Results 81 to 90 of about 9,057,553 (322)
Chemistry – A European Journal, EarlyView.We designed and synthesized novel mannose‐6‐phosphate (M6P) derivatives to enhance their binding affinity for the CI‐M6P/IGF2 receptor, which plays a key role in lysosomal targeting. Using a fluorescence polarization assay, we evaluated di‐, tri‐, and penta‐M6P peptides and modified M6P analogs.
Lucie Mrázková +11 more
wiley +1 more source
Best Practice & Research Clinical Endocrinology & Metabolism, 2015 Fabry disease is induced by a mutation in the alpha-galactosidase A gene, causing a deficiency of the enzyme alpha-galactosidase A. (1) The enzyme defect leads to progressive intracellular accumulation of globotriaosylceramide in lysosomes of various tissues and organs, including heart, kidney and nerve system.
Frank Weidemann +4 more
openaire +3 more sources
, 2021 Fabry disease (FD) is a lysosomal storage disorder where deficient or completely absent activity of the enzyme α-galactosidas A leads to accumulation of globotriaosylceramide (Gb3) and other glycosphingolipids in lysosomes. The condition is rare, approximately 1:50,000, although underdiagnosis seems frequent.
Ida, Kåks,, Peter, Magnusson,
openaire +4 more sources
Evidence for a role of sphingosine-1 phosphate in cardiovascular remodelling in Fabry disease [PDF]
, 2017 Aims A hallmark of Fabry disease is the concomitant development of left-ventricular hypertrophy and arterial intima-media thickening, the pathogenesis of which is thought to be related to the presence of a plasmatic circulating growth-promoting factor ...
Barbey, Frédéric +7 more
core
Ascending aortic remodelling in Fabry disease after long-term enzyme replacement therapy. [PDF]
, 2017 Previous cross-sectional studies reported a high prevalence of ascending aorta dilations/aneurysms in male adults with Fabry disease, independently of cardiovascular risk factors.
Barbey, F. +6 more
core +1 more source
ChemMedChem, Accepted Article.The cannabinoid receptor type 2 (CB2R) is overexpressed under pathological conditions. PET is a suitable non‐invasive imaging technique for diagnosing disease states, but requires a radiotracer that binds to CB2R with high affinity and selectivity. Currently, there is no suitable candidate routinely used in the clinics.
Lea Ueberham +4 more
wiley +1 more source
Cornea verticillata in Fabry disease [PDF]
Терапевтический архив, 2018 Cornea verticillata is the typical sign of ocular involvement in Fabry disease and manifests by the whorl-like, linear opacities in the inferior part of the cornea. Aim.
S V Moiseev +6 more
doaj +1 more source
Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review [PDF]
, 2010 Most lysosomal diseases (LD) are inherited as autosomal recessive traits, but two important conditions have X-linked inheritance: Fabry disease and Mucopolysaccharidosis II (MPS II).
Ida VD Schwartz +3 more
core +2 more sources
ESC Heart Failure, Volume 12, Issue 2, Page 955-967, April 2025.Abstract Wild‐type transthyretin amyloid cardiomyopathy (ATTRwt‐CM) is a progressive and infiltrative cardiac disorder that may cause fatal consequences if left untreated. The estimated survival time from diagnosis is approximately 3–6 years. Because of the non‐specificity of initial symptom manifestation and insufficient awareness among treating ...
Yasuhiro Izumiya +9 more
wiley +1 more source
The Prevalence of Fabry Disease in Patients with Chronic Kidney Disease in Turkey: The TURKFAB Study
Kidney & Blood Pressure Research, 2016 Background/Aims: Fabry disease is a treatable cause of chronic kidney disease (CKD) characterized by a genetic deficiency of α-galactosidase A. European Renal Best Practice (ERBP) recommends screening for Fabry disease in CKD patients.
Kultigin Turkmen +18 more
doaj +1 more source