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PLoS pathogens, ISSN 1553-7374, 2013, Volume 9, Issue 11, p. e1003773
... with the mitochondrial adaptor protein MAVS (also known as IPS-1, CARDIF and VISA) and initiates a signalling cascade that culminates in the activation of the transcriptional... 
CELLS | DEFENSE | VIRUS-INFECTION | DISTINCT | RIG-I | MICROBIOLOGY | IRF-7 | ANTIVIRAL RESPONSE | VIROLOGY | GENE | SIGNALING PATHWAY | ADAPTER PROTEIN | PARASITOLOGY | Epithelial Cells - metabolism | Influenza A virus - genetics | Respiratory Mucosa - virology | Interferon Regulatory Factor-7 - genetics | Interferon Type I - immunology | Interferon Regulatory Factor-3 - genetics | Interleukins - metabolism | Orthomyxoviridae Infections - genetics | Respiratory Mucosa - pathology | Interleukins - genetics | Interleukins - immunology | Respiratory Mucosa - immunology | Adaptor Proteins, Signal Transducing - immunology | Interferon Type I - metabolism | Influenza A virus - immunology | Membrane Proteins - metabolism | Interferon Regulatory Factor-3 - immunology | Nerve Tissue Proteins - immunology | Membrane Proteins - genetics | Orthomyxoviridae Infections - metabolism | Epithelial Cells - pathology | Membrane Proteins - immunology | Interferon Regulatory Factor-7 - immunology | Interferon Regulatory Factor-7 - metabolism | Nerve Tissue Proteins - genetics | Mice, Knockout | Nerve Tissue Proteins - metabolism | Animals | Influenza A virus - metabolism | Epithelial Cells - immunology | Epithelial Cells - virology | Adaptor Proteins, Signal Transducing - genetics | Interferon Regulatory Factor-3 - metabolism | Interferon Type I - genetics | Mice | Respiratory Mucosa - metabolism | Adaptor Proteins, Signal Transducing - metabolism | Orthomyxoviridae Infections - immunology | Epithelial cells | Influenza | Physiological aspects | Host-parasite relationships | Interferon | Genetic aspects | Genetic transcription | Research | Health aspects | Airway (Medicine) | Interleukins/metabolism | Nerve Tissue Proteins/immunology | Orthomyxoviridae Infections/genetics | Orthomyxoviridae Infections/metabolism | Membrane Proteins/genetics | Adaptor Proteins, Signal Transducing/genetics | Interferon Regulatory Factor-7/genetics | Interleukins/immunology | Membrane Proteins/immunology | Life Sciences | Orthomyxoviridae Infections/immunology | Influenza A virus/genetics | Nerve Tissue Proteins/metabolism | Respiratory Mucosa/immunology | Immunology | Interferon Type I/immunology | Epithelial Cells/immunology | Epithelial Cells/virology | Interferon Regulatory Factor-7/immunology | Epithelial Cells/metabolism | Interferon Regulatory Factor-3/immunology | Respiratory Mucosa/pathology | Influenza A virus/immunology | Interleukins/genetics | Interferon Regulatory Factor-3/genetics | Influenza A virus/metabolism | Adaptor Proteins, Signal Transducing/metabolism | Epithelial Cells/pathology | Adaptor Proteins, Signal Transducing/immunology | Interferon Type I/genetics | Interferon Regulatory Factor-3/metabolism | Membrane Proteins/metabolism | Nerve Tissue Proteins/genetics | Interferon Regulatory Factor-7/metabolism | Interferon Type I/metabolism | Respiratory Mucosa/metabolism | Respiratory Mucosa/virology | Cytokines | Genes | Rodents | Genomics | Genomes | Kinases | Experiments | Viral infections
Journal Article
PLoS pathogens, ISSN 1553-7374, 2018, Volume 14, Issue 8, p. e1007264
.... Surprisingly, using the infected cell protein 0 (ICP0)-deleted HSV1 (HSV1-dICP0), we found that asTORi markedly augment infection in cancer cells and a mouse mammary cancer xenograft... 
RAPAMYCIN | IMMUNE-RESPONSE | MESSENGER-RNA TRANSLATION | MYXOMA-VIRUS | ACTIVATION | INITIATION | ONCOLYTIC VIROTHERAPY | MICROBIOLOGY | RESISTANT | HERPES-SIMPLEX-VIRUS | INTERFERON | VIROLOGY | PARASITOLOGY | Catalytic Domain - drug effects | Humans | Cercopithecus aethiops | Eukaryotic Initiation Factor-4E - metabolism | Phosphoproteins - metabolism | Herpes Simplex - genetics | TOR Serine-Threonine Kinases - antagonists & inhibitors | Neoplasms - complications | Neoplasms - virology | Neoplasms - genetics | HEK293 Cells | Immediate-Early Proteins - deficiency | Gene Expression Regulation, Neoplastic - drug effects | Organisms, Genetically Modified | Eukaryotic Initiation Factor-4E - genetics | Vero Cells | Cells, Cultured | Signal Transduction - genetics | Phosphoproteins - genetics | Herpesvirus 1, Human - drug effects | Animals | Immediate-Early Proteins - genetics | TOR Serine-Threonine Kinases - chemistry | Herpes Simplex - pathology | Adaptor Proteins, Signal Transducing - genetics | Ubiquitin-Protein Ligases - deficiency | Herpes Simplex - complications | Herpesvirus 1, Human - genetics | Mice | Protein Kinase Inhibitors - pharmacology | Adaptor Proteins, Signal Transducing - metabolism | Neoplasms - pathology | Ubiquitin-Protein Ligases - genetics | Physiological aspects | Genetic aspects | Research | Genetic regulation | Herpes simplex virus | Cancer cells | TOR protein | Transplants & implants | Funding | Xenotransplantation | Herpes simplex | Viruses | Genomes | mRNA | Infections | Biochemistry | Kinases | Proteins | Immunology | Repressors | Transformed cells | Immunotherapy | Xenografts | Oncolysis | Inhibition | Supervision | Medical research | Protein biosynthesis | Rapamycin | Pharmacology | Children & youth | Infectious diseases | Inhibitors | Protein synthesis | Herpes viruses | Replication | Initiation factor eIF-4E | Tumors | Cancer | TOR Serine-Threonine Kinases/antagonists & inhibitiors | Herpes Simplex/genetics | Herpes Simplex/pathology | Neoplasms/pathology | Eukaryotic Initiation Factor-4E/genetics | Ubiquitin-Protein Ligases/deficiency | Immediate-Early Proteins/genetics | Neoplasms/genetics | Herpes Simplex/complications | Life Sciences | Eukaryotic Initiation Factor-4E/metabolism | Neoplasms/complications | Herpesvirus 1, Human/genetics | Catalytic Domain/drug effects | Signal Transduction/genetics | Adaptator Proteins, Signal Transducing/genetics | Gene Expression Regulation, Neoplastic/drug effects | Phosphoproteins/genetics | Adaptator Proteins, Signal Transducing/metabolism | Immediate-Early Proteins/deficiency | Phosphoproteins/metabolims | TOR Serine-Threonine Kinases/chemistry | Protein Kinase Inhibitors/pharmacology | Herpesvirus 1, Human/drug effects | Ubiquitin-Protein Ligases/genetics | Neoplasms/virology
Journal Article
Nature (London), ISSN 1476-4687, 2012, Volume 489, Issue 7415, pp. 313 - 317
Cornelia de Lange syndrome (CdLS) is a dominantly inherited congenital malformation disorder, caused by mutations in the cohesin-loading protein NIPBL1,2 for nearly 60... 
SISTER-CHROMATID COHESION | NIPPED-B | COMPLEX | NIPBL | HUMAN GENOME | RNA-SEQ | MULTIDISCIPLINARY SCIENCES | X-CHROMOSOME-INACTIVATION | S-PHASE | PROTEINS | BINDING | Chromatin - metabolism | Chondroitin Sulfate Proteoglycans - chemistry | Humans | Crystallography, X-Ray | Male | Phosphoproteins - metabolism | Cell Cycle Proteins - chemistry | Chromatin Immunoprecipitation | Repressor Proteins - deficiency | De Lange Syndrome - metabolism | Fibroblasts | Female | Transcription, Genetic | Acetylation | Binding Sites | Repressor Proteins - metabolism | De Lange Syndrome - genetics | Repressor Proteins - chemistry | Chromosomal Proteins, Non-Histone - metabolism | Histone Deacetylases - genetics | Cell Cycle Proteins - metabolism | Chondroitin Sulfate Proteoglycans - metabolism | Histone Deacetylases - chemistry | Histone Deacetylases - deficiency | Mutant Proteins - genetics | Prophase | Models, Molecular | Repressor Proteins - genetics | Histone Deacetylases - metabolism | Mutant Proteins - metabolism | Nuclear Proteins - metabolism | Mutation - genetics | Proteins - genetics | Mutant Proteins - chemistry | Protein Conformation | HeLa Cells | Adaptor Proteins, Signal Transducing - metabolism | Anaphase | Chromatin - genetics | Chromosomal Proteins, Non-Histone - chemistry | Genetics | De Lange syndrome | Genetic aspects | Research | Mutation (Biology) | Proteins | Cell culture | Genes | Cell cycle | Mutation | Females | Chromosomes | Crystal structure | Chromatin | Repressor Proteins | Life Sciences | Phosphoproteins | Chromosomal Proteins, Non-Histone | Histone Deacetylases | De Lange Syndrome | Chondroitin Sulfate Proteoglycans | Nuclear Proteins | Mutant Proteins | Adaptor Proteins, Signal Transducing | Development Biology | Cell Cycle Proteins
Journal Article
The Journal of neuroscience, ISSN 1529-2401, 2012, Volume 32, Issue 8, pp. 2628 - 2636
...) regulates axon termination and synapse formation. To understand the mechanism of how rpm-1 functions, we have used mass spectrometry to identify RPM-1 binding proteins, and have identified RAE-1... 
REGULATOR | GENE | MAP KINASE PATHWAY | SYNAPTOGENESIS | NUCLEAR-PORE COMPLEX | NEURONS | RNA EXPORT FACTOR | C-ELEGANS | RPM-1 | NUP98 | NEUROSCIENCES | Protein Binding - genetics | Immunoprecipitation | Humans | Caenorhabditis elegans Proteins - metabolism | Molecular Sequence Data | rab GTP-Binding Proteins - genetics | Axons - physiology | Synapses - genetics | Amino Acid Sequence - genetics | Guanine Nucleotide Exchange Factors - metabolism | Mass Spectrometry | Mechanoreceptors - cytology | rab GTP-Binding Proteins - metabolism | Guanine Nucleotide Exchange Factors - genetics | Animals, Genetically Modified | F-Box Proteins - metabolism | Gene Expression Regulation - genetics | Synapses - physiology | Ubiquitin-Protein Ligases - metabolism | Nuclear Matrix-Associated Proteins - metabolism | Signal Transduction - genetics | Mutation - genetics | Nucleocytoplasmic Transport Proteins - genetics | Caenorhabditis elegans | Microscopy, Confocal | Nuclear Matrix-Associated Proteins - deficiency | Animals | Nucleocytoplasmic Transport Proteins - metabolism | Nuclear Matrix-Associated Proteins - genetics | Adaptor Proteins, Signal Transducing - genetics | Luminescent Proteins - genetics | Nucleocytoplasmic Transport Proteins - deficiency | Adaptor Proteins, Signal Transducing - metabolism | Amino Acid Motifs - genetics | Ubiquitin-Protein Ligases - genetics | Caenorhabditis elegans Proteins - genetics | F-Box Proteins - genetics
Journal Article
by Leblond, Claire S and Heinrich, Jutta and Delorme, Richard and Proepper, Christian and Betancur, Catalina and Huguet, Guillaume and Konyukh, Marina and Chaste, Pauline and Ey, Elodie and Rastam, Maria and Anckarsäter, Henrik and Nygren, Gudrun and Gillberg, I. Carina and Melke, Jonas and Toro, Roberto and Regnault, Beatrice and Fauchereau, Fabien and Mercati, Oriane and Lemière, Nathalie and Skuse, David and Poot, Martin and Holt, Richard and Monaco, Anthony P and Järvelä, Irma and Kantojärvi, Katri and Vanhala, Raija and Curran, Sarah and Collier, David A and Bolton, Patrick and Chiocchetti, Andreas and Klauck, Sabine M and Poustka, Fritz and Freitag, Christine M and Waltes, Regina and Kopp, Marnie and Duketis, Eftichia and Bacchelli, Elena and Minopoli, Fiorella and Ruta, Liliana and Battaglia, Agatino and Mazzone, Luigi and Maestrini, Elena and Sequeira, Ana F and Oliveira, Barbara and Vicente, Astrid and Oliveira, Guiomar and Pinto, Dalila and Scherer, Stephen W and Zelenika, Diana and Delepine, Marc and Lathrop, Mark and Bonneau, Dominique and Guinchat, Vincent and Devillard, Françoise and Assouline, Brigitte and Mouren, Marie-Christine and Leboyer, Marion and Gillberg, Christopher and Boeckers, Tobias M and Bourgeron, Thomas and Gillberg Neuropsychiatry Centre and Göteborgs universitet and Gothenburg University and Institutionen för neurovetenskap och fysiologi, sektionen för farmakologi and Gillbergcentrum and Sahlgrenska Academy and Sahlgrenska akademin and Institute of Neuroscience and Physiology, Department of Pharmacology
PLoS genetics, ISSN 1553-7404, 2012, Volume 8, Issue 2, p. e1002521
.... While many rare variants in synaptic proteins have been identified in patients with ASD, little is known about their effects at the synapse and their interactions with other genetic variations... 
SYNAPTIC PROTEINS | RARE DE-NOVO | MENTAL-RETARDATION | HIDDEN-MARKOV MODEL | SCAFFOLDING PROTEIN SHANK3 | GENETICS & HEREDITY | RECURRENT MICRODELETIONS | 15Q13.3 | POSTSYNAPTIC DENSITY | COPY-NUMBER VARIATION | CRITICAL REGION | Humans | Child, Preschool | Male | Neurons - cytology | Synapses - genetics | Synapses - pathology | Tissue Distribution | Protein Isoforms - metabolism | Adult | Female | Child | Cell Line | Gene Dosage - genetics | Receptors, Nicotinic - metabolism | RNA Splice Sites - genetics | Alternative Splicing - genetics | Gene Expression Regulation | Nerve Tissue Proteins - genetics | Child Development Disorders, Pervasive - genetics | Adaptor Proteins, Signal Transducing - genetics | Adaptor Proteins, Signal Transducing - metabolism | Receptors, Nicotinic - genetics | Protein Isoforms - genetics | Sequence Deletion - genetics | alpha7 Nicotinic Acetylcholine Receptor | Autism | Gene mutations | Physiological aspects | Genetic aspects | Research | Risk factors | Prevalence studies (Epidemiology) | Medical research | Genetics | Mutation | Genes | Sequence Deletion | RNA Splice Sites | Receptors, Nicotinic | Alternative Splicing | Neurons | Nerve Tissue Proteins | Gene Dosage | Life Sciences | Adaptor Proteins, Signal Transducing | Protein Isoforms | Child Development Disorders, Pervasive | Synapses | Pervasive | Cytology | Child Development Disorders | Receptors | Psykiatri | Preschool | Metabolism | Adaptor Proteins | Nicotinic | Pathology | Signal Transducing | Psychiatry
Journal Article
Journal Article
American journal of human genetics, ISSN 0002-9297, 2017, Volume 101, Issue 1, pp. 87 - 103
Journal Article
The FEBS Journal, ISSN 1742-464X, 10/2017, Volume 284, Issue 19, pp. 3218 - 3229
Bridging integrator 1 (bin1) gene is a genetic determinant of Alzheimer's disease (AD... 
SH3 domain | nuclear magnetic resonance spectroscopy | protein–protein interaction | Tau | BIN1 | Alzheimer's disease | ALZHEIMERS-DISEASE | NMR-SPECTROSCOPY | BIOCHEMISTRY & MOLECULAR BIOLOGY | PATHOLOGY | MODEL | IDENTIFIES VARIANTS | AMPHIPHYSIN | MEMBRANE CURVATURE | protein-protein interaction | BINDING | EXPRESSION | GENOME-WIDE ASSOCIATION | Adaptor Proteins, Signal Transducing - chemistry | Humans | Peptides - genetics | tau Proteins - metabolism | tau Proteins - chemistry | Peptides - metabolism | Protein Isoforms - metabolism | tau Proteins - genetics | Protein Isoforms - chemistry | Tumor Suppressor Proteins - chemistry | Tumor Suppressor Proteins - genetics | Cloning, Molecular | Escherichia coli - metabolism | Nuclear Magnetic Resonance, Biomolecular | Neurons - metabolism | Protein Interaction Domains and Motifs | Nuclear Proteins - genetics | Binding Sites | Recombinant Proteins - metabolism | Protein Conformation, alpha-Helical | Gene Expression | Tumor Suppressor Proteins - metabolism | Neurons - chemistry | Peptides - chemistry | Models, Molecular | Recombinant Proteins - chemistry | Nuclear Proteins - metabolism | Recombinant Proteins - genetics | Nuclear Proteins - chemistry | Amino Acid Motifs | Sequence Homology, Amino Acid | Sequence Alignment | Protein Conformation, beta-Strand | Escherichia coli - genetics | Adaptor Proteins, Signal Transducing - genetics | Protein Binding | Kinetics | Adaptor Proteins, Signal Transducing - metabolism | Protein Isoforms - genetics | Nuclear magnetic resonance spectroscopy | Neurons | Protein-protein interactions | Spectroscopy | Clathrin | Nuclear magnetic resonance--NMR | Peptides | Neurodegenerative diseases | Pathogenesis | Complexity | Proteins | Magnetic resonance spectroscopy | Tau protein | Spectrum analysis | Isoforms | Alzheimers disease | Binding sites | tau Proteins/metabolism | Nuclear Proteins/chemistry | Protein Isoforms/chemistry | Protein Isoforms/genetics | Adaptor Proteins, Signal Transducing/genetics | Recombinant Proteins/metabolism | Peptides/metabolism | Life Sciences | Recombinant Proteins/chemistry | Adaptor Proteins, Signal Transducing/chemistry | Nuclear Proteins/metabolism | Tumor Suppressor Proteins/chemistry | Nuclear Proteins/genetics | Tumor Suppressor Proteins/metabolism | Protein Isoforms/metabolism | Peptides/chemistry | Recombinant Proteins/genetics | Biochemistry, Molecular Biology | Escherichia coli/genetics | Escherichia coli/metabolism | Adaptor Proteins, Signal Transducing/metabolism | Neurons/chemistry | Tumor Suppressor Proteins/genetics | tau Proteins/genetics | Neurons/metabolism | Peptides/genetics | tau Proteins/chemistry
Journal Article
PLoS genetics, ISSN 1553-7404, 2011, Volume 7, Issue 3, pp. e1001324 - e1001324
Journal Article