Results 91 to 100 of about 31,524 (206)

Supply and Demand in the Mathematics of Rare Disease Drug Development: Why Choosing the Right Model Is Crucial

Clinical and Translational Science, Volume 19, Issue 5, May 2026.
ABSTRACT Clinical trials for rare diseases face a fundamental mathematical challenge that conventional randomized controlled trial (RCT) designs cannot overcome. With approximately 95% of the estimated 10,000–16,000 rare diseases lacking approved therapies, and drug development programs failing at rates exceeding 75% in non‐oncology indications, the ...
Marshall L. Summar, Janet Woodcock
wiley   +1 more source

Fatty acid-dependent globotriaosyl ceramide receptor function in detergent resistant model membranes

Journal of Lipid Research, 2009
Glycosphingolipid (GSL) fatty acid strictly regulates verotoxin 1 (VT1) and the HIV adhesin, gp120 binding to globotriaosyl ceramide within Gb3/cholesterol detergent resistant membrane (DRM) vesicle constructs and in Gb3 water-air interface monolayers in
Radhia Mahfoud, Adam Manis, Clifford A. Lingwood   +2 more
doaj   +1 more source

Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysis

Genetics in Medicine, 2018
Plasma globotriaosylsphingosine (lyso-Gb3) is a promising secondary screening biomarker for Fabry disease. Here, we examined its applicability as a primary screening biomarker for classic and late-onset Fabry disease in males and females.
H. Maruyama, Kaori Miyata, Mariko Mikame, Atsumi Taguchi, Chu Guili, Masaru Shimura, K. Murayama, Takeshi Inoue, S. Yamamoto, K. Sugimura, Koichi Tamita, T. Kawasaki, J. Kajihara, Akifumi Onishi, H. Sugiyama, Teiko Sakai, I. Murata, Takamasa Oda, Shigeru Toyoda, K. Hanawa, Takeo Fujimura, S. Ura, M. Matsumura, H. Takano, Satoshi Yamashita, Gaku Matsukura, R. Tazawa, T. Shiga, M. Ebato, H. Satoh, S. Ishii   +30 more
semanticscholar   +1 more source

Deciphering the Chemotherapeutic Mechanism of Ferulic Acid: Insight Into the Role Against Multiple Human Cancers

Cancer Innovation, Volume 5, Issue 2, April 2026.
Ferulic acid (FA), a naturally occurring compound, exhibits anticancer activity against 16 cancer types through multiple molecular pathways. Its enhanced delivery via nanoformulations and synergistic effects with other therapies suggest FA as a promising, food‐based adjunct for cancer symptom control until fully approved pharmaceutical options are ...
Sanzida Khatun, Md Sohel, Zitu Barman, Umme Salma, Lubatul Arbia, Md. Rifat Sarker, Jasmin Akter Jame, Badhan Rani Dey, Sultana Parvin, Md. Shah Poran Shuvo, Md. Shahidul Islam, Tania Mannan, Snygdha Rani Das, Md. Mahmudul Hasan   +13 more
wiley   +1 more source

Self‐Immolative Systems in Diagnostic and Therapeutic Applications

ChemMedChem, Volume 21, Issue 5, 13 March 2026.
Self‐Immolative Systems enable the precise, residue‐free release of active molecules, drugs, probes, or sensors, via cyclization or elimination, triggered by specific stimuli. Their versatility drives advances in drug delivery, diagnostics, nanotechnology, materials chemistry, and biosensing, offering chemists control over molecular activation and ...
Windbedema Prisca Ouédraogo, Thomas Cailly, Valérie Collot   +2 more
wiley   +1 more source

RNA‐Based Therapies for Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Inherited metabolic disorders (IMDs) are a diverse and complex group of genetic conditions resulting from deficiencies in enzymes, transporters, or cofactors. These deficiencies lead to metabolic dysfunction and severe clinical consequences. Despite significant progress in understanding their molecular basis, treatment options remain limited ...
Reddy Sreekanth Vootukuri, Sonam Gurung, Roopkatha Ghosh, Philippa B. Mills, Julien Baruteau, Haiyan Zhou   +5 more
wiley   +1 more source

Long-term effect of antibodies against infused alpha-galactosidase A in Fabry disease on plasma and urinary (lyso)Gb3 reduction and treatment outcome.

PLoS ONE, 2012
IntroductionEnzyme replacement therapy (ERT) with alpha-Galactosidase A (aGal A) may cause antibody (AB) formation against aGal A in males with Fabry disease (FD). Anti agalsidase ABs negatively influence globotriaosylceramide (Gb3) reduction.
Saskia M Rombach, Johannes M F G Aerts, Ben J H M Poorthuis, Johanna E M Groener, Wilma Donker-Koopman, Erik Hendriks, Mina Mirzaian, Sijmen Kuiper, Frits A Wijburg, Carla E M Hollak, Gabor E Linthorst   +10 more
doaj   +1 more source

A Meta‐Analysis to Unveil the Diagnostic Gaps in Anderson–Fabry Disease in Women

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Anderson–Fabry disease (AFD) is an X‐linked lysosomal storage disorder caused by mutations in the GLA gene, leading to deficient α‐galactosidase A activity. Although historically considered a male disease, it is now recognized that heterozygous women can present with a wide range of symptoms. However, diagnosis in women remains challenging, as
L. Lenzini, G. Pintus, G. Gugelmo, A. P. Burlina, G. P. Fadini, A. B. Burlina, N. Vitturi   +6 more
wiley   +1 more source

Imbalanced Production of Reactive Oxygen Species and Mitochondrial Antioxidant SOD2 in Fabry Disease-Specific Human Induced Pluripotent Stem Cell-Differentiated Vascular Endothelial Cells

Cell Transplantation, 2017
Fabry disease (FD) is an X-linked inherited lysosomal storage disease caused by α-galactosidase A (GLA) deficiency. Progressive intracellular accumulation of globotriaosylceramide (Gb3) is considered to be pathogenically responsible for the phenotype ...
Wei-Lien Tseng, Shih-Jie Chou, Huai-Chih Chiang, Mong-Lien Wang, Chian-Shiu Chien, Kuan-Hsuan Chen, Hsin-Bang Leu, Chien-Ying Wang, Yuh-Lih Chang, Yung-Yang Liu, Yuh-Jyh Jong, Shinn-Zong Lin, Shih-Hwa Chiou, Shing-Jong Lin, Wen-Chung Yu   +14 more
doaj   +1 more source

Accumulation of α-synuclein mediates podocyte injury in Fabry nephropathy

The Journal of Clinical Investigation, 2023
Current therapies for Fabry disease are based on reversing intracellular accumulation of globotriaosylceramide (Gb3) by enzyme replacement therapy (ERT) or chaperone-mediated stabilization of the defective enzyme, thereby alleviating lysosomal ...
Fabian Braun, Ahmed Abed, Dominik Sellung, Manuel Rogg, Mathias Woidy, Oysten Eikrem, Nicola Wanner, Jessica Gambardella, Sandra D. Laufer, Fabian Haas, Milagros N. Wong, Bernhard Dumoulin, Paula Rischke, Anne Mühlig, Wiebke Sachs, Katharina von Cossel, Kristina Schulz, Nicole Muschol, Sören W. Gersting, Ania C. Muntau, Oliver Kretz, Oliver Hahn, Markus M. Rinschen, Michael Mauer, Tillmann Bork, Florian Grahammer, Wei Liang, Thorsten Eierhoff, Winfried Römer, Arne Hansen, Catherine Meyer-Schwesinger, Guido Iaccarino, Camilla Tøndel, Hans-Peter Marti, Behzad Najafian, Victor G. Puelles, Christoph Schell, Tobias B. Huber   +37 more
doaj   +1 more source