Results 31 to 40 of about 46,559 (266)

Dysregulated DNA methylation in the pathogenesis of Fabry disease

Molecular Genetics and Metabolism Reports, 2022
Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency of α-galactosidase A and subsequent accumulation of glycosphingolipids with terminal α-D-galactosyl residues.
Jin-Song Shen, Uthra Balaji, Kunitoshi Shigeyasu, Yoshinaga Okugawa, Siamak Jabbarzadeh-Tabrizi, Taniqua S. Day, Erland Arning, John Marshall, Seng H. Cheng, Jinghua Gu, Raphael Schiffmann, Teodoro Bottiglieri, Ajay Goel   +12 more
doaj   +1 more source

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

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

Bloating and gas formation: modern opportunities for treatment

Лечащий Врач, 2021
Bloating is a subjective feeling of excessive gas formation and passage of gasses. It is more common in patients with gastrointestinal disorders. For therapy of disorders involving excessive gas formation, fermentative nutraceutical containing alpha ...
L. I. Butorova, N. G. Kadnikova, M. A. Osadchuk, T. E. Plavnik, G. M. Tokmulina   +4 more
doaj  

Late diagnosis of Fabry disease caused by a de novo mutation in a patient with end stage renal disease. [PDF]

, 2015
BACKGROUND: We present the case of a white 35-year-old male with a diagnosis of Fabry disease and negative family history. CASE PRESENTATION: At the age of 31, he underwent a renal biopsy with a diagnosis of hypertension-induced nephroangiosclerosis.
Daniele, Aurora, Di Domenico, Carmela, Nigro, Ersilia, Pisani, Antonio, Riccio, Eleonora, Salvatore, Francesco   +5 more
core   +3 more sources

Multi-response modeling of reaction-diffusion to explain alpha-galactoside behavior during the soaking-cooking process in cowpea [PDF]

, 2018
A modelling approach was developed to better understand the behavior of the flatulence-causing oligosaccharides in cowpea seeds during isothermal water soaking-cooking process.
Alter, Pascaline, Bohuon, Philippe, Briffaz, Aurélien, Coffigniez, Fanny, Durand, Noel, Mestres, Christian   +5 more
core   +1 more source

Biochemical properties of digestive carbohydrases from the sugar beet weevil, Lixus incanescens (Coleoptera: Curculionidae) [PDF]

Arthropods, 2013
The sugar beet weevil, Lixus incanescens B., is one of the most important pests of sugar beet plant in Iran. The petioles and leaves of sugar beet are attacked by larvae and adults of the sugar beet weevil.
Seyed Mohammad Ahsaei, Vahid Hosseininaveh, Mahdieh Bigham   +2 more
doaj  

Anderson-Fabry disease: a multiorgan disease. [PDF]

, 2013
Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by a deficiency of the enzyme α-galactosidase A . FD causes glycolipids, such as globotriaosylceramide (Gb3), to accumulate in the vascular endothelium of several organs (fig.2 ...
Antonino Tuttolomondo, Antonio Pinto, Giuseppe Licata, Irene Simonetta, Rosaria Pecoraro, Salvatore Miceli   +5 more
core   +1 more source

Isolation and Identification of an α-Galactosidase-Producing Lactosphaera pasteurii Strain and Its Enzymatic Expression Analysis

Molecules, 2022
α-Galactosidase (EC 3.2.1.22) refers to a group of enzymes that hydrolyze oligosaccharides containing α-galactoside-banded glycosides, such as stachyose, raffinose, and verbascose.
Yan Zhao, Jinghui Zhou, Shan Dai, Xiaozhu Liu, Xuewen Zhang   +4 more
doaj   +1 more source

A Novel Mutation in The GLA Gene Leading to Fabry Disease - A Case Report from Islamabad, Pakistan

Life and Science
Fabry disease (OMIM #301500) is a rare X-linked lysosomal storage disease. Generally, lysosomal storage disease is identified by inappropriate lipid storage in lysosomes due to specific enzyme deficiencies.
Ayesha Ali Malick, Muhammad Jawad Hassan, Arsalan Ahmad   +2 more
doaj   +1 more source