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The New England journal of medicine, ISSN 1533-4406, 10/2009, Volume 361, Issue 18, pp. 1760 - 1767
Journal Article
Trends in Molecular Medicine, ISSN 1471-4914, 2011, Volume 17, Issue 12, pp. 707 - 713
... receptor 2-related hemochromatosis. Deficiency of ferroportin, the only known cellular protein iron exporter, produces iron overload in the typical form of ferroportin disease... 
Pathology | Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Cell Biology | Research & Experimental Medicine | Genetic Testing | Anemia, Iron-Deficiency - physiopathology | Hemochromatosis Protein | Humans | Hemochromatosis - blood | Receptors, Transferrin | Anemia, Iron-Deficiency - blood | Membrane Proteins - deficiency | Genes, Dominant | Hepcidins | Serine Endopeptidases - genetics | Cation Transport Proteins - genetics | Antimicrobial Cationic Peptides - blood | Cation Transport Proteins - deficiency | Hemochromatosis - genetics | Serine Endopeptidases - deficiency | Signal Transduction | Membrane Proteins - genetics | Rats | Histocompatibility Antigens Class I - genetics | Genes, Recessive | Iron - metabolism | Magnetic Resonance Imaging | Animals | Homeostasis - physiology | Anemia, Iron-Deficiency - diagnosis | Anemia, Iron-Deficiency - genetics | Mice | Hemochromatosis - diagnosis | Mutation | GPI-Linked Proteins - genetics | Hemochromatosis - physiopathology | Genetic research | Cellular proteins | Transferrin | Hemochromatosis | Molecular modelling | Nutrient deficiency | Reviews | Computed tomography | Anemia | Homeostasis | Iron | Hepcidin | Transferrin receptors | Index Medicus | GPI-Linked Proteins | Histocompatibility Antigens Class I | Life Sciences | Serine Endopeptidases | Hépatology and Gastroenterology | Antimicrobial Cationic Peptides | Anemia, Iron-Deficiency | Membrane Proteins | Human health and pathology | Transcription Factors | Cation Transport Proteins
Journal Article
Journal of allergy and clinical immunology, ISSN 0091-6749, 12/2009, Volume 124, Issue 6, pp. 1311 - 1318.e7
...) 1 and 2, as well as mRNA and protein expression analysis of ORAI1 in immunodeficient patients... 
Allergy and Immunology | calcium channel | store-operated Ca | signal transduction | anhydrotic ectodermal dysplasia | T cells | CRAC | amelogenesis imperfecta | dental enamel | entry | STIM1 | ORAI1 | immunodeficiency | congenital myopathy | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Immunologic Deficiency Syndromes - pathology | Cell Adhesion Molecules - genetics | Frameshift Mutation | Calcium Channels - metabolism | Calcium - metabolism | Humans | Mutation, Missense | Neoplasm Proteins - metabolism | Ectodermal Dysplasia - metabolism | Transfection | Ectodermal Dysplasia - pathology | Membrane Proteins - metabolism | Neoplasm Proteins - genetics | Calcium Channels - genetics | Stromal Interaction Molecule 1 | ORAI2 Protein | Membrane Proteins - genetics | Muscular Diseases - metabolism | Stromal Interaction Molecule 2 | Muscular Diseases - pathology | Cell Adhesion Molecules - metabolism | ORAI1 Protein | Homozygote | Immunologic Deficiency Syndromes - genetics | Immunologic Deficiency Syndromes - metabolism | Ectodermal Dysplasia - genetics | Muscular Diseases - genetics | Calcium Channels - deficiency | Proteins | Cytomegalovirus | Cell growth | Plasmids | Lymphocytes | Cloning | Protein expression | Mutation | Gene expression | Patients | Age | Deoxyribonucleic acid--DNA | Index Medicus | Abridged Index Medicus | Ca2 | store-operated Ca2+ entry
Journal Article
Proceedings of the National Academy of Sciences - PNAS, ISSN 0027-8424, 8/2015, Volume 112, Issue 34, pp. 10685 - 10690
.... Here we characterized mechanisms that allow yeast cells to survive under conditions of thiol peroxidase deficiency. Two independent... 
Oxidative stress | Aneuploidy | Respiration | Thiol peroxidase | Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Reactive Oxygen Species - metabolism | Saccharomyces cerevisiae - drug effects | Mitochondrial Proteins - genetics | Antimycin A - pharmacology | Heat-Shock Proteins - genetics | Oligomycins - pharmacology | Adaptation, Physiological - genetics | Membrane Proteins - physiology | Gene Deletion | Peroxidases - deficiency | Rotenone - pharmacology | Genes, Fungal | Electron Transport - physiology | Chromosome Deletion | Saccharomyces cerevisiae - physiology | Membrane Proteins - genetics | Mitochondrial Proteins - physiology | Cytochrome-c Peroxidase - physiology | Gene Dosage | Saccharomyces cerevisiae Proteins - genetics | Hydrogen Peroxide - metabolism | Cytochrome-c Peroxidase - genetics | Chromosomes, Fungal - genetics | Oxidoreductases Acting on Sulfur Group Donors - physiology | Oxidoreductases Acting on Sulfur Group Donors - genetics | Saccharomyces cerevisiae - enzymology | Saccharomyces cerevisiae Proteins - physiology | Peroxidases - genetics | Heat-Shock Proteins - physiology | Genetic aspects | Peroxidase | Properties | Identification and classification | Index Medicus | Adaptation, Physiological | Chromosomes, Fungal | Electron Transport | Reactive Oxygen Species | Hydrogen Peroxide | Mitochondrial Proteins | Oligomycins | Rotenone | Cytochrome-c Peroxidase | Membrane Proteins | Life Sciences | Peroxidases | Saccharomyces cerevisiae Proteins | Heat-Shock Proteins | Antimycin A | Oxidoreductases Acting on Sulfur Group Donors | Saccharomyces cerevisiae | aneuploidy | Biological Sciences | thiol peroxidase | respiration | oxidative stress
Journal Article
Cell metabolism, ISSN 1550-4131, 07/2011, Volume 14, Issue 1, pp. 80 - 90
Journal Article
PLoS genetics, ISSN 1553-7404, 04/2018, Volume 14, Issue 4, pp. e1007363 - e1007363
.... Mutations in subunits of the heterotetrameric (ε-β4-μ4-σ4) adaptor protein 4 (AP-4) complex cause an autosomal recessive form of complicated HSP re 
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Receptors, Glutamate - metabolism | Spastic Paraplegia, Hereditary - genetics | Spinal Cord - metabolism | Vesicular Transport Proteins - metabolism | Humans | Adaptor Protein Complex 4 - chemistry | Male | Adaptor Protein Complex 4 - genetics | Spastic Paraplegia, Hereditary - metabolism | Brain - metabolism | trans-Golgi Network - metabolism | Protein Aggregates - genetics | Spinal Cord - pathology | Adaptor Protein Complex 4 - deficiency | Female | Membrane Proteins - metabolism | Neurons - metabolism | Spastic Paraplegia, Hereditary - pathology | Protein Aggregation, Pathological - genetics | Disease Models, Animal | Adaptor Protein Complex Subunits - deficiency | Huntingtin Protein - metabolism | Mice, Inbred C57BL | Axons - metabolism | Behavior, Animal - physiology | Adaptor Protein Complex Subunits - chemistry | Huntingtin Protein - chemistry | Mice, Knockout | Animals | Brain - pathology | Mice | Huntingtin Protein - genetics | Mutation | Autophagy-Related Proteins - metabolism | Adaptor Protein Complex Subunits - genetics | Protein Aggregation, Pathological - metabolism | Development and progression | Genetic aspects | Diagnosis | Paralysis, Spastic | Spinal cord | Neurosciences | Huntingtin | Funding | Intellectual disabilities | Genes | Neurobiology | Childrens health | Biology | Microcephaly | Autophagy | Proteins | Fibroblasts | Paralysis | Seizures | Phenotypes | Language disorders | Neurons | Spasticity | Corpus callosum | Golgi apparatus | Axons | Microencephaly | Skin | Dystrophy | Phagocytosis | Cytoplasm | Index Medicus
Journal Article
Nature communications, ISSN 2041-1723, 11/2018, Volume 9, Issue 1, pp. 5110 - 13
.... Here we propose that miR-224/-520c-dependent TUSC3 deficiency enhances the metastatic potential of NSCLC through the alteration of three unfolded protein response pathways and HRD1-dependent ERAD... 
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Endoribonucleases - genetics | Humans | Lung Neoplasms - metabolism | Lung Neoplasms - pathology | MicroRNAs - metabolism | Activating Transcription Factor 6 - genetics | Tumor Suppressor Protein p53 - genetics | In Situ Hybridization | Tumor Suppressor Proteins - genetics | Membrane Proteins - metabolism | Gene Expression Regulation, Neoplastic - physiology | Gene Expression Regulation, Neoplastic - genetics | Carcinoma, Non-Small-Cell Lung - pathology | Lung Neoplasms - genetics | Cell Proliferation - genetics | Tumor Suppressor Proteins - metabolism | Endoribonucleases - metabolism | Unfolded Protein Response - genetics | Carcinoma, Non-Small-Cell Lung - genetics | Membrane Proteins - genetics | Endoplasmic Reticulum-Associated Degradation - genetics | Carcinoma, Non-Small-Cell Lung - metabolism | Cell Proliferation - physiology | Tumor Suppressor Protein p53 - metabolism | Ubiquitin-Protein Ligases - metabolism | Signal Transduction - genetics | Reverse Transcriptase Polymerase Chain Reaction | Xenograft Model Antitumor Assays | Activating Transcription Factor 6 - metabolism | Animals | Endoplasmic Reticulum-Associated Degradation - physiology | Cell Line, Tumor | Signal Transduction - physiology | Mice | Ubiquitin-Protein Ligases - genetics | Unfolded Protein Response - physiology | Small cell lung carcinoma | p53 Protein | Lung cancer | Non-small cell lung carcinoma | Lung carcinoma | Metastasis | Substrates | Metastases | Proteins | Protein folding | Chromosome 8 | Tumor suppressor genes | miRNA | Solid tumors | Tumors | Cancer | Index Medicus
Journal Article
Nature (London), ISSN 1476-4687, 03/2019, Volume 567, Issue 7747, pp. 262 - 266
...). Upon binding DNA, cGAS produces cGAMP that binds to and activates the adaptor protein STING, which then activates the kinases IKK and TBK1 to induce interferons and other cytokines(2-6... 
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Nucleotides, Cyclic - metabolism | Interferons - biosynthesis | Beclin-1 - deficiency | Vesicular Transport Proteins - metabolism | Humans | Endoplasmic Reticulum - metabolism | Autophagy-Related Protein 5 - genetics | Autophagy-Related Protein-1 Homolog - metabolism | DNA Viruses - metabolism | Interferons - immunology | Autophagy | DNA Viruses - genetics | Sea Anemones | Membrane Proteins - deficiency | HEK293 Cells | Membrane Proteins - metabolism | Nucleotidyltransferases - metabolism | Protein-Serine-Threonine Kinases - metabolism | Phosphate-Binding Proteins | Signal Transduction | Membrane Proteins - genetics | DNA, Viral - metabolism | Class III Phosphatidylinositol 3-Kinases - metabolism | Autophagosomes - metabolism | Cytosol - virology | Protein Transport | Carrier Proteins - genetics | Animals | Autophagy-Related Protein-1 Homolog - deficiency | Carrier Proteins - metabolism | Monomeric GTP-Binding Proteins - metabolism | Autophagy-Related Protein 5 - deficiency | Autophagy-Related Protein 5 - metabolism | Beclin-1 - genetics | Golgi Apparatus - metabolism | Mice | Beclin-1 - metabolism | Autophagy-Related Protein-1 Homolog - genetics | Nucleotides, Cyclic - immunology | Evolution, Molecular | Biological research | Autophagy (Cytology) | Enzymes | Physiological aspects | Interferon | Research | Cytoplasm | Biology, Experimental | Index Medicus
Journal Article
Journal Article