Destabilizing NF1 variants act in a dominant negative manner through neurofibromin dimerization

The majority of pathogenic mutations in the neurofibromatosis type I (NF1) gene reduce total neurofibromin protein expression through premature truncation or microdeletion, but it is less well understood how loss-of-function missense variants drive NF1 disease. We have found that patient variants in...

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Detalles Bibliográficos
Autores principales: Young, Lucy C., Goldstein de Salazar, Ruby, Han, Sae-Won, Huang, Zi Yi Stephanie, Merk, Alan, Drew, Matthew, Darling, Joseph, Wall, Vanessa, Grisshammer, Reinhard, Cheng, Alice, Allison, Madeline R., Sale, Matthew J., Nissley, Dwight V., Esposito, Dominic, Ognjenovic, Jana, McCormick, Frank
Formato: Online Artículo Texto
Lenguaje:English
Publicado: National Academy of Sciences 2023
Materias:
Biological Sciences
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9945959/
https://www.ncbi.nlm.nih.gov/pubmed/36689660
http://dx.doi.org/10.1073/pnas.2208960120

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