Results 71 to 80 of about 3,683 (169)

Signal Peptide Engineering and Codon Optimization to Enhance α‐Gal A Activity for rAAV Gene Therapy of Fabry Disease

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Fabry disease is an X‐linked lysosomal storage disorder caused by mutations in the GLA gene, leading to deficient α‐galactosidase A (α‐Gal A) activity and pathological accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine (Lyso‐Gb3) in various organs.
Siwu He, Li Yang, Ke Wan, Zhaoyue Zheng, Mi Leng, Chunmei Gan, Yu Liu, Lin Xiao, Jingya Ye, Zhian Chen, Jiao Zhou, C. Alexander Valencia, Aliah Abuammah, Hoi Yee Chow, Biao Dong, Yucheng Chen   +15 more
wiley   +1 more source

Activator protein for the degradation of globotriaosylceramide by human alpha-galactosidase.

Journal of Biological Chemistry, 1983
An activator protein which stimulates the degradation of globotriaosylceramide by human hepatic alpha-galactosidase (alpha-D-galactoside galactohydrolase, EC 3.2.1.22) was isolated from human liver and purified some 1300-fold. The purified activator was heat stable up to 95 degrees C, its molecular weight was estimated at 20,000 by gel filtration ...
S, Gärtner, E, Conzelmann, K, Sandhoff
openaire   +2 more sources

The physiological and pathological effects of sphingolipid metabolism and signaling in the central nervous system

Brain Pathology, Volume 36, Issue 1, January 2026.
Sphingolipids are vital components of cell membranes. Metabolic disruptions of sphingolipids, including ceramide and sphingosine‐1‐phosphate, are linked to neurological disorders. This article summarizes the classification, structure, and metabolic processes of sphingolipids, and the physiological and pathological effects of sphingolipid metabolism and
Tian Li, Haoying He, Ejuan Zhang, Fengjiao Hu, Zhuo Wang, Jian Xu, Mengliu Zeng, Biwen Peng   +7 more
wiley   +1 more source

Long‐term effectiveness and safety outcomes in adults with Fabry disease treated with agalsidase alfa: 20 years of data from the Fabry Outcome Survey

European Journal of Clinical Investigation, Volume 56, Issue 1, January 2026.
Long‐term treatment with agalsidase alfa in 1864 adults with Fabry disease in the Fabry Outcome Survey confirmed previously reported beneficial effects on renal function and cardiomyopathy. Over a median (min, max) of 6.0 (0, 21.6) years of treatment, annualized changes in eGFR remained relatively stable in females and declined slightly in males.
Derralynn A. Hughes, Guillem Pintos‐Morell, Christoph Kampmann, Christina Anagnostopoulou, Jaco Botha, Siddharth Jain, Kathleen Nicholls, Dau‐Ming Niu, Ricardo Reisin, Michael L. West, Jörn Schenk, Uma Ramaswami, Roberto Giugliani   +12 more
wiley   +1 more source

Das Parkinson‐Medikament Tolcapon und dessen Derivative sind Potente Glykomimetische Inhibitoren des Pseudomonas aeruginosa Lektins LecA

Angewandte Chemie, Volume 137, Issue 50, December 8, 2025.
Wir stellen Tolcapon und dessen Derivate als eine neue Klasse potenter Glykomimetika zur Lektininhibition vor. Über 3.200 Verbindungen der Roche‐Substanzbibliothek wurden experimentell gescreent und eine Auswahl biophysikalisch untersucht. Unsere Ergebnisse zeigen das Potenzial zur Entwicklung potenter nicht‐kohlenhydratbasierter glykomimetischer ...
Steffen Leusmann, Eike Siebs, Sakonwan Kuhaudomlarp, Annabelle Varrot, Anne Imberty, Bernd Kuhn, Christian Lerner, Uwe Grether, Alexander Titz   +8 more
wiley   +1 more source

Susceptibility of Human B-Lymphoblastoid Cells to Shiga Toxin Intoxication Homologues

Microorganisms
Shiga toxins (Stx), produced by Stx-producing Escherichia coli (STEC), are known to target Gb3-expressing cells, contributing to organ pathology such as in the kidney and brain.
Alfredo G. Torres, Alexander J. Badten, Susana Oaxaca-Torres, Itziar Chapartegui-González, Ennzo Ortega, Rama R. Atitkar, G. Jilani Chaudry, Carlton C. Brinkley, Angela Melton-Celsa   +8 more
doaj   +1 more source

Acroparesthesia in a Female: Diagnostic Dilemma

Case Reports in Medicine, 2014
Fabry disease is an X-linked lysosomal storage disorder caused by deficient activity of a-galactosidase A (also known as ceramide trihexosidase) and resultant accumulation of globotriaosylceramide (Gb3) and related glycophospholipids.
Fnu Kelash, Lara Kujtan, Padmaja V. Mallidi   +2 more
doaj   +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

Regulation of Globotriaosylceramide (Gb3)‐Mediated Signal Transduction by Rhamnose‐Binding Lectin

ChemInform, 2007
AbstractChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 200 leading journals. To access a ChemInform Abstract, please click on HTML or PDF.
Kazuo, Nitta, Tasuku, Kawano, Shigeki, Sugawara, Masahiro, Hosono   +3 more
openaire   +3 more sources

Globotriaosylceramide Immunostaining of Myocardium in a Patient With Fabry Disease

Circulation Journal, 2022
Yoshida, Satoru, Kawano, Hiroaki, Ikeda, Satoshi, Sakuraba, Hitoshi, Okano, Shinji, Maemura, Koji   +5 more
openaire   +2 more sources