Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1

Constitutional heterozygous loss-of-function mutations in the SPRED1 gene cause a phenotype known as Legius syndrome, which consists of symptoms of multiple café-au-lait macules, axillary freckling, learning disabilities, and macrocephaly. Legius syndrome resembles a mild neurofibromatosis type 1 (N...

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Dettagli Bibliografici
Pubblicato in:J Biol Chem
Autori principali: Hirata, Yasuko, Brems, Hilde, Suzuki, Mayu, Kanamori, Mitsuhiro, Okada, Masahiro, Morita, Rimpei, Llano-Rivas, Isabel, Ose, Toyoyuki, Messiaen, Ludwine, Legius, Eric, Yoshimura, Akihiko
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society for Biochemistry and Molecular Biology 2016
Soggetti:
Molecular Bases of Disease
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4751360/
https://ncbi.nlm.nih.gov/pubmed/26635368
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M115.703710
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