Results 71 to 80 of about 3,638 (152)

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

An improved technique for separation of neutral glycosphingolipids by high-performance liquid chromatography

Journal of Lipid Research, 1980
We have developed a high-performance liquid chromatographic (HPLC) procedure for separation of O-acetyl-N-p-nitrobenzoyl derivatives of six neutral glycosphingolipids: glucosylceramide, lactosylceramide, globotriaosylceramide, lactotriaosylceramide ...
A Suzuki, S K Kundu, D M Marcus
doaj   +1 more source

Sensory-specific peripheral nerve pathology in a rat model of Fabry disease

Neurobiology of Pain, 2021
Fabry disease (FD) causes life-long pain, the mechanisms of which are unclear. Patients with FD have chronic pain that mirrors symptoms of other painful peripheral neuropathies. However, it is unclear what underlying damage occurs in FD peripheral nerves
Tyler B. Waltz, Anthony J. Burand, Jr., Katelyn E. Sadler, Cheryl L. Stucky   +3 more
doaj   +1 more source

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

Treatment of Fabry disease: outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2 mg/kg. [PDF]

PLoS ONE, 2007
Two different enzyme preparations, agalsidase alfa (Replagal(TM), Shire) and beta (Fabrazyme(TM), Genzyme), are registered for treatment of Fabry disease.
Anouk C Vedder, Gabor E Linthorst, Gunnar Houge, Johannna E M Groener, Els E Ormel, Berto J Bouma, Johannes M F G Aerts, Asle Hirth, Carla E M Hollak   +8 more
doaj   +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

The Parkinson's Disease Drug Tolcapone and Analogues are Potent Glycomimetic Lectin Inhibitors of Pseudomonas aeruginosa LecA

Angewandte Chemie International Edition, Volume 64, Issue 50, December 8, 2025.
We present Tolcapone and derivatives as a new class of potent glycomimetics for lectin inhibition. Over 3200 Roche in‐house compounds were screened experimentally and a subset was biophysically evaluated. Our findings show the potential to develop potent non‐carbohydrate glycomimetic lectin inhibitors, opening a path toward innovative anti‐infective ...
Steffen Leusmann, Eike Siebs, Sakonwan Kuhaudomlarp, Annabelle Varrot, Anne Imberty, Bernd Kuhn, Christian Lerner, Uwe Grether, Alexander Titz   +8 more
wiley   +1 more source

Connecting the Dots: Bridging Microsamples and Conventional Blood Matrices in Metabolic Biomarker Analysis

Analytical Science Advances, Volume 6, Issue 2, December 2025.
ABSTRACT Bridging the gap between microsampling techniques and standard blood matrices presents a groundbreaking opportunity in metabolic biomarker analysis, offering minimally invasive, patient‐centric alternatives to traditional venipuncture. This review presents the current knowledge obtained from the comparison of biomarkers analysis in liquid ...
Marlene Thaitumu, Vasiliki Gkanali, Georgios Theodoridis, Helen Gika   +3 more
wiley   +1 more source

Enhanced thrombospondin-1 causes dysfunction of vascular endothelial cells derived from Fabry disease-induced pluripotent stem cells

EBioMedicine, 2020
Background: Fabry disease (FD) is a recessive X-linked lysosomal storage disorder caused by α-galactosidase A (GLA) deficiency. Although the mechanism is unclear, GLA deficiency causes an accumulation of globotriaosylceramide (Gb3), leading to ...
Hyo-Sang Do, Sang-Wook Park, Ilkyun Im, Donghyuk Seo, Han-Wook Yoo, Heounjeong Go, Yoo Hyung Kim, Gou Young Koh, Beom-Hee Lee, Yong-Mahn Han   +9 more
doaj   +1 more source