Engineering of GlcNAc-1-phosphotransferase for production of highly phosphorylated lysosomal enzymes for enzyme replacement therapy [PDF]
, 2017 Several lysosomal enzymes currently used for enzyme replacement therapy in patients with lysosomal storage diseases contain very low levels of mannose 6-phosphate, limiting their uptake via mannose 6-phosphate receptors on the surface of the deficient ...
Doray, Balraj +3 more
core +3 more sources
Cytosolic Glucosylceramide regulates endolysosomal function in Niemann-Pick type C disease [PDF]
, 2019 A new paradigm for Niemann-Pick C disease is presented where lysosomal storage leads to a deficit in cytoplasmic glucosylceramide (GlcCer) where it performs important functions.
Bhardwaj, Meenakshi +5 more
core +1 more source
Glucosylsphingosine Is a Highly Sensitive and Specific Biomarker for Primary Diagnostic and Follow-Up Monitoring in Gaucher Disease in a Non-Jewish, Caucasian Cohort of Gaucher Disease Patients [PDF]
, 2013 Gaucher disease (GD) is the most common lysosomal storage disorder (LSD). Based on a deficient β-glucocerebrosidase it leads to an accumulation of glucosylceramide. Standard diagnostic procedures include measurement of enzyme activity, genetic testing as
A Zimran +51 more
core +7 more sources
Molecular Genetics and Metabolism Reports, 2019 Advanced liver disease complicated by hepatopulmonary syndrome is a recognized complication of Gaucher disease. Macrophage-targeted, recombinant enzyme replacement therapy is effective in reversing clinical manifestations attributed to the accumulation ...
Amal El Beshlawy +3 more
doaj +1 more source
Gaucher Disease in Bone: From Pathophysiology to Practice
Journal of Bone and Mineral Research, 2019 Gaucher disease (GD) is a rare, genetic lysosomal disorder leading to lipid accumulation and dysfunction in multiple organs. Involvement of the skeleton is one of the most prevalent aspects of GD and a major cause of pain, disability, and reduced quality
D. Hughes +10 more
semanticscholar +1 more source
Cytokines in Gaucher disease: Role in the pathogenesis of bone and pulmonary disease
Egyptian Journal of Medical Human Genetics, 2015 Gaucher disease (GD) is the most frequently encountered lysosomal storage disease caused by inborn defects of the membrane-bound lysosomal enzyme, acid β-glucosidase or glucocerebrosidase.
Azza A.G. Tantawy
doaj +1 more source
Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells. [PDF]
, 2014 Gaucher disease is caused by mutations in the glucocerebrosidase gene, which encodes the lysosomal hydrolase glucosylceramidase. Patients with Gaucher disease and heterozygous glucocerebrosidase mutation carriers are at increased risk of developing ...
Abramov, AY +10 more
core +1 more source
Erythrocytes as Carriers of Therapeutic Enzymes. [PDF]
, 2020 Therapeutic enzymes are administered for the treatment of a wide variety of diseases. They exert their effects through binding with a high affinity and specificity to disease-causing substrates to catalyze their conversion to a non-noxious product, to ...
Bax, BE
core +1 more source
GBA, Gaucher Disease, and Parkinson’s Disease: From Genetic to Clinic to New Therapeutic Approaches
Cells, 2019 Parkinson’s disease (PD) is the second most common degenerative disorder. Although the disease was described more than 200 years ago, its pathogenetic mechanisms have not yet been fully described. In recent years, the discovery of the association between
G. Riboldi, A. di Fonzo
semanticscholar +1 more source
Vesivirus 2117 capsids more closely resemble sapovirus and lagovirus particles than other known vesivirus structures [PDF]
, 2017 Vesivirus 2117 is an adventitious agent that in 2009, was identified as a contaminant of CHO cells propagated in bioreactors at a pharmaceutical manufacturing plant belonging to Genzyme.
Bhella, David +8 more
core +1 more source