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.

Hirata, Yasuko; Brems, Hilde; Suzuki, Mayu; Kanamori, Mitsuhiro; Okada, Masahiro; Morita, Rimpei; Llano-Rivas, Isabel; Ose, Toyoyuki; Messiaen, Ludwine; Legius, Eric; Yoshimura, Akihiko

Hirata, Yasuko; Brems, Hilde; Suzuki, Mayu; Kanamori, Mitsuhiro; Okada, Masahiro; Morita, Rimpei; Llano-Rivas, Isabel; Ose, Toyoyuki; Messiaen, Ludwine; Legius, Eric; Yoshimura, Akihiko.

Affiliation

Hirata Y; From the Department of Microbiology and Immunology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan.
Brems H; the Department of Human Genetics, Catholic University of Leuven, 3000 Leuven, Belgium.
Suzuki M; From the Department of Microbiology and Immunology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan.
Kanamori M; From the Department of Microbiology and Immunology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan.
Okada M; From the Department of Microbiology and Immunology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan.
Morita R; From the Department of Microbiology and Immunology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan.
Llano-Rivas I; the Department of Genetics, Hospital Universitario Cruces, BioCruces Health Research Institute, Biscay, Spain.
Ose T; Department of Pharmaceutical Sciences, Hokkaido University, N12W6, Sapporo 060-0812, Japan, and.
Messiaen L; the Medical Genomics Laboratory, Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama 35294.
Legius E; the Department of Human Genetics, Catholic University of Leuven, 3000 Leuven, Belgium.
Yoshimura A; From the Department of Microbiology and Immunology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan, yoshimura@a6.keio.jp.

J Biol Chem ; 291(7): 3124-34, 2016 Feb 12.

Article in En | MEDLINE | ID: mdl-26635368

Subject(s)

Cafe-au-Lait Spots/genetics; Intracellular Signaling Peptides and Proteins/metabolism; Membrane Proteins/metabolism; Models, Molecular; Mutation, Missense; Neurofibromatosis 1/genetics; Neurofibromin 1/metabolism; Point Mutation; Adaptor Proteins, Signal Transducing; Amino Acid Transport System A; Cafe-au-Lait Spots/metabolism; Cafe-au-Lait Spots/physiopathology; Epidermal Growth Factor/metabolism; Female; Genes, Reporter; Genetic Association Studies; HEK293 Cells; Humans; Intracellular Signaling Peptides and Proteins/chemistry; Intracellular Signaling Peptides and Proteins/genetics; Kinetics; MAP Kinase Signaling System; Male; Membrane Proteins/chemistry; Membrane Proteins/genetics; Neurofibromatosis 1/metabolism; Neurofibromatosis 1/physiopathology; Neurofibromin 1/chemistry; Neurofibromin 1/genetics; Peptide Fragments/chemistry; Peptide Fragments/genetics; Peptide Fragments/metabolism; Protein Conformation; Protein Interaction Domains and Motifs; Proto-Oncogene Proteins p21(ras)/agonists; Proto-Oncogene Proteins p21(ras)/antagonists & inhibitors; Proto-Oncogene Proteins p21(ras)/genetics; Proto-Oncogene Proteins p21(ras)/metabolism; Recombinant Fusion Proteins/chemistry; Recombinant Fusion Proteins/metabolism

Key words

GTPase-activating protein (GAP); Ras protein; human genetics; mitogen-activated protein kinase (MAPK); negative regulation; protein domain; signal transduction

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Models, Molecular / Neurofibromatosis 1 / Point Mutation / Cafe-au-Lait Spots / Mutation, Missense / Neurofibromin 1 / Intracellular Signaling Peptides and Proteins / Membrane Proteins Type of study: Prognostic_studies Language: En Journal: J Biol Chem Year: 2016 Type: Article Affiliation country: Japan

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