Posttranslational regulation of neurofibromin content in melanocytes of neurofibromatosis type 1 patients
| العنوان: | Posttranslational regulation of neurofibromin content in melanocytes of neurofibromatosis type 1 patients |
|---|---|
| المؤلفون: | Ralf Müller, Sven Hoffmeyer, Dieter Kaufmann, Britta Bartelt |
| المصدر: | Archives of Dermatological Research. 291:312-317 |
| بيانات النشر: | Springer Science and Business Media LLC, 1999. |
| سنة النشر: | 1999 |
| مصطلحات موضوعية: | Adult, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Neurofibromatosis 1, Adolescent, Protein Prenylation, Dermatology, Melanocyte, chemistry.chemical_compound, Germline mutation, Reference Values, Internal medicine, medicine, Humans, Post-translational regulation, RNA, Messenger, Neurofibromatosis, Child, Gene, Cells, Cultured, Messenger RNA, Neurofibromin 1, biology, business.industry, Proteins, Cell Differentiation, General Medicine, medicine.disease, nervous system diseases, medicine.anatomical_structure, Endocrinology, chemistry, Phorbol, biology.protein, Cancer research, Melanocytes, Tetradecanoylphorbol Acetate, business, Protein Processing, Post-Translational, Half-Life |
| الوصف: | Neurofibromatosis type 1 (NF1) is a common autosomal dominantly inherited disorder characterized by neurofibromas and café-au-lait macules. Most of the NF1 gene germline mutations result in a reduction in the level of neurofibromin. As shown recently, the neurofibromin level can be regulated posttranslationally through alteration of the protein half-life. This raises the question as to whether this type of regulation is also operating in cultured melanocytes of NF1 patients especially in melanocytes derived from café-au-lait macules. In melanocytes cultured without phorbol 12-myristate 13-acetate (PMA) the neurofibromin half-lives were 24 h (healthy controls, MC), 26 h (apparently healthy skin of NF1 patients, MNFS) and 25 h (café-au-lait macules of NF1 patients, MNFC). In PMA-stimulated cells the neurofibromin half-lives were 68 h (MC) and 73 h (MNFS) whereas it was 45 h in melanocytes derived from NF1 café-au-lait macules. The amount of NF1 mRNA was not altered under these culture conditions as shown by competitive RT-PCR. We speculate that this regulation is involved in the formation of some NF1 symptoms, for instance in the formation of café-au-lait macules. |
| تدمد: | 1432-069X 0340-3696 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f39a751c70ee30d8d5706d97b6bb9f5bTest https://doi.org/10.1007/s004030050415Test |
| حقوق: | CLOSED |
| رقم الانضمام: | edsair.doi.dedup.....f39a751c70ee30d8d5706d97b6bb9f5b |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 1432069X 03403696 |
|---|