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Molecular cell, ISSN 1097-2765, 09/2016, 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 | Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Science & Technology | 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
Molecular vision, ISSN 1090-0535, 2019, Volume 25, Issue 1, pp. 118 - 128
Journal Article
Nature (London), ISSN 1476-4687, 03/2016, Volume 531, Issue 7594, pp. 323 - 328
Journal Article
Proceedings of the National Academy of Sciences - PNAS, ISSN 1091-6490, 2013, Volume 110, Issue 4, pp. 1500 - 1505
Advances in human genetics are leading to the discovery of new disease-causing mutations at a remarkable rate. Many such mutations, however, occur in genes... 
Brain | Enzymes | Nervous system diseases | Disease models | Neurodegenerative diseases | Lipids | Mice | Lipid metabolism | Genotypes | Microglia | Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Lysophospholipids - metabolism | Microglia - metabolism | Humans | Cataract - pathology | Monoacylglycerol Lipases - deficiency | Polyneuropathies - metabolism | Monoacylglycerol Lipases - genetics | Brain - metabolism | Monoacylglycerol Lipases - metabolism | Ataxia - genetics | Ataxia - metabolism | Retinitis Pigmentosa - physiopathology | Ataxia - pathology | Disease Models, Animal | Ataxia - physiopathology | Mice, Inbred C57BL | Retinitis Pigmentosa - genetics | Retinitis Pigmentosa - metabolism | Behavior, Animal - physiology | Lipid Metabolism | Polyneuropathies - physiopathology | Cataract - metabolism | Mice, Knockout | Phenotype | Animals | Metabolic Networks and Pathways | Polyneuropathies - pathology | Brain - pathology | Polyneuropathies - genetics | Cataract - genetics | Models, Neurological | Mutation | Cataract - physiopathology | Retinitis Pigmentosa - pathology | Gene mutations | Serine | Genomics | Physiological aspects | Nervous system | Development and progression | Genetic aspects | Degeneration | Research | Health aspects | Biological Sciences | neuroinflammation | lipidomics
Journal Article
Open biology, ISSN 2046-2441, 06/2015, Volume 5, Issue 6, p. 150047
RAB18, RAB3GAP1, RAB3GAP2 and TBC1D20 are each mutated in Warburg Micro syndrome, a rare autosomal recessive multisystem disorder. RAB3GAP1 and RAB3GAP2 form a... 
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 | gef | rab | ras | rab18 | gap
Journal Article
PloS one, ISSN 1932-6203, 2017, Volume 12, Issue 2, p. e0171153
Purpose Canonical Wnt signaling is associated with glaucoma pathogenesis and intraocular pressure (IOP) regulation. Our goal was to gain insight into the... 
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Calcium-Binding Proteins - metabolism | Exosomes - metabolism | Sucrose - chemistry | Epithelial Cells - metabolism | Nanoparticles - chemistry | Signal Transduction | Aqueous Humor - cytology | Intraocular Pressure | Humans | Cell Cycle Proteins - metabolism | Endosomal Sorting Complexes Required for Transport - metabolism | Eye - cytology | beta Catenin - metabolism | Ciliary Body - metabolism | Extracellular Vesicles - metabolism | DNA-Binding Proteins - metabolism | Transcription Factors - metabolism | Trabecular Meshwork - metabolism | Light | Cell Line, Tumor | Glaucoma - therapy | Scattering, Radiation | Glaucoma - metabolism | Wnt Signaling Pathway | Glaucoma | Physiological aspects | Care and treatment | Research | Wnt proteins | Intraocular pressure | Cataracts | Health sciences | Biotechnology | Phosphorylation | Wnt protein | Sucrose | Pathogenesis | Confocal microscopy | Ultracentrifugation | Biochemistry | Photon correlation spectroscopy | Exosomes | Kinases | Phosphatase | Cancer therapies | Nanoparticles | Proteins | Signal transduction | Vesicles | Extracellular matrix | Sugars | Differential media | Communication | Light scattering | Membrane vesicles | Pharmacology | Electron microscopy | Epithelium | Pressure | Drainage systems | Drainage | Signaling | Transmission electron microscopy | MicroRNAs | Cell lines | β-Catenin | Cell migration | Confocal | Media (differential)
Journal Article