Results 81 to 90 of about 114,325,321 (319)

Alpha-galactosidase A gene rearrangements causing Fabry disease. Identification of short direct repeats at breakpoints in an Alu-rich gene.

Journal of Biological Chemistry, 1990
Fabry disease, an inborn error of glycosphingolipid catabolism, results from mutations in the X-linked gene encoding the lysosomal enzyme, alpha-galactosidase A (EC 3.2.1.22).
Ruth Kornreich, David F. Bishop, R. J. Desnick   +2 more
semanticscholar   +1 more source

Frequency of Fabry disease in a juvenile idiopathic arthritis cohort

Pediatric Rheumatology Online Journal, 2021
Background Fabry disease (FD) is a rare, X-linked, multisystemic lysosomal storage disorder (LSD) that results from a deficiency in the hydrolase alpha-galactosidase A (⍺-GalA). During childhood, classic FD symptomatology is rare.
Luciana Paim-Marques, Amanda Virginia Cavalcante, Islane Verçosa, Paula Carneiro, Marcia Souto-Maior, Erlane Marques, Simone Appenzeller   +6 more
doaj   +1 more source

Glycosidases of ehrlich ascites tumor cells and ascitic fluid--Purification and substrate specificity of [alpha]-N-Acetylgalactosaminidase and [alpha]-galactosidase: Comparison with coffee bean [alpha]-galactosidase

, 1990
Ehrlich ascites tumor cells and ascitic fluid were assayed for glycosidase activity. [alpha]-Galactosidase and [beta]-galactosidase, [alpha]- and [beta]-mannosidase, [alpha]-N-acetylgalactosaminidase, and [beta]-N-acetylglucosaminidase activities were ...
Goldstein, Irwin J., Eckhardt, Allen E., Yagi, Fumio   +2 more
core   +1 more source

The CXCL5/CXCR2 Axis Attenuates Ferroptosis in Intrahepatic Cholangiocarcinoma Through the Positive Feedback Loop Between PTGS2 Transcriptional Activation and Neutrophil Recruitment

Advanced Science, EarlyView.
The CXCL5/CXCR2 axis directly inhibits ferroptosis in ICC cells by activating the NF‐κB/PTGS2 pathway. Meanwhile, the CXCL5/CXCR2 axis recruits N2 TANs, and the activated PTGS2 promotes the secretion of TNF‐α from the recruited N2 TANs via the CCL2/CCL7/CCR2 pathway, thereby activating the NF‐κB/PTGS2 axis and forming a positive feedback loop, which ...
Chanqi Ye, Kefeng Lin, Shuyao Yang, Yan Zhang, Wenli Gao, Jiaqi Chen, Ying Dong, Rui Bai, Yang Tian, Minghao Wang, Zhijun Yuan, Yuxiao Ma, Yuqin He, Ruyin Chen, Wenguang Fu, Qi Jiang, Qiong Li, Jian Ruan   +17 more
wiley   +1 more source

Fabry Disease - literature review

Journal of Education, Health and Sport
Introduction and objective: Fabry disease (FD) is a rare lysosomal storage disorder that can manifest in classical and atypical forms, with the latter being more common. It results from deficient alpha-galactosidase activity, leading to the accumulation
Krystian Wdowiak, Agnieszka Maciocha, Julia Wąż, Aleksandra Witas, Adrian Muzyka, Julia Rydzek, Ewa Gardocka   +6 more
doaj   +1 more source

Synthesis and processing of alpha-galactosidase A in human fibroblasts. Evidence for different mutations in Fabry disease.

Journal of Biological Chemistry, 1987
The synthesis and processing of the human lysosomal enzyme alpha-galactosidase A was examined in normal and Fabry fibroblasts. In normal cells, alpha-galactosidase A was synthesized as an Mr = 50,500 precursor, which contained phosphate groups in ...
P. Lemansky, David F. Bishop, R. J. Desnick, Andrej Hasilik, K. von Figura   +4 more
semanticscholar   +1 more source

Production of secreted guar alpha-galactosidase by Lactococcus lactis

, 1995
A plant alpha-galactosidase gene was inserted in the expression vector pGKV259. The resulting plasmid pGAL2 consisted of the replication functions of the broad-host-range lactococcal plasmid pWVO1, the lactococcal promoter P59, and the DNA sequences ...
Bolhuis, A, Leenhouts, KJ, Kok, J, Ledeboer, A, Venema, G   +4 more
core   +1 more source

CDK4/MERCs/PINK1 Axis Drives PFOA/HFPO‐TA‐Induced Cardiac Senescence via Mitophagy Defect and cGAS‐STING Activation: In Vitro Amelioration by Cycloastragenol

Advanced Science, EarlyView.
The present study demonstrated that PFOA and HFPO‐TA exposure suppressed CDK4, disrupted MERCs and impaired PINK1/Parkin‐mediated mitophagy, thereby accelerating cardiac senescence, whereas CAG effectively reversed these pathological changes in vitro. Our findings identify CDK4 as a critical regulator bridging mitophagy defects and cardiac senescence ...
Nuo‐Wa Li, Jun‐Ze Jiang, Ying‐Ying Liu, Tian‐Tian Zhang, Kanwar Kumar Malhi, Xin Yao, Jin‐Long Li   +6 more
wiley   +1 more source

A Microenvironment‐Adaptive Scaffold Rejuvenates Peripheral Nerve Regeneration During Aging Via Dual Modulation of Ferroptotic Stimuli in Schwann Cells

Advanced Science, EarlyView.
(i) Aging impairs peripheral nerve regeneration via its dual ferroptosis‐mediated pathologies in senescent schwann cells. (ii) The composite nerve conduit is a symbiosis niche integrating microenvironment‐responsive nanoparticles (Ga‐PTAs) and maxillofacial‐derived mesenchymal stem cells (Mmscs).
Ning Zhan, Lixin Tian, Lianjie Peng, Jingyu Zhang, Lining Lin, Xiaoting Zhang, Yaxian Luo, Zhichao Liu, Xinhua Yao, Mouyuan Sun, Yong He, Mengfei Yu, Huiming Wang   +12 more
wiley   +1 more source

Ultrastructural deposits appearing as “zebra bodies” in renal biopsy: Fabry disease?– comparative case reports

BMC Nephrology, 2017
Background Fabry Disease (FD) is a genetic disorder caused by alpha-galactosidase A deficiency. Certain drugs, such as hydroxychloroquine, can produce renal deposits that mimic morphological findings seen in FD, characterizing a type of drug-induced ...
Precil Diego Miranda de Menezes Neves, Juliana Reis Machado, Fabiano Bichuette Custódio, Maria Luíza Gonçalves dos Reis Monteiro, Shigueo Iwamoto, Marlene Freire, Marisa França Ferreira, Marlene Antônia dos Reis   +7 more
doaj   +1 more source