Journal of Medical Genetics, 2016 Background Fabry disease is an X-linked lysosomal storage disorder caused by GLA mutations, resulting in α-galactosidase (α-Gal) deficiency and accumulation of lysosomal substrates.
D. Hughes +37 more
semanticscholar +1 more source
Ileocecal appendix involvement in fabry disease mimicking an acute abdomen [PDF]
, 2014 Anderson-Fabry disease (AFD) is a rare, X-linked, lysosomal storage disorder due to a deficiency of alphagalactosidase A. The direct consequence is a lipid storage with the accumulation of glycosphingolipids throughout the body.
Cristi E +5 more
core +1 more source
Exploiting metabolic adaptations to overcome dabrafenib treatment resistance in melanoma cells
Molecular Oncology, EarlyView.We show that dabrafenib‐resistant melanoma cells undergo mitochondrial remodeling, leading to elevated respiration and ROS production balanced by stronger antioxidant defenses. This altered redox state promotes survival despite mitochondrial damage but renders resistant cells highly vulnerable to ROS‐inducing compounds such as PEITC, highlighting redox
Silvia Eller +17 more
wiley +1 more source
Update on role of agalsidase alfa in management of Fabry disease
Drug Design, Development and Therapy, 2011 Uma RamaswamiPaediatric Metabolic Unit, Cambridge University Hospitals, Cambridge, UKAbstract: Fabry disease (FD) is an X-linked lysosomal storage disorder that affects both men and women.
Uma Ramaswami
doaj
Clinical outcome of a patient with lysosomal acid lipase deficiency and first results after initiation of treatment with Sebelipase alfa: A case report [PDF]
, 2019 We report on a case of very rare autosomal recessive cholesteryl ester storage disease due to lysosomal acid lipase deficiency (LALD). LALD is caused by mutations in the lysosomal acid lipase A (LIPA) gene resulting in cholesteryl ester accumulation in
Bobbert, Thomas +8 more
core +1 more source
Molecular Oncology, EarlyView.Pharmacologic ascorbate (vitamin C) increases ROS, disrupts cellular metabolism, and induces DNA damage in CRPC cells. These effects sensitize tumors to PARP inhibition, producing synergistic growth suppression with olaparib in vitro and significantly delayed tumor progression in vivo. Pyruvate rescue confirms ROS‐dependent activity.
Nicolas Gordon +13 more
wiley +1 more source
Late-onset Pompe disease: preliminary results of enzyme replacement therapy
Нервно-мышечные болезни, 2019 Pompe disease is an orphan hereditary accumulation disease associated with a deficiency of the lysosomal enzyme alglucosidase alpha. Manifestations of the disease are associated with pathological deposition of glycogen in body tissues as a result of GAA ...
L. P. Smertina +4 more
doaj +1 more source
Clinical and event-based outcomes of patients with mucopolysaccharidosis VI receiving enzyme replacement therapy in Turkey: a case series [PDF]
, 2021 Aslı İnci +5 more
openalex +1 more source
Targeted delivery of lysosomal enzymes to the endocytic compartment in human cells using engineered extracellular vesicles. [PDF]
, 2019 Targeted delivery of lysosomal enzymes to the endocytic compartment of human cells represents a transformative technology for treating a large family of lysosomal storage diseases (LSDs).
Brown, Annie +4 more
core +1 more source
Enzyme replacement therapies: What is the best option? [PDF]
, 2018 Despite many beneficial outcomes of the conventional enzyme replacement therapy (ERT), several limitations such as the high-cost of the treatment and various inadvertent side effects including the occurrence of an immunological response against the ...
Barar, Jaleh +4 more
core +2 more sources