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ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3
Nature Genetics, ISSN 1061-4036, 2013, Volume 45, Issue 8, pp. 951 - 956
Nephronophthisis is an autosomal recessive cystic kidney disease that leads to renal failure in childhood or adolescence. Most NPHP gene products form...
CILIARY | NEPHROCYSTIN-3 | TANDEM AFFINITY PURIFICATION | ZEBRAFISH | PRONEPHROS | CILIOPATHIES | POLYCYSTIC KIDNEY-DISEASE | GENES | GENETICS & HEREDITY | PROTEIN COMPLEXES | MUTATIONS | Polycystic Kidney Diseases - genetics | Protein Kinases - metabolism | Protein Kinases - genetics | Exons | Humans | Xenopus - embryology | Gene Knockdown Techniques | Protein Interaction Maps | Kidney Diseases, Cystic - genetics | Kinesin - genetics | Nuclear Proteins - genetics | Introns | Zebrafish Proteins - metabolism | Nuclear Proteins - metabolism | Transcription Factors - genetics | Cilia - metabolism | Zebrafish - genetics | Kinesin - metabolism | Protein Transport | Transcription Factors - metabolism | Kidney Diseases, Cystic - metabolism | Phenotype | Animals | Xenopus - metabolism | Zebrafish - metabolism | Protein Binding | Consanguinity | Mice | Mutation | Zebrafish Proteins - genetics | NIMA-Related Kinases | Physiological aspects | Genetic aspects | Research | Kidney diseases | Gene mutations | Proteins | Cysts | Proteomics | State government | Defects
CILIARY | NEPHROCYSTIN-3 | TANDEM AFFINITY PURIFICATION | ZEBRAFISH | PRONEPHROS | CILIOPATHIES | POLYCYSTIC KIDNEY-DISEASE | GENES | GENETICS & HEREDITY | PROTEIN COMPLEXES | MUTATIONS | Polycystic Kidney Diseases - genetics | Protein Kinases - metabolism | Protein Kinases - genetics | Exons | Humans | Xenopus - embryology | Gene Knockdown Techniques | Protein Interaction Maps | Kidney Diseases, Cystic - genetics | Kinesin - genetics | Nuclear Proteins - genetics | Introns | Zebrafish Proteins - metabolism | Nuclear Proteins - metabolism | Transcription Factors - genetics | Cilia - metabolism | Zebrafish - genetics | Kinesin - metabolism | Protein Transport | Transcription Factors - metabolism | Kidney Diseases, Cystic - metabolism | Phenotype | Animals | Xenopus - metabolism | Zebrafish - metabolism | Protein Binding | Consanguinity | Mice | Mutation | Zebrafish Proteins - genetics | NIMA-Related Kinases | Physiological aspects | Genetic aspects | Research | Kidney diseases | Gene mutations | Proteins | Cysts | Proteomics | State government | Defects
Journal Article
Cell and Tissue Research, ISSN 0302-766X, 07/2017, Volume 369, Issue 1, pp. 119 - 126
Renal diseases are a growing health burden, and innovative models to study their pathomechanisms are greatly needed. Here, we highlight how the fruit fly...
Podocytes | Proximal tubules | Drosophila | Kidney | Renal genetics | VARIANTS | SEQUENCE | TUBULE | DYSFUNCTION | CELL | CELL BIOLOGY | Genetic research | Genetic aspects | Chronic kidney failure | Fruit-flies | Analysis | Animal models | Filtration | Nephropathy | Insects | Tools | Reabsorption | Kidney diseases | Fruits | Diseases
Podocytes | Proximal tubules | Drosophila | Kidney | Renal genetics | VARIANTS | SEQUENCE | TUBULE | DYSFUNCTION | CELL | CELL BIOLOGY | Genetic research | Genetic aspects | Chronic kidney failure | Fruit-flies | Analysis | Animal models | Filtration | Nephropathy | Insects | Tools | Reabsorption | Kidney diseases | Fruits | Diseases
Journal Article
PLoS Genetics, ISSN 1553-7390, 05/2018, Volume 14, Issue 5, p. e1007386
Recent evidence suggests that the presence of more than one pathogenic mutation in a single patient is more common than previously anticipated. One of the...
ADDUCIN | DROSOPHILA-MELANOGASTER | SLIT DIAPHRAGM | ACETYLATION | GENETICS & HEREDITY | DIGENIC INHERITANCE | MUTATIONS | NEPHROTIC SYNDROME | PCAF | CELL | ACETYLTRANSFERASES | Calmodulin-Binding Proteins - genetics | Cell Line | Humans | Cells, Cultured | Male | Kidney Failure, Chronic - genetics | Homozygote | Phenotype | Animals | p300-CBP Transcription Factors - genetics | DNA Mutational Analysis | Pedigree | Adolescent | Adult | Female | Drosophila Proteins - genetics | Mutation | Calmodulin-Binding Proteins - deficiency | Abnormalities, Multiple - genetics | Heart Diseases - genetics | Drosophila - genetics | Genetic aspects | Disease susceptibility | Kidney diseases | Gene mutations | Heart diseases | Drosophila | Gene expression | Health aspects | Cataracts | Pediatrics | Animal models | Nephrology | Laboratories | Funding | Cardiomyopathy | Genomics | Biology | Fibroblasts | Genetics | Acetyltransferase | Supervision | Phenotypes | Kidneys | Adducin | Cardiomyocytes | Nephrotic syndrome | Coronary artery disease | Medicine | Microencephaly | Lysine | Point mutation | Alzheimers disease
ADDUCIN | DROSOPHILA-MELANOGASTER | SLIT DIAPHRAGM | ACETYLATION | GENETICS & HEREDITY | DIGENIC INHERITANCE | MUTATIONS | NEPHROTIC SYNDROME | PCAF | CELL | ACETYLTRANSFERASES | Calmodulin-Binding Proteins - genetics | Cell Line | Humans | Cells, Cultured | Male | Kidney Failure, Chronic - genetics | Homozygote | Phenotype | Animals | p300-CBP Transcription Factors - genetics | DNA Mutational Analysis | Pedigree | Adolescent | Adult | Female | Drosophila Proteins - genetics | Mutation | Calmodulin-Binding Proteins - deficiency | Abnormalities, Multiple - genetics | Heart Diseases - genetics | Drosophila - genetics | Genetic aspects | Disease susceptibility | Kidney diseases | Gene mutations | Heart diseases | Drosophila | Gene expression | Health aspects | Cataracts | Pediatrics | Animal models | Nephrology | Laboratories | Funding | Cardiomyopathy | Genomics | Biology | Fibroblasts | Genetics | Acetyltransferase | Supervision | Phenotypes | Kidneys | Adducin | Cardiomyocytes | Nephrotic syndrome | Coronary artery disease | Medicine | Microencephaly | Lysine | Point mutation | Alzheimers disease
Journal Article
Journal of the American Society of Nephrology, ISSN 1046-6673, 05/2017, Volume 28, Issue 5, pp. 1521 - 1533
Steroid-resistant nephrotic syndrome is characterized by podocyte dysfunction. Drosophila garland cell nephrocytes are podocyte-like cells and thus provide a...
APOPTOSIS | MUTANT | STEROID-RESISTANT | RHO | UROLOGY & NEPHROLOGY | SNS | CUBILIN | VANILLIC ACID | DYSFUNCTION | ENDOCYTOSIS | ONSET | Drosophila Proteins - physiology | Nerve Tissue Proteins - physiology | Animals | Models, Biological | Humans | Drosophila - cytology | Nephrotic Syndrome - genetics | COQ2 | SRNS | garland cell | Drosophila | nephrocyte | nephrotic syndrome | Basic Research
APOPTOSIS | MUTANT | STEROID-RESISTANT | RHO | UROLOGY & NEPHROLOGY | SNS | CUBILIN | VANILLIC ACID | DYSFUNCTION | ENDOCYTOSIS | ONSET | Drosophila Proteins - physiology | Nerve Tissue Proteins - physiology | Animals | Models, Biological | Humans | Drosophila - cytology | Nephrotic Syndrome - genetics | COQ2 | SRNS | garland cell | Drosophila | nephrocyte | nephrotic syndrome | Basic Research
Journal Article
PLoS ONE, ISSN 1932-6203, 06/2015, Volume 10, Issue 6, pp. e0129424 - e0129424
The coxsackie-and adenovirus receptor (CXADR) is a member of the immunoglobulin protein superfamily, present in various epithelial cells including glomerular...
CONGENITAL NEPHROTIC SYNDROME | COXSACKIEVIRUS | ADHESION MOLECULE | SESTRIN 2 | GLOMERULAR PROTEIN | MULTIDISCIPLINARY SCIENCES | CELL-ADHESION | ADENOVIRUS RECEPTOR CAR | TIGHT JUNCTION | FOOT PROCESSES | TRANSGENIC MICE | Gene Expression | Podocytes - metabolism | Kidney - embryology | Stress, Physiological | Coxsackie and Adenovirus Receptor-Like Membrane Protein - metabolism | Gene Knockout Techniques | Mice, Knockout | Kidney Glomerulus - ultrastructure | Kidney - metabolism | Animals | Gene Deletion | Kidney Glomerulus - metabolism | Kidney Glomerulus - embryology | Mice | Coxsackie and Adenovirus Receptor-Like Membrane Protein - genetics | Kidney Glomerulus - cytology | Genetic engineering | Pattern formation | Neurosciences | Animal models | Epithelial cells | Transgenic | Viruses | Biology | Lethality | Experiments | Proteins | Clonal deletion | Rodents | Deletion | Physiology | Stress response | Injuries | Urine | Phenotypes | Kidneys | Zebrafish | Mammals | Embryos | Medicine | Brain research | Molecular modelling | Microscopy | Adenoviruses | Laboratory animals | Cellular stress response | Index Medicus
CONGENITAL NEPHROTIC SYNDROME | COXSACKIEVIRUS | ADHESION MOLECULE | SESTRIN 2 | GLOMERULAR PROTEIN | MULTIDISCIPLINARY SCIENCES | CELL-ADHESION | ADENOVIRUS RECEPTOR CAR | TIGHT JUNCTION | FOOT PROCESSES | TRANSGENIC MICE | Gene Expression | Podocytes - metabolism | Kidney - embryology | Stress, Physiological | Coxsackie and Adenovirus Receptor-Like Membrane Protein - metabolism | Gene Knockout Techniques | Mice, Knockout | Kidney Glomerulus - ultrastructure | Kidney - metabolism | Animals | Gene Deletion | Kidney Glomerulus - metabolism | Kidney Glomerulus - embryology | Mice | Coxsackie and Adenovirus Receptor-Like Membrane Protein - genetics | Kidney Glomerulus - cytology | Genetic engineering | Pattern formation | Neurosciences | Animal models | Epithelial cells | Transgenic | Viruses | Biology | Lethality | Experiments | Proteins | Clonal deletion | Rodents | Deletion | Physiology | Stress response | Injuries | Urine | Phenotypes | Kidneys | Zebrafish | Mammals | Embryos | Medicine | Brain research | Molecular modelling | Microscopy | Adenoviruses | Laboratory animals | Cellular stress response | Index Medicus
Journal Article
Cell Reports, ISSN 2211-1247, 05/2018, Volume 23, Issue 8, pp. 2495 - 2508
Damage to and loss of glomerular podocytes has been identified as the culprit lesion in progressive kidney diseases. Here, we combine mass spectrometry-based...
systems biology | hereditary nephrotic syndrome | kinase | proteinuria | pulse SILAC | slit diaphragm | metabolism | end-stage renal disease | focal segmental glomerulosclerosis | proteostasis
systems biology | hereditary nephrotic syndrome | kinase | proteinuria | pulse SILAC | slit diaphragm | metabolism | end-stage renal disease | focal segmental glomerulosclerosis | proteostasis
Journal Article
The EMBO Journal, ISSN 0261-4189, 08/2018, Volume 37, Issue 15, p. n/a
Polycystic kidney disease (PKD) and other renal ciliopathies are characterized by cysts, inflammation, and fibrosis. Cilia function as signaling centers, but a...
macrophages | cilia | nephronophthisis | polycystic kidney disease | MIGRATION | BIOCHEMISTRY & MOLECULAR BIOLOGY | KINASE | MONOCYTE CHEMOATTRACTANT PROTEIN-1 | PLANAR CELL POLARITY | CELL BIOLOGY | NEPHROCYSTIN-4 | GENE | DISEASE | MUTATIONS | CYST GROWTH | CC chemokine receptors | Phenotypes | Kidneys | Polycystic kidney | Epithelial cells | Homeostasis | Polycystic kidney disease 1 protein | Leukocytes (mononuclear) | Inflammation | Macrophages | Renal tubules | Proteins | LKB1 protein | Phagocytes | Signaling | Clonal deletion | CCR2 protein | Cysts | Fibrosis | Deletion | Chemokines | Monocyte chemoattractant protein 1 | Cilia | Immune system | Immunology | Cell Adhesion, Polarity & Cytoskeleton | Molecular Biology of Disease
macrophages | cilia | nephronophthisis | polycystic kidney disease | MIGRATION | BIOCHEMISTRY & MOLECULAR BIOLOGY | KINASE | MONOCYTE CHEMOATTRACTANT PROTEIN-1 | PLANAR CELL POLARITY | CELL BIOLOGY | NEPHROCYSTIN-4 | GENE | DISEASE | MUTATIONS | CYST GROWTH | CC chemokine receptors | Phenotypes | Kidneys | Polycystic kidney | Epithelial cells | Homeostasis | Polycystic kidney disease 1 protein | Leukocytes (mononuclear) | Inflammation | Macrophages | Renal tubules | Proteins | LKB1 protein | Phagocytes | Signaling | Clonal deletion | CCR2 protein | Cysts | Fibrosis | Deletion | Chemokines | Monocyte chemoattractant protein 1 | Cilia | Immune system | Immunology | Cell Adhesion, Polarity & Cytoskeleton | Molecular Biology of Disease
Journal Article
Journal of Cell Biology, ISSN 0021-9525, 2015, Volume 211, Issue 5, pp. 963 - 973
Motile cilia polarization requires intracellular anchorage to the cytoskeleton; however, the molecular machinery that supports this process remains elusive. We...
SITUS-INVERSUS | DISEASE GENES | LOCALIZES | NEPHROCYSTIN-4 | TRANSITION ZONE | ROLES | BASAL BODIES | FUZZY | CILIOGENESIS | CILIA | CELL BIOLOGY | Protein Structure, Tertiary | Epidermis - metabolism | Green Fluorescent Proteins - metabolism | Oligonucleotides - chemistry | Actin Cytoskeleton - metabolism | Immunoprecipitation | Humans | Actins - metabolism | Molecular Sequence Data | Basal Bodies - metabolism | Cilia - metabolism | Gene Knockdown Techniques | Animals | Proteins - metabolism | Xenopus laevis - metabolism | HEK293 Cells | Protein Binding | Xenopus Proteins - metabolism | Membrane Proteins - metabolism | Microfilament Proteins - metabolism | Adaptor Proteins, Signal Transducing - metabolism | Drosophila melanogaster | Muscle proteins | Actin | Analysis
SITUS-INVERSUS | DISEASE GENES | LOCALIZES | NEPHROCYSTIN-4 | TRANSITION ZONE | ROLES | BASAL BODIES | FUZZY | CILIOGENESIS | CILIA | CELL BIOLOGY | Protein Structure, Tertiary | Epidermis - metabolism | Green Fluorescent Proteins - metabolism | Oligonucleotides - chemistry | Actin Cytoskeleton - metabolism | Immunoprecipitation | Humans | Actins - metabolism | Molecular Sequence Data | Basal Bodies - metabolism | Cilia - metabolism | Gene Knockdown Techniques | Animals | Proteins - metabolism | Xenopus laevis - metabolism | HEK293 Cells | Protein Binding | Xenopus Proteins - metabolism | Membrane Proteins - metabolism | Microfilament Proteins - metabolism | Adaptor Proteins, Signal Transducing - metabolism | Drosophila melanogaster | Muscle proteins | Actin | Analysis
Journal Article
Journal of the American Society of Nephrology, ISSN 1046-6673, 04/2013, Volume 24, Issue 5, pp. 727 - 743
The molecular mechanisms that maintain podocytes and consequently, the integrity of the glomerular filtration barrier are incompletely understood. Here, we...
AMINONUCLEOSIDE NEPHROSIS | PROTEIN | PERMEABILITY | MEMBRANE | UROLOGY & NEPHROLOGY | AUTOPHAGOSOME FORMATION | ELECTRON MICROSCOPY | GLOMERULAR CAPILLARY WALL | SACCHAROMYCES-CEREVISIAE | FERRITIN TRANSFER | CELL BIOLOGY | Mice, Inbred C57BL | Homeostasis | Kidney Glomerulus - pathology | Autophagy | Endosomes - metabolism | Sclerosis | Class III Phosphatidylinositol 3-Kinases - deficiency | Endocytosis | Animals | Podocytes - physiology | Mice | Drosophila melanogaster | Class III Phosphatidylinositol 3-Kinases - physiology | Proteinuria - etiology | Basic Research
AMINONUCLEOSIDE NEPHROSIS | PROTEIN | PERMEABILITY | MEMBRANE | UROLOGY & NEPHROLOGY | AUTOPHAGOSOME FORMATION | ELECTRON MICROSCOPY | GLOMERULAR CAPILLARY WALL | SACCHAROMYCES-CEREVISIAE | FERRITIN TRANSFER | CELL BIOLOGY | Mice, Inbred C57BL | Homeostasis | Kidney Glomerulus - pathology | Autophagy | Endosomes - metabolism | Sclerosis | Class III Phosphatidylinositol 3-Kinases - deficiency | Endocytosis | Animals | Podocytes - physiology | Mice | Drosophila melanogaster | Class III Phosphatidylinositol 3-Kinases - physiology | Proteinuria - etiology | Basic Research
Journal Article
Molecular and Cellular Biology, ISSN 0270-7306, 08/2011, Volume 31, Issue 16, pp. 3241 - 3251
Article Usage Stats Services MCB Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley...
IMMUNOGLOBULIN SUPERFAMILY | ADHESION | AMPA RECEPTOR TRAFFICKING | DEVELOPING DROSOPHILA RETINA | SLIT DIAPHRAGM | BIOCHEMISTRY & MOLECULAR BIOLOGY | LONG-TERM DEPRESSION | MEMBRANE CURVATURE | IRREC-RST PROTEIN | SURFACE EXPRESSION | PKC PHOSPHORYLATION | CELL BIOLOGY | Carrier Proteins - physiology | Protein Structure, Tertiary | Drosophila | Humans | Protein Multimerization | Cell Communication | Eye - cytology | Morphogenesis | Animals | PDZ Domains | Protein Binding | Membrane Proteins - metabolism | Nuclear Proteins - physiology | Protein Stability | Drosophila melanogaster | Protein Kinase C
IMMUNOGLOBULIN SUPERFAMILY | ADHESION | AMPA RECEPTOR TRAFFICKING | DEVELOPING DROSOPHILA RETINA | SLIT DIAPHRAGM | BIOCHEMISTRY & MOLECULAR BIOLOGY | LONG-TERM DEPRESSION | MEMBRANE CURVATURE | IRREC-RST PROTEIN | SURFACE EXPRESSION | PKC PHOSPHORYLATION | CELL BIOLOGY | Carrier Proteins - physiology | Protein Structure, Tertiary | Drosophila | Humans | Protein Multimerization | Cell Communication | Eye - cytology | Morphogenesis | Animals | PDZ Domains | Protein Binding | Membrane Proteins - metabolism | Nuclear Proteins - physiology | Protein Stability | Drosophila melanogaster | Protein Kinase C
Journal Article
Frontiers in Pediatrics, ISSN 2296-2360, 12/2017, Volume 5, p. 262
Glomerular disorders are a major cause of end-stage renal disease and effective therapies are often lacking. Nephrocytes are considered to be part of the...
Podocyte | Endocytosis | Drosophila | Glomerular disease | Renal disease | Garland cell | Nephrocyte | HEREDITARY MEGALOBLASTIC-ANEMIA | KIDNEY-DISEASE | PERICARDIAL CELLS | PROTEIN REABSORPTION | CONGENITAL NEPHROTIC SYNDROME | SLIT DIAPHRAGM | glomerular disease | renal disease | garland cell | podocyte | endocytosis | PEDIATRICS | MUTATIONS | MELANOGASTER | nephrocyte | Chronic kidney failure | Analysis
Podocyte | Endocytosis | Drosophila | Glomerular disease | Renal disease | Garland cell | Nephrocyte | HEREDITARY MEGALOBLASTIC-ANEMIA | KIDNEY-DISEASE | PERICARDIAL CELLS | PROTEIN REABSORPTION | CONGENITAL NEPHROTIC SYNDROME | SLIT DIAPHRAGM | glomerular disease | renal disease | garland cell | podocyte | endocytosis | PEDIATRICS | MUTATIONS | MELANOGASTER | nephrocyte | Chronic kidney failure | Analysis
Journal Article
Journal of Neurogenetics, ISSN 0167-7063, 12/2014, Volume 28, Issue 3-4, pp. 264 - 269
Abstract The description of the Rst protein by Karl-Friedrich Fischbach and colleagues was a milestone in the discovery of the irre cell recognition module...
IRM proteins | Neph1 | nephrin | nephrocytes | podocytes | Podocytes | Nephrin | Nephrocytes | IMMUNOGLOBULIN-LIKE PROTEIN | SLIT DIAPHRAGM | DROSOPHILA-MELANOGASTER | AXONAL PROJECTIONS | MYOBLAST FUSION | NEUROSCIENCES | CELL-DEATH | CHIASM-C-ROUGHEST | GENE | GENETICS & HEREDITY | IRREC-RST PROTEIN | Biological Evolution | Animals | Drosophila Proteins - genetics | Eye Proteins - genetics | Cell Adhesion Molecules, Neuronal - genetics | Drosophila - genetics
IRM proteins | Neph1 | nephrin | nephrocytes | podocytes | Podocytes | Nephrin | Nephrocytes | IMMUNOGLOBULIN-LIKE PROTEIN | SLIT DIAPHRAGM | DROSOPHILA-MELANOGASTER | AXONAL PROJECTIONS | MYOBLAST FUSION | NEUROSCIENCES | CELL-DEATH | CHIASM-C-ROUGHEST | GENE | GENETICS & HEREDITY | IRREC-RST PROTEIN | Biological Evolution | Animals | Drosophila Proteins - genetics | Eye Proteins - genetics | Cell Adhesion Molecules, Neuronal - genetics | Drosophila - genetics
Journal Article
Human Mutation, ISSN 1059-7794, 2019, Volume 40, Issue 3, pp. 267 - 280
Next‐generation sequencing (NGS) has been instrumental in solving the genetic basis of rare inherited diseases, especially neurodevelopmental syndromes....
early endosome | endo‐lysosome | storage disease | neurodevelopmental syndrome | PPP1R21 | PP1 | RAB5 | GENETICS & HEREDITY | endo-lysosome | PP2A | MUTATIONS | SNX14 CAUSE | CATHEPSIN-D DEFICIENCY | Medicine, Experimental | Medical research | Nucleotide sequencing | Genomics | DNA sequencing | Brain | Transferrin | Phenotypes | Immunoprecipitation | Congenital defects | Genomes | Substantia alba | Neurodevelopmental disorders | Corpus callosum | Hereditary diseases | Storage diseases | Alleles | Proteomics | Fibroblasts | Localization | Index Medicus | Rapid Communications | Rapid Communication
early endosome | endo‐lysosome | storage disease | neurodevelopmental syndrome | PPP1R21 | PP1 | RAB5 | GENETICS & HEREDITY | endo-lysosome | PP2A | MUTATIONS | SNX14 CAUSE | CATHEPSIN-D DEFICIENCY | Medicine, Experimental | Medical research | Nucleotide sequencing | Genomics | DNA sequencing | Brain | Transferrin | Phenotypes | Immunoprecipitation | Congenital defects | Genomes | Substantia alba | Neurodevelopmental disorders | Corpus callosum | Hereditary diseases | Storage diseases | Alleles | Proteomics | Fibroblasts | Localization | Index Medicus | Rapid Communications | Rapid Communication
Journal Article