Results 51 to 60 of about 526,926 (248)

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

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

Senolytic Therapy as a Preventive Strategy for Spine Degeneration and Pain

Advanced Science, EarlyView.
Cellular senescence promotes inflammation, tissue degeneration, and chronic back pain. In sparc‐null mice, early oral administration of the senolytic agents o‐vanillin and RG‐7112 reduced senescent cell burden and pro‐inflammatory SASP signaling across intervertebral discs, endplates, vertebral bone, and spinal cord.
Saber Ghazizadeh, Hosni Cherif, Matthew Mannarino, Juiena Sagir, Magali Millecamps, Jean A. Ouellet, Laura S. Stone, Lisbet Haglund   +7 more
wiley   +1 more source

Alpha-galactosidase production and use in a hollow-fiber reactor [PDF]

Applied and Environmental Microbiology, 1976
Soybean milk serves as a base for a variety of beverages designed for consumption in developing countries. Soybean flour contains raffinose and stachyose considered to be responsible for flatulence often associated with these products (J.J. Rackis, D.H. Honig, D.J. Sessa, and F.R. Steggerda, 1970).
K L, Smiley, D E, Hensley, H J, Gasdorf
openaire   +2 more sources

Massive accumulation of globotriaosylceramide in various tissues from a Fabry patient with a high antibody titer against alpha-galactosidase A after 6 years of enzyme replacement therapy

Molecular Genetics and Metabolism Reports, 2020
Fabry disease is an X-linked metabolic disorder due to a pathogenic mutation of the GLA gene. The accumulation of globotriaosylceramide (Gb3) damages multiple organs, including the heart, kidney and nervous system, especially in classical type Fabry ...
Kenichi Hongo, Toru Harada, Eiko Fukuro, Masahisa Kobayashi, Toya Ohashi, Yoshikatsu Eto   +5 more
doaj   +1 more source

Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat: a modified Delphi study

Frontiers in Medicine, 2023
ObjectiveFabry disease is a progressive disorder caused by deficiency of the α-galactosidase A enzyme (α-Gal A), leading to multisystemic organ damage with heterogenous clinical presentation.
Daniel G. Bichet, Robert J. Hopkin, Patrício Aguiar, Patrício Aguiar, Sridhar R. Allam, Sridhar R. Allam, Yin-Hsiu Chien, Yin-Hsiu Chien, Roberto Giugliani, Roberto Giugliani, Staci Kallish, Sabina Kineen, Olivier Lidove, Olivier Lidove, Dau-Ming Niu, Dau-Ming Niu, Iacopo Olivotto, Juan Politei, Paul Rakoski, Roser Torra, Camilla Tøndel, Camilla Tøndel, Derralynn A. Hughes   +22 more
doaj   +1 more source

Cigarette Smoke‐Induced Alveolar Macrophage Senescence via GEM/SIRT3‐Mediated Mitochondrial Dysfunction

Advanced Science, EarlyView.
Cigarette smoke accelerates the aging of immune cells in the lung. By combining human single‐cell sequencing, cell culture, and mouse models, the authors show that the protein GEM drives mitochondrial damage and senescence in alveolar macrophages by suppressing SIRT3.
Jin Wang, Meidan Wei, Xiangrong Song, Jiaxin Zhang, Lisha Zhang, Sixian Chen, Yaoyu Hu, Hui Gao, Jianxiang Li   +8 more
wiley   +1 more source

Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone [PDF]

Pharmacogenetics and Genomics, 2008
To examine the relationship between types and locations of mutations of the enzyme alpha-galactosidase (Gal) A in Fabry disease and the response to the pharmacological chaperone 1-deoxygalactonojirimycin (DGJ).T cells grown from normal individuals or from patients with Fabry disease were tested for response to treatment with DGJ by increased activity ...
Sang H, Shin, Stefanie, Kluepfel-Stahl, Adele M, Cooney, Christine R, Kaneski, Jane M, Quirk, Raphael, Schiffmann, Roscoe O, Brady, Gary J, Murray   +7 more
openaire   +2 more sources

Genetically Modified Cell Transplantation Through Macroencapsulated Spheroids with Scaffolds to Treat Fabry Disease

Cell Transplantation, 2021
Cell transplantation is expected to be another strategy to treat lysosomal diseases, having several advantages compared to enzyme replacement therapy, such as continuous enzyme secretion and one-time treatment to cure diseases.
Daisuke Kami, Yosuke Suzuki, Masashi Yamanami, Takahiro Tsukimura, Tadayasu Togawa, Hitoshi Sakuraba, Satoshi Gojo   +6 more
doaj   +1 more source

Safety and efficacy of recombinant human alpha-galactosidase a replacement therapy in Fabry's disease [PDF]

, 2001
Fabry's disease, lysosomal alpha-galactosidase A deficiency, results from the progressive accumulation of globotriaosylceramide and related glycosphingolipids. Affected patients have microvascular disease of the kidneys, heart, and brain.
Guffon, N., Waldeck, S., Desnick, R.J., Germain, D. P., Lee, P., Caplan, L., Germain, D.P., Eng, C.M., Wilcox, W. R., Wilcox, W.R., Waldek, S., Linthorst, G. E., Desnick, R. J., Linthorst, G.E., Eng, C. M.   +14 more
core   +1 more source