The anatomy and cell biology of peripheral myelin protein-22
| Autor: | Andrew Fraser, Wayel Orfali, Joshua Colby, Kathleen M. Dickson, G. Jackson Snipes |
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| Rok vydání: | 1999 |
| Předmět: |
Genetics
General Neuroscience Biology Phenotype General Biochemistry Genetics and Molecular Biology Cell biology Mice Mice Neurologic Mutants Gain of function History and Philosophy of Science Charcot-Marie-Tooth Disease Peripheral myelin protein 22 Animals Humans Allele Function (biology) Myelin Proteins |
| Zdroj: | Annals of the New York Academy of Sciences. 883 |
| ISSN: | 0077-8923 |
| Popis: | The gain of function phenotypes exhibited by the heterozygous Tr, Tr-J, and CMT1A mutations indicate that these mutations interfere with more than the function of a single PMP22 allele. The identification of proteins that interact with PMP22 and that are sensitive both to stoichiometry and the effects of the mutations could provide important leads to a unified hypothesis to explain the riddle of the PMP22-related neuropathies. |
| Databáze: | OpenAIRE |
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