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Nature genetics, ISSN 1061-4036, 06/2008, Volume 40, Issue 6, pp. 710 - 712
Journal Article
American journal of physiology. Lung cellular and molecular physiology, ISSN 1522-1504, 2015, Volume 308, Issue 1, pp. L33 - L47
Mutation of threonine for isoleucine at codon 73 (I73T) in the human surfactant protein C (hSP-C) gene ( SFTPC) accounts for a significant portion of SFTPC... 
Surfactant protein | Pulmonary fibrosis | Alveolar epithelium | Autophagy | Amphisome | alveolar epithelium | autophagy | amphisome | surfactant protein | pulmonary fibrosis | DOMAIN | PHYSIOLOGY | SURFACTANT PROTEIN-C | FUSION | AGGRESOME FORMATION | ENDOPLASMIC-RETICULUM STRESS | MULTIVESICULAR BODIES | RESPIRATORY SYSTEM | MUTATION | DEGRADATION | PULMONARY-FIBROSIS | Proteostasis Deficiencies - metabolism | Lung Diseases, Interstitial - metabolism | Vacuoles - ultrastructure | Lung Diseases, Interstitial - pathology | Microtubule-Associated Proteins - genetics | Sequestosome-1 Protein | Humans | Lysosomes - genetics | Genetic Diseases, Inborn - genetics | Infant | rab GTP-Binding Proteins - genetics | Genetic Diseases, Inborn - pathology | Mutation, Missense | Mitochondria - ultrastructure | Lysosomes - metabolism | ATP-Binding Cassette Transporters - genetics | Mitochondria - genetics | HEK293 Cells | ATP-Binding Cassette Transporters - metabolism | Membrane Potential, Mitochondrial - genetics | Female | Genetic Diseases, Inborn - metabolism | Microfilament Proteins - genetics | Vacuoles - genetics | Gene Expression Regulation - genetics | Proteostasis Deficiencies - pathology | Pulmonary Surfactant-Associated Protein C - metabolism | Mitochondria - metabolism | Microtubule-Associated Proteins - biosynthesis | rab GTP-Binding Proteins - biosynthesis | Ubiquitin-Protein Ligases - biosynthesis | Lysosomes - ultrastructure | Autophagy-Related Protein 8 Family | Proteostasis Deficiencies - genetics | Microfilament Proteins - biosynthesis | Lung Diseases, Interstitial - genetics | Adaptor Proteins, Signal Transducing - genetics | Pulmonary Surfactant-Associated Protein C - genetics | Vacuoles - metabolism | Adaptor Proteins, Signal Transducing - biosynthesis | Ubiquitin-Protein Ligases - genetics | Amino Acid Substitution | Autophagy (Cytology) | Usage | Genetic aspects | Epithelium | Health aspects | Lung diseases | Call for Papers
Journal Article
Human molecular genetics, ISSN 1460-2083, 2010, Volume 19, Issue 9, pp. 1828 - 1839
Journal Article
American journal of human genetics, ISSN 0002-9297, 2012, Volume 90, Issue 6, pp. 986 - 1001
Journal Article
PLoS genetics, ISSN 1553-7404, 2011, Volume 7, Issue 9, p. e1002253
Aging is characterized by the accumulation of damaged cellular macromolecules caused by declining repair and elimination pathways. An integral component... 
20S PROTEASOME | YEAST | OXIDATIVE STRESS | ENHANCES LONGEVITY | CAENORHABDITIS-ELEGANS | GENETICS & HEREDITY | GENE DISRUPTION | DEGRADATION | AUTOPHAGY | DOMAIN PROTEIN | DELETION | Saccharomyces cerevisiae - genetics | Humans | Transcriptional Activation | Ubiquitin - metabolism | Phosphatidylinositol 3-Kinases - metabolism | Silent Information Regulator Proteins, Saccharomyces cerevisiae - genetics | Sirtuin 2 - metabolism | DNA-Binding Proteins - metabolism | Gene Expression Regulation, Fungal | Saccharomyces cerevisiae - physiology | Silent Information Regulator Proteins, Saccharomyces cerevisiae - metabolism | Oxidative Stress - genetics | Ubiquitin-Protein Ligases - metabolism | Ubiquitin - genetics | Saccharomyces cerevisiae Proteins - genetics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Phosphatidylinositol 3-Kinases - genetics | Proteasome Endopeptidase Complex - genetics | Transcription Factors - metabolism | Sirtuin 2 - genetics | Saccharomyces cerevisiae Proteins - metabolism | DNA Replication - genetics | Proteasome Endopeptidase Complex - metabolism | Ubiquitin-Protein Ligases - genetics | Physiological aspects | Transcription factors | Genetic aspects | Research | Brewer's yeast | Ubiquitin-proteasome system | Protein folding | Aging | Homeostasis | Software | Experiments | Age | Cytoplasm
Journal Article
Journal of leukocyte biology, ISSN 0741-5400, 2015, Volume 97, Issue 2, pp. 425 - 433
ER stress induced autophagy and decreased GRP78 expression of T lymphocytes are involved in the pathogenesis of SLE and potentially important therapeutic... 
T cells | apoptosis | SLE | PATHWAYS | ABNORMALITIES | DEATH | MACROAUTOPHAGY | INDUCTION | IMMUNOLOGY | CELL-SURVIVAL | DEFICIENCY | CELL BIOLOGY | HEMATOLOGY | PROMOTES | EXPRESSION | RNA, Small Interfering - genetics | Transcription Factor CHOP - genetics | Endoribonucleases - genetics | Activating Transcription Factor 6 - immunology | Humans | bcl-X Protein - genetics | eIF-2 Kinase - immunology | Male | Endoplasmic Reticulum Stress - genetics | Activating Transcription Factor 6 - genetics | Endoplasmic Reticulum Stress - immunology | Autophagy - immunology | Heat-Shock Proteins - genetics | RNA, Small Interfering - immunology | Lupus Erythematosus, Systemic - immunology | Transcription Factor CHOP - immunology | bcl-X Protein - immunology | Apoptosis Regulatory Proteins - genetics | Female | Autophagy - genetics | T-Lymphocytes - pathology | bcl-2-Associated X Protein - genetics | eIF-2 Kinase - genetics | Beclin-1 | Apoptosis Regulatory Proteins - immunology | Gene Expression Regulation - genetics | Gene Expression Regulation - immunology | Membrane Proteins - genetics | Protein-Serine-Threonine Kinases - genetics | Membrane Proteins - immunology | Heat-Shock Proteins - immunology | bcl-2-Associated X Protein - immunology | Caspase 6 - genetics | Eukaryotic Initiation Factor-2 - genetics | Lupus Erythematosus, Systemic - genetics | Protein-Serine-Threonine Kinases - immunology | T-Lymphocytes - immunology | Caspase 6 - immunology | Eukaryotic Initiation Factor-2 - immunology | Lupus Erythematosus, Systemic - pathology | Endoribonucleases - immunology
Journal Article
Molecular cell, ISSN 1097-2765, 2016, Volume 63, Issue 5, pp. 781 - 795
Mutations in the human autophagy gene EPG5 cause the multisystem disorder Vici syndrome. Here we demonstrated that EPG5 is a Rab7 effector that determines the... 
RAB effector | LC3 | autophagosome maturation | epg-5 | SNARE | MEMBRANE-FUSION | LYSOSOME FUSION | BIOCHEMISTRY & MOLECULAR BIOLOGY | MACHINERY | MECHANISMS | SYNTAXIN 17 | MATURATION | VESICLE | C. ELEGANS | HOPS COMPLEX | CELL BIOLOGY | Microtubule-Associated Proteins - genetics | Microtubule-Associated Proteins - metabolism | Humans | Cataract - pathology | Qb-SNARE Proteins - metabolism | R-SNARE Proteins - metabolism | Caenorhabditis elegans Proteins - metabolism | Qb-SNARE Proteins - genetics | rab GTP-Binding Proteins - genetics | Endosomes - metabolism | Lysosomes - metabolism | Qc-SNARE Proteins - metabolism | Agenesis of Corpus Callosum - genetics | Endosomes - ultrastructure | Qa-SNARE Proteins - genetics | Autophagy - genetics | Synaptosomal-Associated Protein 25 - genetics | rab GTP-Binding Proteins - metabolism | Agenesis of Corpus Callosum - metabolism | Amino Acid Sequence | Caenorhabditis elegans - metabolism | Membrane Fusion | Signal Transduction | Caenorhabditis elegans - genetics | R-SNARE Proteins - genetics | Gene Expression Regulation | Autophagosomes - metabolism | Cataract - metabolism | Agenesis of Corpus Callosum - pathology | Autophagosomes - ultrastructure | Lysosomes - ultrastructure | Proteins - genetics | Sequence Homology, Amino Acid | Sequence Alignment | Animals | Proteins - metabolism | Qa-SNARE Proteins - metabolism | Protein Binding | Qc-SNARE Proteins - genetics | Cataract - genetics | Synaptosomal-Associated Protein 25 - metabolism | HeLa Cells | Caenorhabditis elegans Proteins - genetics | Yuan (China)
Journal Article
Journal Article