نتایج جستجو برای: lysosomal disorders
تعداد نتایج: 684439 فیلتر نتایج به سال:
Inflammation is a normal protective response to tissue injury caused by physical trauma, noxious chemical or microbial agents. The lysosomal enzymes released during inflammation produced a variety of disorders. The extracellular activity of these enzymes is said to be related to acute or chronic inflammation. Stabilization of lysosomal membrane is important in limiting the inflammatory response...
Gaucher disease (GD) is the most common lysosomal storage disorder. Deficiency of the lysosomal enzyme glucocerebrosidase results in the intracellular accumulation of undegraded substrates in the spleen, liver and bone marrow. Enzyme replacement therapy (ERT) is a standard approach for type 1 GD. Here, we present an adult patient with hematological disorders due to type 1 GD, who markedly impro...
Lysosomes are cellular organelles primarily involved in degradation and recycling processes. During lysosomal exocytosis, a Ca²⁺-regulated process, lysosomes are docked to the cell surface and fuse with the plasma membrane (PM), emptying their content outside the cell. This process has an important role in secretion and PM repair. Here we show that the transcription factor EB (TFEB) regulates l...
This volume should be available to all clinicians caring for patients with this confusing group of disorders. Hematologists, geneticists, general surgeons, and pediatricians will find it of great value. Investigators whose field of interest includes the lysosomal storage diseases and the function of lysosomal hydrolases will also find it of value, particularly from the methodological point of v...
Lysosomes are organelles central to degradation and recycling processes in animal cells. Whether lysosomal activity is coordinated to respond to cellular needs remains unclear. We found that most lysosomal genes exhibit coordinated transcriptional behavior and are regulated by the transcription factor EB (TFEB). Under aberrant lysosomal storage conditions, TFEB translocated from the cytoplasm t...
The lysosomal storage diseases are a group of rare, inherited metabolic diseases affecting about 1 in 7000 to 8000 people. In recent years, the introduction of enzyme replacement therapy, substrate reduction therapy and small molecule therapy, has changed the natural course of this otherwise progressive group of disorders leading to severe morbidity and early mortality. These treatment options,...
Many lysosomal storage diseases are characterized by an increased urinary excretion of glycoconjugates and oligosaccharides that are characteristic for the underlying enzymatic defect. Here, we have used capillary high-performance anion-exchange chromatography (HPAEC) hyphenated to mass spectrometry to analyze free oligosaccharides from urine samples of patients suffering from the lysosomal sto...
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