
Background: Anderson–Fabry disease (AFD) is an X-linked disease that results from reduced activity of the enzyme galactosidase alpha (GLA). When the GLA gene sequence is altered by mutations that alter the normal DNA sequence, variants of the alpha ...
Irene Simonetta, Renata Riolo, Federica Todaro, Vincenzo Donadio, Alex Incensi, Salvatore Miceli, Paolo Colomba, Giovanni Duro, Antonino Tuttolomondo   +8 more
doaj   +1 more source

Structural genomics analysis of uncharacterized protein families overrepresented in human gut bacteria identifies a novel glycoside hydrolase. [PDF]

, 2014
BackgroundBacteroides spp. form a significant part of our gut microbiome and are well known for optimized metabolism of diverse polysaccharides. Initial analysis of the archetypal Bacteroides thetaiotaomicron genome identified 172 glycosyl hydrolases and
Axelrod, Herbert L, Chang, Yuanyuan, Eberhardt, Ruth Y, Godzik, Adam, Li, Zhanwen, Rigden, Daniel J, Sheydina, Anna, Zmasek, Christian C   +7 more
core   +2 more sources

Leaf apoplastic proteome composition in UV-B treated Arabidopsis thaliana mutants impaired in extracellular glutathione degradation [PDF]

, 2016
In plants, environmental perturbations often result in oxidative reactions in the apoplastic space, which are counteracted for by enzymatic and non-enzymatic antioxidative systems, including ascorbate and glutathione. The occurrence of the latter and its
Arrigoni, Giorgio, Masi, Antonio, Trentin, ANNA RITA   +2 more
core   +1 more source

Might Be Fabry Disease?

Turkish Journal of Internal Medicine, 2020
Fabry disease, also known as Anderson-Fabry disease, is a X-linked lysosomal storage disease. Alpha-galactosidase A (alpha-Gal A) enzyme deficiency leads globotriaosylceramide (Gb3) accumulation in several cells which causes clinical manifestations of ...
Aysegul Oruc
doaj  

Long-Term Effect of Antibodies against Infused Alpha-Galactosidase A in Fabry Disease on Plasma and Urinary (lyso)Gb3 Reduction and Treatment Outcome

PLoS ONE, 2012
Introduction Enzyme replacement therapy (ERT) with alpha-Galactosidase A (aGal A) may cause antibody (AB) formation against aGal A in males with Fabry disease (FD). Anti agalsidase ABs negatively influence globotriaosylceramide (Gb3) reduction.
S. Rombach, J. Aerts, B. Poorthuis, J. Groener, W. Donker‐Koopman, E. Hendriks, M. Mirzaian, S. Kuiper, F. Wijburg, C. Hollak, G. Linthorst   +10 more
semanticscholar   +1 more source

La malattia di Anderson-Fabry. Introduzione

Giornale di Clinica Nefrologia e Dialisi, 2017
non ...
Giovanni Duro, Marco Lombardi
doaj   +1 more source