Results 51 to 60 of about 7,193 (177)

#2635 ASSOCIATION BETWEEN PLASMA LYSO-GB3 LEVELS AND BONE MINERAL DENSITY IN PATIENTS WITH FABRY DISEASE

Nephrology Dialysis Transplantation, 2023
Abstract Background and Aims Fabry disease is a rare X-linked genetic disorder that contributes to various clinical manifestations including cardiac hypertrophy, renal dysfunction, cerebrovascular disease, angiokeratoma, and anhidrosis.
Yuma Nose, Hideki Fujii, Shunsuke Goto, Keiji Kono, Hayaki Okamoto, Kentaro Watanabe, Shinichi Nishi   +6 more
openaire   +1 more source

Myocardial Lipid Metabolism Imbalance: The Pathological Core and Novel Diagnostic‐Therapeutic Directions of Cardiovascular Diseases

Journal of Biochemical and Molecular Toxicology, Volume 40, Issue 8, August 2026.
In cardiac cells, Plin5/AMPK regulate lipid homeostasis; excess CD36‐mediated uptake drives lipotoxicity, mitochondrial dysfunction, and CVDs (e.g., heart failure). Biomarkers (ApoB/ApoA‐1) and therapies (SGLT2 inhibitors) target this cascade. ABSTRACT Cardiac lipid metabolism is fundamental to myocardial energy homeostasis, with fatty acid oxidation ...
Peiyun Xie, Qun Zeng, Hongrui Wang, Meihua She   +3 more
wiley   +1 more source

Effects of Gb3 and lyso-Gb3 treatments on EMT through PI3K/AKT pathway in HK2 cells.

, 2015
(A–C) Immunoblotting analysis of TGF-β, EMT markers, and phosphorylation of PI3K/AKT following Gb3 (30 μM and 45 μM) treatment of HK2 cells for 72 h. (D–F) Immunoblotting analysis of TGF-β, EMT markers, and phosphorylation of PI3K/AKT following lyso-Gb3 (
Sung-Chul Jung (785337), Hae-Young Park (785336), Joo-Won Park (785335), Namhee Jung (589929), Yeo Jin Jeon (785334)   +4 more
core   +1 more source

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

Retinal hyperreflective foci in Fabry disease

Orphanet Journal of Rare Diseases, 2019
Background Fabry disease (FD) is an X-linked inherited storage disorder caused by deficiency of lysosomal alpha-Galactosidase A. Here we describe new retinal findings in patients with FD assessed by Spectral domain optical coherence tomography (SD-OCT ...
Yevgeniya Atiskova, Rahman Rassuli, Anja Friederike Koehn, Amir Golsari, Lars Wagenfeld, Marcel du Moulin, Nicole Muschol, Simon Dulz   +7 more
doaj   +1 more source

Effects of Gb3 and lyso-Gb3 treatments on ECM component expression in HK2 cells.

, 2015
(A) Immunoblotting analysis of fibronectin and type IV collagen following Gb3 (30 μM and 45 μM, respectively) treatment of HK2 cells for 72 h. (B) Immunoblotting analysis of fibronectin and type IV collagen following lyso-Gb3 (200 nM and 400 nM ...
Sung-Chul Jung (785337), Hae-Young Park (785336), Joo-Won Park (785335), Namhee Jung (589929), Yeo Jin Jeon (785334)   +4 more
core   +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

Fabry disease and incidence of cancer

Orphanet Journal of Rare Diseases, 2017
Background Fabry disease is an X-linked lysosomal storage disorder caused by deficient activity of α-galactosidase A and the resulting accumulation of the glycosphingolipid globotriaosylceramide (Gb3) and its derivatives, including ...
Sarah Bird, Efthymios Hadjimichael, Atul Mehta, Uma Ramaswami, Derralynn Hughes   +4 more
doaj   +1 more source

Natural‐History Mapping of Lysosomal Storage Disorders (LSDs): Gaucher Disease as a Model for Precision Care

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Natural‐history datasets have become pivotal for drug development and for shaping clinical‐practice guidelines in rare diseases, yet many lysosomal storage disorders would benefit from deep phenotyping and modern analytic methods. Our objective was to integrate the past decade of genomic, cellular, treatment‐outcome, and regulatory advances ...
Noor Ul Ain, Maya Vaishnaw, Pramod. K. Mistry   +2 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