Von Recklinghausen Disease
Von Recklinghausen disease, also known as neurofibromatosis type 1 (NF1), is a complex and rare genetic disorder that primarily affects the nervous system, causing tumors to grow on nerves and other tissues. Our company specializes in rare disease research and offers comprehensive support for von Recklinghausen disease research at all stages.
Overview of Von Recklinghausen Disease
Von Recklinghausen disease is a genetic tumor predisposition syndrome. The symptoms of von Recklinghausen disease include the development of neurofibromas, which are benign tumors that grow along nerves and can lead to various issues such as pain, numbness, weakness, and disfigurement. Additionally, individuals with von Recklinghausen disease may experience café-au-lait spots, lisch nodules, and skeletal abnormalities.
Fig.1 Domain architecture of neurofibromin. (Scheer, M., et al., 2021)Pathogenesis of Von Recklinghausen Disease
The pathogenesis of von Recklinghausen disease is the mutations in the NF1 gene located on chromosome 17q11.2. This gene is responsible for producing a protein that helps regulate cell growth. Mutations in the NF1 gene result in the down-regulation of neurofibromin protein expression, leading to the excessive activation of the Ras/MAPK signaling pathway. This dysregulation causes Schwann cells to proliferate excessively, forming neurofibromas.
Fig.2 Schwann cell lineage shift and contributing factors in neurofibroma progression. (Ge, L. L., et al., 2022)Therapeutics of Von Recklinghausen Disease
Small Molecule Drugs Therapy
Monoclonal Antibodies Therapy
Other Therapy
Our Services
Our company has the latest technologies and expertise, which enable us to provide exceptional service across the board for your research of von Recklinghausen disease, such as animal models and therapeutic development platforms.
Therapy Development Platforms
Animal Models of Von Recklinghausen Disease
Animal models are used in research to study diseases and test potential therapeutic interventions. Our company can provide a variety of genetic engineering animal models of von Recklinghausen disease, to help researchers gain insights into the pathogenesis of von Recklinghausen disease and test potential therapies.
| Genetically Engineered Models | ||
| One commonly used animal model for von Recklinghausen disease is the NF1 genetically engineered model, which uses transgenic or gene editing technology to exhibit characteristics similar to those seen in human NF1 individuals. | ||
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| Optional Species | Mice, Rats, Pigs, Non-Human Primates, Others | |
Our team of industry experts brings years of experience and a robust infrastructure to meet your research needs. We can provide you with services at any research stage, including pharmacokinetics analysis and drug safety evaluation, to support the advancement of von Recklinghausen disease research and therapeutic development.
If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
References
- Ge, Ling-Ling et al. "Neurofibroma Development in Neurofibromatosis Type 1: Insights from Cellular Origin and Schwann Cell Lineage Development." Cancers 14.18 (2022): 4513.
- Staedtke, Verena et al. "Existing and Developing Preclinical Models for Neurofibromatosis Type 1-Related Cutaneous Neurofibromas." The Journal of investigative dermatology 143.8 (2023): 1378-1387.
- Scheer, Maximilian et al. "Neurofibromatosis Type 1 Gene Alterations Define Specific Features of a Subset of Glioblastomas." International journal of molecular sciences 23.1 (2021): 352.
All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.