Results 51 to 60 of about 3,683 (169)
The effects of globotriaosylceramide tail saturation level on bilayer phases
Soft Matter, 2015 The globotriaosylceramide acyl chains from one leaflet interdigitate into the opposing leaflet and lead to significant bilayer rigidification and immobilisation of the lipid tails. Globotriaosylceramide with saturated acyl chains can form a highly ordered, relatively immobile phase which is resistant to bending.
Weria Pezeshkian +5 more
openaire +5 more sources
p.R220L Is a Likely Pathogenic Novel GLA Gene Mutation Responsible for Fabry Disease
Anatolian Journal of Cardiology, 2022 Fabry disease is a progressive and rare storage disease that occurs due to low or complete deficiency of lysosomal alpha galactosidase-A (α-GLA) enzyme activity.
Hasan Ali Barman +5 more
doaj +1 more source
Design of Nanocarriers for Kidney Targeted Delivery of Nucleic Acid Therapeutics
Macromolecular Bioscience, Volume 26, Issue 7, July 2026.Nucleic acid therapeutics have been investigated to expand their applications to renal genetic disorders. This review summarizes key considerations in the design and fabrication of nanocarriers for the systemic delivery of nucleic acid therapeutics to the kidneys.
Jun Hyuk Lee +3 more
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 +5 more
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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 +7 more
wiley +1 more source
Терапевтический архив, 2013 The paper discusses the specific features of the diagnosis and treatment of kidney involvement in patients with Fabry disease.
V V Fomin, A A Pulin, N A Mukhin
doaj
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
Orphanet Journal of Rare Diseases, 2018 Background Fabry disease is frequently characterized by gastrointestinal symptoms, including diarrhea. Migalastat is an orally-administered small molecule approved to treat the symptoms of Fabry disease in patients with amenable mutations.
Raphael Schiffmann +15 more
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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 +3 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 +17 more
wiley +1 more source