Results 101 to 110 of about 45,966 (272)

The Role of Cardiac MRI in the Diagnosis of Fabry Disease

대한영상의학회지, 2020
Fabry disease is a rare X-linked metabolic disorder that is characterized by the accumulation of glycosphingolipids in various organs, resulting from the deficiency of alpha-galactosidase A.
Yoo Jin Hong, Young Jin Kim
doaj   +1 more source

Characteristic features of an alpha-galactosidase from mung beans [PDF]

European Journal of Biochemistry, 1984
Two molecular forms, I and II (high and low molecular mass) of alpha-galactosidase were demonstrated in dry mung beans and a multi-step procedure was developed for isolating the tetrameric enzyme I in good yield. Two affinity chromatographic techniques were employed and an overall 10 000-fold purification was achieved.
openaire   +2 more sources

Molecular and clinical studies in five index cases with novel mutations in the GLA gene [PDF]

, 2015
Fabry disease is a metabolic and lysosomal storage disorder caused by the functional defect of the α-galactosidase A enzyme; this defect is due to mutations in the GLA gene, that is composed of seven exons and is located on the long arm of the X ...
ALESSANDRO, Riccardo, Cammarata, G, Colomba, P, Duro, G., Fatuzzo, P, Iemolo, F, Monte, I, Pisani, A, Riccio, E, Rodolico, MS, Uva, M, Zizzo, C   +11 more
core   +1 more source

Photothermal–Immunomodulatory Hydrogel Reinforced by Ti3C2/ZnAl‐LDH Nanoplatform for Eradicating MRSA and Promoting Diabetic Wound Healing

Advanced Science, EarlyView.
A NETs‐inspired Ti3C2/LDH hydrogel integrates trapping, ROS boosting, and M2‐immunomodulation for MRSA‐infected wound repair. ABSTRACT MRSA infections give rise to chronic cutaneous and advance into profound tissue invasions, including osteomyelitis and sepsis—conditions for which existing clinical interventions offer only limited efficacy. The utility
Qiang Shi, Renliang Zhao, Jia Wang, Zhenchen Xiong, Xiangtian Deng, Cheng Zheng, Wenzhi Zhang   +6 more
wiley   +1 more source

Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy [PDF]

, 2002
Background-Although studies have suggested that "late-onset" hypertrophic cardiomyopathy (HCM) may be caused by sarcomeric protein gene mutations, the cause of HCM in the majority of patients is unknown.
Elliott, PM, Lee, P, McKenna, WJ, Sachdev, B, Takenaka, T, Tei, C, Teraguchi, H   +6 more
core   +1 more source

Biomimetic Nanomedicine for Senescence‐Modulated Immune Activation Enhances Immunotherapy Efficacy in Hepatocellular Carcinoma

Advanced Science, EarlyView.
A multifunctional mPDZM nanoplatform is developed in this study. mPDZM integrates chemotherapy‐induced senescence, selective senolysis, and STING‐mediated immune activation. mPDZM effectively clears senescent tumor cells, remodels the tumor immune microenvironment, and enhances antitumor T‐cell responses.
Shiji Fang, Liyun Zheng, Bin Lin, Jiale Chen, Dehai Hou, Yiming Ding, Mengzhu Han, Pan Qin, Mengyuan Wang, Xiaoju Guo, Yeyu Zhang, Gaofeng Shu, Fazong Wu, Jianfei Tu, Minjiang Chen, Zhongwei Zhao, Zhuang Liu, Jiansong Ji   +17 more
wiley   +1 more source

Fabry disease. A potential pitfall A family with a novel intronic mutation

Molecular Genetics and Metabolism Reports, 2018
Fabry disease is a genetic disorder characterized by the accumulation of globotriaosylceramide in cell lysosomes resulting from an X-linked deficiency of α-galactosidase A activity.
Gustavo Cabrera, Fernando Perretta
doaj   +1 more source

Female Fabry disease patients and X-chromosome inactivation [PDF]

, 2018
Fabry disease is an X-linked inherited lysosomal storage disorder caused by mutations in the gene encoding α- galactosidase A (GLA). Once it was thought to affect only hemizygous males.
Gabig-Cimińska, Magdalena, Jakóbkiewicz-Banecka, Joanna, Juchniewicz, Patrycja, Kloska, Anna, Moskot, Marta, Piotrowska, Ewa, Tylki-Szymańska, Anna, Węgrzyn, Grzegorz   +7 more
core   +1 more source

Senescent Synovial Intimal Fibroblasts Aggravate Osteoarthritis by Regulating Macrophage Polarization and Chondrocyte Phenotype Through ANGPTL4‐α5β1 Axis

Advanced Science, EarlyView.
Senescent synovial intimal fibroblasts (SIF) are identified as key drivers of osteoarthritis. They promote M1 macrophage polarization and cartilage degeneration via the ANGPTL4–α5β1 axis, regulated by transcription factors EGR1 and ATF3. Pharmacological inhibition of this pathway alleviates disease, revealing SIF senescence as a promising therapeutic ...
Muhai Deng, Yunsheng Jiang, Zhiyu Chen, Kaiquan Chen, Na Cao, Yang Huang, Zhengxue Quan, Cheng Chen   +7 more
wiley   +1 more source

Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document. [PDF]

, 2015
To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked Files.
Arngrímsson, Reynir, Barbey, Frederic, Biegstraaten, Marieke, Boks, Lut, Cecchi, Franco, Deegan, Patrick B, Feldt-Rasmussen, Ulla, Geberhiwot, Tarekegn, Germain, Dominique P, Hendriksz, Chris, Hollak, Carla E M, Hughes, Derralynn A, Kantola, Ilkka, Karabul, Nesrin, Lavery, Christine, Linthorst, Gabor E, Mehta, Atul, Oliveira, João P, Parini, Rossella, Ramaswami, Uma, Rudnicki, Michael, Serra, Andreas, Sommer, Claudia, Sunder-Plassmann, Gere, Svarstad, Einar, Sweeb, Annelies, Terryn, Wim, Tylki-Szymanska, Anna, Tøndel, Camilla, van de Mheen, Erica, Vujkovac, Bojan, Weidemann, Frank, Wijburg, Frits A, Woolfson, Peter   +33 more
core   +1 more source