Glycosphingolipids and lysosomal storage disorders as illustrated by gaucher disease
نویسندگان
چکیده
منابع مشابه
Biomarkers for lysosomal storage disorders: identification and application as exemplified by chitotriosidase in Gaucher disease.
UNLABELLED A biomarker is an analyte that indicates the presence of a biological process linked to the clinical manifestations and outcome of a particular disease. An ideal biomarker provides indirect but ongoing determinations of disease activity. In the case of lysosomal storage disorders (LSDs), metabolites or proteins specifically secreted by storage cells are good candidates for biomarkers...
متن کاملGaucher disease and other storage disorders.
In 1882, Philippe Gaucher described a 32-year-old woman with massive splenomegaly and unusually large cells in the spleen, which he called a "primary epithelioma of the spleen." The systemic nature and inheritance of the disease and its variants involving the viscera and CNS were described over the next century. The delineation of the causal enzymatic defects, genetics, molecular pathology, and...
متن کاملOcular Features of Treatable Lysosomal Storage Disorders— Fabry Disease, Mucopolysaccharidoses I, II, and VI, and Gaucher Disease
Lysosomal storage disorders (LSDs) are a group of more than 50 inheritable disorders. Although individually rare, they collectively affect approximately one in 5,000 live births. Defective metabolism of proteins, carbohydrates, or lipids resulting from deficiency of one of the many lysosomal enzymes leads to pathological accumulation of substances within the lysosomes. This lysosomal accumulati...
متن کاملLysosomal Storage Disorders and Malignancy
Lysosomal storage disorders (LSDs) are infrequent to rare conditions caused by mutations that lead to a disruption in the usual sequential degradation of macromolecules or their transit within the cell. Gaucher disease (GD), a lipidosis, is among the most common LSD, with an estimated incidence of 1 in 40,000 among the Caucasian, non-Jewish population. Studies have indicated an increased freque...
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Lysosomal storage disorders (LSDs) are often caused by mutations that destabilize native folding and impair the trafficking of enzymes, leading to premature endoplasmic reticulum (ER)-associated degradation, deficiencies of specific hydrolytic functions and aberrant storage of metabolites in the lysosomes. Enzyme replacement therapy (ERT) and substrate reduction therapy (SRT) are available for ...
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ژورنال
عنوان ژورنال: Current Opinion in Chemical Biology
سال: 2019
ISSN: 1367-5931
DOI: 10.1016/j.cbpa.2019.10.006