Article
Destabilizing NF1 variants act in a dominant negative manner through neurofibromin dimerization.
Proceedings of the National Academy of Sciences of the United States of America - 31 Jan 2023
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
Abstract excerpt
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 codons 844 to 848, which correlate with a severe phenotype, cause protein instability and exert an additional...
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