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- Table of Contents
Facts about Lysosomal acid glucosylceramidase.
Human | |
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Gene Name: | GBA |
Uniprot: | P04062 |
Entrez: | 2629 |
Belongs to: |
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glycosyl hydrolase 30 family |
Acid beta-glucosidase; Alglucerase; beta-glucocerebrosidase; D-glucosyl-N-acylsphingosine glucohydrolase; EC 3.2.1.45; GBA; GBA1; GC; GCB; GLUC; glucosidase, beta, acid; glucosidase, beta; acid (includes glucosylceramidase); Glucosylceramidase; Imiglucerase; lysosomal glucocerebrosidase
Mass (kDA):
59.716 kDA
Human | |
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Location: | 1q22 |
Sequence: | 1; NC_000001.11 (155234452..155244627, complement) |
Lysosome membrane; Peripheral membrane protein; Lumenal side. Interaction with saposin-C promotes membrane association (PubMed:10781797). Targeting to lysosomes occurs through an alternative MPR-independent mechanism via SCARB2 (PubMed:18022370).
The study on tissues is as old a science as man. Technology has made it easier to study them. Boster Bio, a specialist in antibody supplementation research and immune system research, uses the most advanced technology for the analysis and manufacturing of data from people's laboratory tests and Immunohistochemistry analyses. As an expert in antibody supplements and immunohistochemistry, Boster Bio knows all about the human immune system and what the body needs.
The most important question for patients with this condition is, "What is the best way to treat it?" Many patients with GBA disease have an inherited susceptibility to developing synucleinopathies. The answer to that question is simple - it depends on the type of a-synuclein mutation. There are a number of treatments available for GBA disease, including drugs, biologics, and even gene therapy.
Boster Bio is an antibody manufacturer specializing in the field of pathology. Its services focus on immunohistochemistry, an in-depth analysis of cell tissues. Boster Bio offers a wide range of antibodies, from antibodies for one tumor to antibodies that can be used on multiple targets. Multiplex IHC services from Boster Bio are cost-effective, quick and easy to process. Data is also archived in record time. You can find out more about Boster Bio's Multiplex Immunohistochemistry Services here.
A key challenge for GBA-related therapies is the lack of biomarkers for biological activity. Although intravenous administration can lead to significant reductions and even complete elimination of enzyme activity and a-synuclein protein levels, this is not possible. In addition, a therapeutic effect requires the inhibition of specific pathways within the central nervous system. Here we review some of the challenges that remain. These challenges could also open up new therapeutic avenues for GBA-related therapies.
GBA carriers' rigidity score increased more quickly than non-carriers. GBA polymorphism carrier had a higher rigidity score. This suggests that GBA patients are more prone to disease progression. GBA variant carrier have a higher prevalence than non-carriers of dementia. While further research is needed to address these issues, early clinical trials will provide a solid foundation for the development and testing of novel therapies for GBA.
Some research has shown that ER stress can be caused by a-synuclein aggregation in GBA mutation models. Moreover, ER Stress may be a result a-synuclein aggregation. Ceramide metabolism is actually regulated by the genes that control these diseases. These challenges are essential to the development and implementation of successful treatments for GBA related disorders.
Although there are numerous challenges, researchers have identified several genetic variants that regulate GBA expression in different parts of the brain. These variants were found in several chromosomes. Researchers found four variants with increased GBA expression in cortex, and two variants with decreased expression in substantia.nigra. They are now looking for ways to target genetic variations and develop therapies for these conditions.
It takes many participants and long periods of time to develop a clinical trial to test a potential treatment for GBA related diseases. The genetic subgroup model for clinical trials has been proven more efficient and more effective than the traditional approach. To test the effectiveness and efficiency of the GBA-PD genetic subgroup model, a simulated randomized placebocontrolled trial was conducted. It involved recruiting all newly diagnosed patients suffering from PD and those with a higher risk of developing motor impaired.
GBA mutations have not been examined in PD patients, but there are fewer studies. Despite increasing knowledge, most studies only looked at mutations in genes that are known to be associated with PD. These two mutations account for 70% to 80%, respectively, of the GBA mutations that have been identified in certain populations. One study from Colombia found a significant rise of K198E variants among PD patients. This genetic variant may also be associated with GD.
The researchers conducted a multicenter study that looked at 1893 Parkinson's sufferers. One hundred and eighty-eight had a GBA variant, 117 had a gene variant associated with the condition, and 28 had an unidentified GBA mutation. This study also revealed that motor disease severity is affected by genetic subgroups. As a result, a better understanding of the progression of PD in these genetic subgroups could help improve clinical trials.
While conventional immunohistochemistry has long been the standard diagnostic technique in tissue pathology, it has recently shifted to multiplex immunohistochemistry. Multiplex immunolabeling (or immunofluorescence) allows the simultaneous detection of multiple markers in a single tissue section. This allows complete study of the cell structure of a cancerous tumor. Multiplex immunohistochemistry has several advantages over conventional immunohistochemistry.
The technique is compatible with multiplex immunohistochemistry. This technique can detect multiple tissue markers simultaneously, which is its primary benefit. The detection of markers of proliferation and autophagy may help in epithelial turnover. It is also possible to profile immune checkpoint protein profiles and identify tumor microenvironment. Multiplex immunohistochemistry's applications are broad and can be used for clinical or translational purposes. Bethyl offers multiplexing panels to help you achieve your goals.
The mIHC/IF protocol has been optimized for translational research as well as future clinical applications. Reproducibility is important. The mIHC/IF procedure needs to be repeated every 2 antibody cycles. This can lead a significant delay. Multiplex staining can also be automated with PerkinElmer, Inc. Opal 4-color and seven-color automation IHC kit compatible with the Leica Biosystems BOND RX software version 4.0. The BOND RX is located in Wetzlar Germany.
The N370S GBA variant is known to increase the risk of developing PD. GBA mutations increase the amount of a–synuclein. However, the post-translational modifications to a-synucleine in patients with PD with this mutation are different. Moreover, a-synuclein levels have been linked to cognitive decline in PD and alpha-synucleinopathies.
PMID: 3864160 by Sorge J., et al. Molecular cloning and nucleotide sequence of human glucocerebrosidase cDNA.
PMID: 3001061 by Tsuji S., et al. Nucleotide sequence of cDNA containing the complete coding sequence for human lysosomal glucocerebrosidase.