نتایج جستجو برای: lysosomal storage
تعداد نتایج: 196223 فیلتر نتایج به سال:
BACKGROUND Lysosomal storage diseases are characterized by intracellular accumulation of metabolites within lysosomes. Recent evidence suggests that lysosomal storage impairs autophagy resulting in accumulation of polyubiquitinated proteins and dysfunctional mitochondria, ultimately leading to apoptosis. We studied the relationship between lysosome storage and impairment of different intracellu...
BACKGROUND Lysosomal storage disorders are a group of genetic diseases, each with a broad spectrum of clinical presentation that ranges from attenuated to severe. The immunochemical analysis of patient samples is aimed at several key aspects of patient management, including early detection of the disorder, prediction of clinical severity, determining the most appropriate therapeutic regimen, an...
We demonstrated previously that short term administration of recombinant beta-glucuronidase to newborn mice with mucopolysaccharidosis type VII reduced lysosomal storage in many tissues. Lysosomal storage accumulated gradually after cessation of enzyme replacement therapy. Mice alive at 1 yr of age had decreased bone deformities and less lysosomal storage in cortical neurons. Here we compare th...
Mucopolysaccharidosis VII (MPS VII) is caused by beta-glucuronidase (beta-gluc) deficiency and results in lysosomal storage due to the inability to degrade glycosaminoglycans. Transfer of a beta-gluc gene into the liver reduces hepatic pathology as well as storage in other organs via uptake of secreted protein. A Moloney murine leukemia-based retroviral vector expressing the human beta-gluc cDN...
Niemann-Pick disease type C (NPC) and Wolman disease are two members of a family of storage disorders caused by mutations of genes encoding lysosomal proteins. Deficiency in function of either the NPC1 or NPC2 protein in NPC disease or lysosomal acid lipase in Wolman disease results in defective cellular cholesterol trafficking. Lysosomal accumulation of cholesterol and enlarged lysosomes are s...
Gaucher disease is the most common lysosomal storage disease, and the first lysosomal storage disease for which a specific therapy has been developed. Enzyme replacement therapy, with glucocerebrosidase purified from human placentae, was introduced in 1991. Recombinant human glucocerebrosidase, produced by Chinese hamster ovary cells in tissue culture, became available in 1994 and has replaced ...
Gangliosidosis GM1, is a lipid storage disorder due to deficiency of the lysosomal enzyme &beta-galactosidase. This deficiency leads to lysosomal accumulation of gangliosidosis GM1 to be, which contributes to swelling, cell damage and dysfunction of the organs. Gangliosidosis GM1a rare neurodegenerative disorder. Mongolian spots are significant clinical sign in some of the metabolic diseases, s...
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