The loss of function and abnormal expression of ataxin 1 (ATXN1) are related to the pathogenesis of a variety of diseases. Recent studies suggest that aggregation after mutation and interaction with other proteins may be part of the reason. Creative Biolabs provides one-stop ATXN1 analysis service based on optional test platforms.
ATXN1 Mutations
Type I spinocerebellar atrophy (SCA1) is a disease characterized by progressive movement problems caused by a mutation in the ATXN1 gene and is usually inherited in an autosomal dominant pattern. SCA1 involves a section of DNA called a CAG trinucleotide repeat, and normally the CAG region repeats between four and 39 times within the gene. In patients with SCA1, the CAG portion was repeated more than 40 to 80 times.
Fig.1 Progression of ATXN1-related pathology in SCA1.1
As Fig.1 shown, wild-type ATXN1 forms a transcriptional inhibition complex with CIC and binds to DNA. Under pathological conditions, ATXN1 accumulation of polyglutamine amplification can directly from nuclear inclusion bodies or adopt oligomeric conformation.
Correlation Research
In addition to ATXN1 related studies, which mainly focus on SCA1, ATXN1 also has some signaling pathways, pathogenesis of other diseases and complex function studies, including:
Differences in histological staining of the fusion gene ATXN-NUTM1 have been found in brain cancer and have an influence on prognosis.
ATXN1 is involved in the tumorigenesis of cervical cancer cells through the EGFR-RAS-MAPK signaling pathway. ATXN1 binds to the promoter region within cyclin D1, activates cyclin D1 transcription, and leads to the proliferation of tumor cells, which can be used as one of the prognostic markers of cervical cancer.
ATXN1 is involved in the tumorigenesis of cervical cancer cells through the EGFR-RAS-MAPK signaling pathway. ATXN1 binds to the promoter region within cyclin D1, activates cyclin D1 transcription, and leads to the proliferation of tumor cells, which can be used as one of the prognostic markers of cervical cancer.
Loss of ATXN1 function is associated with cancer development and the pathogenesis of Alzheimer's disease (AD). And ATXN1 has recently been proposed as a susceptibility site for multiple sclerosis (MS).
Services Provided by Creative Biolabs
One of the theories on the pathogenesis of SCA1 is that the expanded glutamine channel causes toxicity by regulating the normal activity of ATXN1. However, the pathogenic mechanism of other ATXN1 related diseases in humans is not fully understood, and it is still important to study its function. Our services can be customized to suit the specific needs of our clients, popular analysis services targeting ATXN1 include but not limited to the following:
| Cat | Service |
|---|---|
| BAS121-1 | ATXN1 Antibody Development |
| BAS121-2 | ATXN1 PCR Assay |
| BAS121-3 | ATXN1 Immunofluorescence Assay |
| BAS121-4 | ATXN1 Protein Expression |
| BAS121-5 | ATXN1 Recombinant Mutants Protein Expression |
| BAS121-6 | ATXN1 Western Blot Assay |
| BAS121-7 | ATXN1-KO Cell Line Construction |
| BAS121-8 | ATXN1 Sequence Assay |
| BAS121-9 | ATXN1 Immunohistochemistry Staining Assay |
| BAS121-10 | ATXN1 Mouse Models Behavioral Assay |
| BAS121-11 | ATXN1 Complex Analysis |
| BAS121-12 | ATXN1 Cell Toxicity Assay |
| BAS121-13 | ATXN1 Oligomers Stability Assay |
We are committed to providing the highest quality of custom services and products at the most reasonable prices. Please feel free to contact us for more information and a formal quote.
Reference
- Lasagna-Reeves, Cristian A., et al. "A native interactor scaffolds and stabilizes toxic ATAXIN-1 oligomers in SCA1." Elife 4 (2015): e07558. Distributed under CC BY-SA 4.0, without modification.
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