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
Insight into the Role of Extracellular Vesicles in Lysosomal Storage Disorders
Genes, 2019 Extracellular vesicles (EVs) have received increasing attention over the last two decades. Initially, they were considered as just a garbage disposal tool; however, it has progressively become clear that their protein, nucleic acid (namely miRNA and mRNA)
B. Tancini +6 more
semanticscholar +1 more source
The use of Ambroxol for the treatment of Gaucher disease: A systematic review
eJHaemGaucher disease (GD) is a heterogeneous condition requiring tailored treatment approaches. The aim of this systematic review was to synthesise and evaluate current evidence pertaining to the use of Ambroxol for the treatment of GD.
Diego Agustín Abelleyra Lastoria +2 more
doaj +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
EMBO Journal, 2018 Neuropathic lysosomal storage disorders (LSDs) present with activated pro‐inflammatory microglia. However, anti‐inflammatory treatment failed to improve disease pathology.
E. Gabandé-Rodríguez +8 more
semanticscholar +1 more source
Lyso-IP: Uncovering Pathogenic Mechanisms of Lysosomal Dysfunction
Biomolecules, 2022 Lysosomes are ubiquitous membrane-bound organelles found in all eukaryotic cells. Outside of their well-known degradative function, lysosomes are integral in maintaining cellular homeostasis. Growing evidence has shown that lysosomal dysfunction plays an
Chase Chen, Ellen Sidransky, Yu Chen
doaj +1 more source
Biomedicines, 2021 Herein, we explored the impact of the lysosome dysfunction during the progression of Amyotrophic Lateral Sclerosis type-1 (ALS1). We conducted the study in non-neural cells, primary fibroblasts (rFFFs), and bone marrow-mesenchymal stem cells (rBM-MSCs ...
Ilaria Bicchi +7 more
doaj +1 more source
Orphan drugs and the NHS: Should we value rarity [PDF]
, 2005 Cost effectiveness plays an important part in current decisions about the funding of health technologies. Drugs for rare disease (orphan drugs) are often expensive to produce and, by definition, will benefit only small numbers of patients.
Claxton, K., McCabe, C., Tsuchiya, A.
core +2 more sources
Whole genome sequencing for mutation discovery in a single case of lysosomal storage disease (MPS type 1) in the dog. [PDF]
, 2020 Mucopolysaccharidosis (MPS) is a metabolic storage disorder caused by the deficiency of any lysosomal enzyme required for the breakdown of glycosaminoglycans.
Aguilar, Miriam +13 more
core +3 more sources
Individual heat map assessments demonstrate vestronidase alfa treatment response in a highly heterogeneous mucopolysaccharidosis VII study population. [PDF]
, 2019 Mucopolysaccharidosis (MPS) VII is an ultra-rare, progressively debilitating, life-threatening lysosomal disease caused by deficiency of the enzyme, β-glucuronidase. Vestronidase alfa is an approved enzyme replacement therapy for MPS VII. UX003-CL301 was
Bauer, Mislen +7 more
core +1 more source