Ferroptosis and its modulation by autophagy in light of the pathogenesis of lysosomal storage diseases
Ferroptosis is one of the recently described types of cell death which is dependent on many
factors, including the accumulation of iron and lipid peroxidation. Its induction requires …
factors, including the accumulation of iron and lipid peroxidation. Its induction requires …
Glycoengineering Chinese hamster ovary cells: a short history
Biotherapeutic glycoproteins have revolutionised the field of pharmaceuticals, with new
discoveries and continuous improvements underpinning the rapid growth of this industry. N …
discoveries and continuous improvements underpinning the rapid growth of this industry. N …
The Spanish Fabry women study: a retrospective observational study describing the phenotype of females with GLA variants
Background Fabry disease (FD) is an X-linked condition caused by variants in the GLA
gene. Since females have two X chromosomes, they were historically thought to be carriers …
gene. Since females have two X chromosomes, they were historically thought to be carriers …
Biochemical Mechanisms beyond Glycosphingolipid Accumulation in Fabry Disease: Might They Provide Additional Therapeutic Treatments?
G Bertoldi, I Caputo, G Driussi, LF Stefanelli… - Journal of Clinical …, 2023 - mdpi.com
Fabry disease is a rare X-linked disease characterized by deficient expression and activity of
alpha-galactosidase A (α-GalA) with consequent lysosomal accumulation of …
alpha-galactosidase A (α-GalA) with consequent lysosomal accumulation of …
[HTML][HTML] 2021 TSOC expert consensus on the clinical features, diagnosis, and clinical management of cardiac manifestations of Fabry disease
Fabry disease (FD) is an X-linked, rare inherited lysosomal storage disease caused by α-
galactosidase A gene variants resulting in deficient or undetectable α-galactosidase A …
galactosidase A gene variants resulting in deficient or undetectable α-galactosidase A …
Fabry disease and kidney involvement: starting from childhood to understand the future
R Chimenz, V Chirico, C Cuppari, G Ceravolo… - Pediatric …, 2022 - Springer
The accumulation of globotriaosylceramide (Gb-3) in multiple organs, such as the heart,
kidney, and nervous system, due to mutations in the galactosidase alpha (GLA) gene …
kidney, and nervous system, due to mutations in the galactosidase alpha (GLA) gene …
Outcomes and management of kidney transplant recipients with Fabry disease: a review
Fabry disease is an X-linked inheritable lysosomal storage disease caused by various
mutations of the galactosidase α gene resulting in α-galactosidase deficiency. Chronic …
mutations of the galactosidase α gene resulting in α-galactosidase deficiency. Chronic …
Newborn genetic screening for Fabry disease: Insights from a retrospective analysis in Nan**g, China
Y Sun, XW Guan, YY Wang, DY Hong, ZL Zhang… - Clinica Chimica …, 2024 - Elsevier
Fabry disease (FD), an X-linked disorder resulting from dysfunction of α-galactosidase A,
can result in significant complications. Early intervention yields better outcomes, but …
can result in significant complications. Early intervention yields better outcomes, but …
[HTML][HTML] Antigen-display exosomes provide adjuvant-free protection against SARS-CoV-2 disease at nanogram levels of spike protein
As the only bionormal nanovesicle, exosomes have high potential as a nanovesicle for
delivering vaccines and therapeutics. We show here that the loading of type-1 membrane …
delivering vaccines and therapeutics. We show here that the loading of type-1 membrane …
[HTML][HTML] Longitudinal biomarker evaluation in Fabry disease patients receiving lentivirus-mediated gene therapy
C Auray-Blais, P Lavoie, T Martineau… - Rare Disease and …, 2024 - oaepublish.com
Aim: In 2016, a team of Canadian researchers initiated the world's first gene therapy clinical
trial for Fabry disease. The study, aiming to determine the safety and toxicity of lentivirus α …
trial for Fabry disease. The study, aiming to determine the safety and toxicity of lentivirus α …