Aberrant progranulin, YKL-40, cathepsin D and cathepsin S in Gaucher disease
نویسندگان
چکیده
منابع مشابه
Human cathepsin D.
A literature survey was performed of human cathepsin D gene, cathepsin D biosynthesis, posttranslatory modifications, transport within the cell, substrate specificity and catalytic effect. Methods used to determine the activity and level of this proteinase as well as its role in the biochemistry and pathobiochemistry of cells, tissues and organs were considered.
متن کاملCathepsin D inhibitors.
Inhibitors of cathepsin D belong to chemical compounds that estrify carboxyl groups of the Asp33 and Asp231 residues of its catalytic site, penta-peptides containing statin, i.e. the amino acid similar in structure to the tetraedric indirect product, and polypeptides found in the spare organs of many plants and forming permanent noncovalent complexes with cathepsin. Cathepsin D activity is also...
متن کاملAssociation Between Progranulin and Gaucher Disease
BACKGROUND Gaucher disease (GD) is a genetic disease caused by mutations in the GBA1 gene which result in reduced enzymatic activity of β-glucocerebrosidase (GCase). This study identified the progranulin (PGRN) gene (GRN) as another gene associated with GD. METHODS Serum levels of PGRN were measured from 115 GD patients and 99 healthy controls, whole GRN gene from 40 GD patients was sequenced...
متن کاملThe specificity of cathepsin D.
Bovine spleen cathepsin D has been partially purified for studies of its specificity. Isoelectric focusing of the purest preparation obtained indicated the presence of three molecular forms having approximately the same specific activity, but differing in their isoelectric points. Gel chromatography of this preparation on Sephadex G-100 gave an apparent molecular weight of about 42,000, and its...
متن کاملPlasma Cathepsin S and Cathepsin S/Cystatin C Ratios Are Potential Biomarkers for COPD
Purpose. This study aimed to examine whether plasma levels of cathepsin S or its inhibitor, cystatin C, may serve as biomarkers for COPD. Patients and Methods. We measured anthropometrics and performed pulmonary function tests and chest CT scans on 94 patients with COPD and 31 subjects with productive cough but no airflow obstruction ("at risk"; AR). In these subjects and in 52 healthy nonsmoke...
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ژورنال
عنوان ژورنال: Molecular Genetics and Metabolism
سال: 2019
ISSN: 1096-7192
DOI: 10.1016/j.ymgme.2019.07.014