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science & technology (553) 553
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phosphorylation (25) 25
rab gtp-binding proteins (25) 25
rab27a (25) 25
gene expression regulation (24) 24
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immunologic deficiency syndromes - genetics (24) 24
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1. Full Text Imbalanced Rab3d versus Rab27 increases cathepsin S secretion from lacrimal acini in a mouse model of Sjögren’s syndrome
by Meng, Zhen and Edman, Maria C and Hsueh, Pang-Yu and Chen, Chiao-Yu and Klinngam, Wannita and Tolmachova, Tanya and Okamoto, Curtis T and Hamm-Alvarez, Sarah F
American Journal of Physiology: Cell Physiology, ISSN 0363-6143, 06/2016, Volume 310, Issue 11, pp. C942 - C954
Rab | Lacrimal gland | Exocytosis | Lysosomal protease | Sjögren’s Syndrome | Tears | Physiology | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Male | rab GTP-Binding Proteins - genetics | Transfection | rab3 GTP-Binding Proteins - metabolism | Lacrimal Apparatus - secretion | rab3 GTP-Binding Proteins - deficiency | Secretory Vesicles - enzymology | Sjogren's Syndrome - genetics | rab GTP-Binding Proteins - deficiency | Disease Models, Animal | Sjogren's Syndrome - enzymology | Tears - drug effects | Tears - enzymology | rab GTP-Binding Proteins - metabolism | Rabbits | Lacrimal Apparatus - drug effects | Membrane Microdomains - enzymology | Mice, Inbred C57BL | Cells, Cultured | Genotype | Cathepsins - secretion | rab3 GTP-Binding Proteins - genetics | Carbachol - pharmacology | Phenotype | Animals | Cathepsins - genetics | Cathepsins - metabolism | Lacrimal Apparatus - enzymology | Tears - secretion | rab27 GTP-Binding Proteins | Mice, Inbred NOD | Mice, Inbred BALB C | Exocrine glands | Protein expression | Autoimmune diseases | Rodents | Index Medicus | lysosomal protease | lacrimal gland | exocytosis | Sjögren's Syndrome | tears
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2. Full Text Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation
by Handley, Mark T and Carpanini, Sarah M and Mali, Girish R and Sidjanin, Duska J and Aligianis, Irene A and Jackson, Ian J and Fitzpatrick, David R
Open biology, ISSN 2046-2441, 06/2015, Volume 5, Issue 6, pp. 150047 - 150047
RAB18 | GEF | RAB | Ras | GAP | Rab | Life Sciences & Biomedicine | Biochemistry & Molecular Biology | Science & Technology | Abnormalities, Multiple - metabolism | Abnormalities, Multiple - pathology | Abnormalities, Multiple - etiology | Humans | Cataract - pathology | Endoplasmic Reticulum - metabolism | rab GTP-Binding Proteins - genetics | Guanosine Triphosphate - metabolism | Case-Control Studies | Intellectual Disability - metabolism | Optic Atrophy - pathology | Flow Cytometry | Optic Atrophy - etiology | rab3 GTP-Binding Proteins - metabolism | Hypogonadism - metabolism | Optic Atrophy - metabolism | Microcephaly - pathology | Cornea - pathology | Real-Time Polymerase Chain Reaction | Fibroblasts - metabolism | Hypogonadism - pathology | rab GTP-Binding Proteins - metabolism | rab1 GTP-Binding Proteins - metabolism | Cataract - etiology | RNA, Messenger - genetics | Cells, Cultured | Gene Expression Regulation | Intellectual Disability - pathology | Microcephaly - metabolism | Cataract - metabolism | Fibroblasts - pathology | Reverse Transcriptase Polymerase Chain Reaction | Blotting, Western | Mice, Knockout | rab1 GTP-Binding Proteins - genetics | Hydrolysis | rab3 GTP-Binding Proteins - genetics | Cornea - metabolism | Animals | Cataract - congenital | Fluorescent Antibody Technique | Microcephaly - etiology | Cytosol - metabolism | Mice | Cornea - abnormalities | HeLa Cells | Intellectual Disability - etiology | Hypogonadism - etiology | Index Medicus | gef | rab | ras | rab18 | gap
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3. Full Text Different NK cell-activating receptors preferentially recruit Rab27a or Munc13-4 to perforin-containing granules for cytotoxicity
by Wood, S.M and Meeths, M and Chiang, S.C.C and Bechensteen, A.G and Boelens, J.J and Heilmann, C and Horiuchi, H and Rosthøj, S and Rutynowska, O and Winiarski, J and Stow, J.L and Nordenskjöld, M and Henter, J.I and Ljunggren, H.G and Bryceson, Y.T
Blood, ISSN 0006-4971, 2009, Volume 114, Issue 19, pp. 4117 - 4127
Life Sciences & Biomedicine | Hematology | Science & Technology | Hematologic and hematopoietic diseases | Biological and medical sciences | Medical sciences | Tetradecanoylphorbol Acetate - pharmacology | Humans | Lymphohistiocytosis, Hemophagocytic - physiopathology | GPI-Linked Proteins | Lymphocyte Function-Associated Antigen-1 - metabolism | rab GTP-Binding Proteins - genetics | Case-Control Studies | Receptors, IgG - metabolism | Membrane Proteins - deficiency | Cytoplasmic Granules - metabolism | Killer Cells, Natural - immunology | Membrane Proteins - metabolism | Lymphohistiocytosis, Hemophagocytic - genetics | Child | Lymphohistiocytosis, Hemophagocytic - immunology | rab GTP-Binding Proteins - deficiency | rab GTP-Binding Proteins - metabolism | Cell Degranulation | Signal Transduction | Lymphocyte Activation | Membrane Proteins - genetics | Killer Cells, Natural - physiology | Ionomycin - pharmacology | rab27 GTP-Binding Proteins | Killer Cells, Natural - drug effects | Perforin - metabolism | Mutation | In Vitro Techniques | Cytoplasmic Granules - immunology | Receptors, Immunologic - metabolism | Cytotoxicity, Immunologic | Index Medicus | Abridged Index Medicus | Medicin och hälsovetenskap
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4. Full Text RAB7L1 Interacts with LRRK2 to Modify Intraneuronal Protein Sorting and Parkinson’s Disease Risk
by MacLeod, David A and Rhinn, Herve and Kuwahara, Tomoki and Zolin, Ari and Di Paolo, Gilbert and McCabe, Brian D and Marder, Karen S and Honig, Lawrence S and Clark, Lorraine N and Small, Scott A and Abeliovich, Asa
Neuron (Cambridge, Mass.), ISSN 0896-6273, 02/2013, Volume 77, Issue 3, pp. 425 - 439
Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | rab5 GTP-Binding Proteins - genetics | Immunoprecipitation | Humans | Middle Aged | Cerebral Cortex - pathology | Male | Tubulin - genetics | rab GTP-Binding Proteins - genetics | Green Fluorescent Proteins - genetics | Statistics as Topic | Vesicle-Associated Membrane Protein 2 - genetics | Cerebral Cortex - cytology | Tyrosine 3-Monooxygenase | rab5 GTP-Binding Proteins - metabolism | Tubulin - metabolism | Transfection | Aged, 80 and over | Female | Neurons - metabolism | Parkinson Disease - metabolism | Protein-Serine-Threonine Kinases - metabolism | Animals, Newborn | Synaptosomal-Associated Protein 25 - genetics | rab GTP-Binding Proteins - metabolism | Genetic Predisposition to Disease | Genome-Wide Association Study | Parkinson Disease - pathology | Animals, Genetically Modified | Drosophila | Cells, Cultured | Protein-Serine-Threonine Kinases - genetics | Rats | Parkinson Disease - genetics | Mutation - genetics | Rats, Sprague-Dawley | Protein Transport - genetics | Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 | Animals | Polymorphism, Single Nucleotide - genetics | Aged | Mice | Synaptosomal-Associated Protein 25 - metabolism | Vesicle-Associated Membrane Protein 2 - metabolism | Parkinson's disease | Neurons | Genomics | Risk factors | Brain | Laboratories | Parkinsons disease | Kinases | Gene expression | Experiments | Defects | Proteins | Pathology | Insects | Neurodegeneration | Gene loci | Mutation | Index Medicus
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5. Full Text RAE-1, a novel PHR binding protein, is required for axon termination and synapse formation in Caenorhabditis elegans
by Grill, Brock and Chen, Lizhen and Tulgren, Erik D and Baker, Scott T and Bienvenut, Willy and Anderson, Matthew and Quadroni, Manfredo and Jin, Yishi and Garner, Craig C
The Journal of neuroscience, ISSN 0270-6474, 02/2012, Volume 32, Issue 8, pp. 2628 - 2636
Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | 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 | Index Medicus
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6. Full Text Patients with Griscelli syndrome and normal pigmentation identify RAB27A mutations that selectively disrupt MUNC13-4 binding
by Cetica, Valentina, PhD and Hackmann, Yvonne, PhD and Grieve, Samantha and Sieni, Elena, MD and Ciambotti, Benedetta, PhD and Coniglio, Maria Luisa, PhD and Pende, Daniela, PhD and Gilmour, Kimberly, MD and Romagnoli, Paolo, MD and Griffiths, Gillian M., PhD and Aricò, Maurizio, MD
Journal of allergy and clinical immunology, ISSN 0091-6749, 2014, Volume 135, Issue 5, pp. 1310 - 1318.e1
Allergy and Immunology | Griscelli syndrome type 2 | melanophilin | Hemophagocytic lymphohistiocytosis | familial hemophagocytic lymphohistiocytosis | natural killer cells | cytotoxic T lymphocyte | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Perforin - genetics | Humans | Child, Preschool | Infant | Male | rab GTP-Binding Proteins - genetics | Case-Control Studies | Skin Pigmentation - genetics | DNA Mutational Analysis | Female | Membrane Proteins - metabolism | Lymphohistiocytosis, Hemophagocytic - genetics | Child | rab GTP-Binding Proteins - metabolism | Cell Line | Gene Expression | Cell Degranulation | Lymphohistiocytosis, Hemophagocytic - diagnosis | Models, Molecular | Genetic Markers | Phenotype | Membrane Proteins - chemistry | Lymphohistiocytosis, Hemophagocytic - metabolism | Adolescent | Albinism - genetics | Protein Binding | rab27 GTP-Binding Proteins | Protein Conformation | rab GTP-Binding Proteins - chemistry | Mutation | Adaptor Proteins, Signal Transducing - metabolism | Cohort Studies | Cytotoxicity, Immunologic | Transplantation | Hematopoietic stem cells | Proteins | Stem cells | Amino acids | Cytotoxicity | Patients | Immune system | Index Medicus | Abridged Index Medicus | Immune Deficiencies, Infection, and Systemic Immune Disorders | Slp2a, Synaptotagmin-like protein 2a | GRA, Granule release assay | GFP, Green fluorescent protein | GTP, Guanosine triphosphate | GS2, Griscelli syndrome type 2 | FHL, Familial Hemophagocytic lymphohistiocytosis | OMIM, Online Mendelian Inheritance in Man | HLH, Hemophagocytic lymphohistiocytosis | CTL, Cytotoxic T lymphocyte | Mlph, melanophilin | NK, Natural killer
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7. Full Text The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2
by Jessen, Birthe and Bode, Sebastian F. N and Ammann, Sandra and Chakravorty, Subarna and Davies, Graham and Diestelhorst, Jana and Frei-Jones, Melissa and Gahl, William A and Gochuico, Bernadette R and Griese, Matthias and Griffiths, Gillian and Janka, Gritta and Klein, Christoph and Kögl, Tamara and Kurnik, Karin and Lehmberg, Kai and Maul-Pavicic, Andrea and Mumford, Andrew D and Pace, David and Parvaneh, Nima and Rezaei, Nima and De Saint Basile, Geneviève and Schmitt-Graeff, Annette and Schwarz, Klaus and Karasu, Gulsun T and Zieger, Barbara and Zur Stadt, Udo and Aichele, Peter and Ehl, Stephan
Blood, ISSN 0006-4971, 04/2013, Volume 121, Issue 15, pp. 2943 - 2951
Life Sciences & Biomedicine | Hematology | Science & Technology | Lymphohistiocytosis, Hemophagocytic - etiology | Adaptor Protein Complex beta Subunits - deficiency | Humans | Child, Preschool | rab GTP-Binding Proteins - genetics | Young Adult | Flow Cytometry | Adaptor Protein Complex 3 - deficiency | Adult | Adaptor Protein Complex beta Subunits - immunology | Adaptor Protein Complex beta Subunits - genetics | Lymphohistiocytosis, Hemophagocytic - genetics | Child | Lymphohistiocytosis, Hemophagocytic - immunology | rab GTP-Binding Proteins - deficiency | T-Lymphocytes, Cytotoxic - immunology | Adaptor Protein Complex 3 - immunology | Cytotoxicity, Immunologic - genetics | Mice, Inbred C57BL | Risk Factors | Mice, Knockout | Hermanski-Pudlak Syndrome - immunology | Hermanski-Pudlak Syndrome - genetics | Animals | T-Lymphocytes, Cytotoxic - metabolism | rab GTP-Binding Proteins - immunology | Hermanski-Pudlak Syndrome - complications | Adolescent | Adaptor Protein Complex 3 - genetics | rab27 GTP-Binding Proteins | Mice | Mutation | Cytotoxicity, Immunologic - immunology | Index Medicus | Abridged Index Medicus | Immunobiology
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8. Full Text Kinetics of Rab27a‐dependent actions on vesicle docking and priming in pancreatic β‐cells
by Merrins, Matthew J and Stuenkel, Edward L
The Journal of physiology, ISSN 0022-3751, 11/2008, Volume 586, Issue 22, pp. 5367 - 5381
Neurosciences | Physiology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Male | rab GTP-Binding Proteins - genetics | Exocytosis - physiology | Exocytosis - drug effects | rab3A GTP-Binding Protein - genetics | Insulin-Secreting Cells - metabolism | Guanine Nucleotide Exchange Factors - metabolism | rab3A GTP-Binding Protein - deficiency | Female | Cyclic AMP - metabolism | Insulin Secretion | rab GTP-Binding Proteins - deficiency | rab GTP-Binding Proteins - metabolism | Signal Transduction | rab3A GTP-Binding Protein - metabolism | Glucose - pharmacology | Mice, Inbred C3H | Mice, Knockout | Insulin - metabolism | Animals | Carrier Proteins - metabolism | Insulin-Secreting Cells - drug effects | rab27 GTP-Binding Proteins | Mice | Kinetics | In Vitro Techniques | Index Medicus | Cellular
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9. Full Text Impaired dense core vesicle maturation in Caenorhabditis elegans mutants lacking Rab2
by Edwards, Stacey L and Charlie, Nicole K and Richmond, Janet E and Hegermann, Jan and Eimer, Stefan and Miller, Kenneth G
The Journal of cell biology, ISSN 0021-9525, 09/2009, Volume 186, Issue 6, pp. 881 - 895
Life Sciences & Biomedicine | Science & Technology | Cell Biology | Synaptic Vesicles - metabolism | Phosphatidylinositol Phosphates - metabolism | Evoked Potentials | rab GTP-Binding Proteins - genetics | rab2 GTP-Binding Protein - deficiency | Neurons - ultrastructure | Excitatory Postsynaptic Potentials | Secretory Vesicles - enzymology | rab GTP-Binding Proteins - deficiency | GTP-Binding Protein alpha Subunits - metabolism | Caenorhabditis elegans - genetics | Secretory Vesicles - ultrastructure | Axons - metabolism | Synapses - enzymology | Genotype | Neuropeptides - metabolism | Protein Transport | Caenorhabditis elegans - ultrastructure | Locomotion | Phenotype | Animals | Miniature Postsynaptic Potentials | Neurons - enzymology | rab2 GTP-Binding Protein - genetics | Muscles - innervation | Endosomes - enzymology | Mutation | Caenorhabditis elegans Proteins - genetics | Caenorhabditis elegans - enzymology | Physiological aspects | Caenorhabditis elegans | Genetic aspects | Cell organelles | Research | Gene mutations | Proteins | Bacteria | Genetics | Peptides | Index Medicus | s
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10. Full Text Integrin α8 and Pcdh15 act as a complex to regulate cilia biogenesis in sensory cells
by Goodman, Linda and Zallocchi, Marisa
Journal of cell science, ISSN 0021-9533, 2017, Volume 130, Issue 21, pp. 3698 - 3712
Integrin α8 | Sensory cilia | Usher syndrome | Pcdh15 | RNA, Small Interfering - genetics | Hair Cells, Auditory - metabolism