Results 61 to 70 of about 3,830 (166)

Heart failure in two male patients with late‐onset Fabry mutation (IVS4 + 919G > A)

ESC Heart Failure, Volume 12, Issue 2, Page 1508-1513, April 2025.
Xufei Yang, Chunlan Deng, Xiaogang Guo, Hui Yan   +3 more
wiley   +1 more source

Glycosphingolipid Storage in Fabry Mice Extends Beyond Globotriaosylceramide and is Affected by ABCB1 Depletion [PDF]

Future Science OA, 2016
Fabry disease is caused by α-galactosidase A deficiency leading to accumulation of globotriaosylceramide (Gb3) in tissues. Clinical manifestations do not appear to correlate with total Gb3 levels. Studies examining tissue distribution of specific acyl chain species of Gb3 and upstream glycosphingolipids are lacking.Thorough characterization of the ...
Kamani, Mustafa A, Provençal, Philippe, Boutin, Michel, Pacienza, Natalia, Fan, Xin, Novak, Anton, Huang, Tonny C, Binnington, Beth, Au, Bryan C, Auray-Blais, Christiane, Lingwood, Clifford A, Medin, Jeffrey A   +11 more
openaire   +2 more sources

Current Topics of Progressive Cardiac Conduction Disease

Journal of Arrhythmia, Volume 42, Issue 3, June 2026.
Many genes and the protein cause PCCD. Mutation of NaV1.5 or CX40 cause isolated PCCD, but mutation of lamin A/C, emerin, or desmin lead to cardiomyopathy, and PCCD. Mutation of transcription factor NCX2‐5, and Tbx5 associated with atrial septal defect and abnormal development of conduction system.
Naokata Sumitomo, Hitoshi Mori, Takashi Kumamoto, Taisuke Ishikawa, Akiko Seki, Naomasa Makita, Jean‐Jacques Schott, Arthur A. M. Wilde   +7 more
wiley   +1 more source

Globotriaosylceramide Gb3 Influences Wound Healing and Scar Formation by Orchestrating Fibroblast Heterogeneity

Advanced Science
Cutaneous fibroblast heterogeneity is mechanistically linked to wound repair outcomes and fibrotic progression, with glycosphingolipid metabolism emerging as a critical determinant of physiological fibroblast diversity.
Sujie Xie, Runzhi Huang, Weijin Qian, Xinran Ding, Wei Zhang, Yixu Li, Jianyu Lu, Hanlin Sun, Yifan Liu, Yuntao Yao, Bingnan Lu, Minjuan Wu, Zhaofan Xia, Shizhao Ji   +13 more
doaj   +1 more source

Septins in the Middle—Makers and Breakers of Membrane Contact Sites

Journal of Neurochemistry, Volume 170, Issue 6, June 2026.
Septins are a family of GTP‐binding proteins that assemble into heteromeric oligomers and polymers, associating with specific membrane domains and organelles according to their subunit composition. Growing evidence places septins at membrane contact sites (MCS) — key hubs for intracellular communication that mediate exchange of ions, lipids, and ...
TrishaJean J. Holt, Elias T. Spiliotis
wiley   +1 more source

Globotriaosylceramide, Gb3, is an alternative functional receptor for Shiga-like toxin 2e [PDF]

Infection and Immunity, 1995
We reexamined the binding specificity of the Shiga-like toxin variant associated with porcine edema disease, SLT2e, which is reported to be more cytotoxic for Vero cells than for HeLa cells, by using receptor-deficient cells and a liposomal insertion system for purified glycolipids.
G T, Keusch, M, Jacewicz, D W, Acheson, A, Donohue-Rolfe, A V, Kane, R H, McCluer   +5 more
openaire   +2 more sources

Liver Gene Therapy in Fabry Disease Mice With Low Doses of rAAV2/8 Expressing a Codon‐Optimized hGLA cDNA Results in Long‐Term Disease Correction

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
AAV‐mediated gene therapy targets the liver to produce and secrete into circulation functional α‐Gal A, which is taken up by tissues to reduce glycosphingolipid accumulation and prevent disease progression in juvenile Fabry mice, even at low AAV doses. ABSTRACT Fabry disease (FD) is an X‐linked lysosomal storage disorder caused by mutations in the GLA ...
Himanshi Saxena, Rossana Domenis, Giulia Romano, Jessica Biasizzo, Martina Ferro, Dania Ferino, Antonio Vicidomini, Alessandra Iaconcig, Giulia Bortolussi, Lorena Zentilin, Andrea Dardis, Andrés F. Muro   +11 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

Development of CAR NK Cell Lines Selectively Targeting Cancer Cells Expressing Membrane Hsp70

MedComm, Volume 7, Issue 5, May 2026.
This work presents a novel CAR NK cell platform targeting membrane‐bound Hsp70, a tumor‐specific antigen broadly expressed on solid tumors but not on normal cells. Computational modeling confirmed strong binding between the CAR construct and the Hsp70‐derived TKD peptide.
Khouloud Hachani, Mina Yazdi, Charlotte Carcopino, Fatemeh Khademi Moghadam, Micholas Dean Smith, Anskar Trill, Marcel P. Trefny, Morteza Hasanzadeh Kafshgari, Cosima C. Hoch, Abdallah Gaballa, Bayan Alkotub, Jennifer Altomonte, A. Graham Pockley, Ernst Wagner, Barbara Wollenberg, Sebastian Kobold, Gabriele Multhoff, Ali Bashiri Dezfouli   +17 more
wiley   +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