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Autophagy, ISSN 1554-8627, 04/2015, Volume 11, Issue 4, pp. 685 - 700
OPTN (optineurin) is an autophagy receptor and mutations in the OPTN gene result in familial glaucoma (E50K) and amyotrophic lateral sclerosis (ALS) (E478G).... 
CCD, coiled-coil domain | FT, filter-trap assay | Ab, antibody | E | TUBA, alpha tubulin | Ub, ubiquitin B/C/D | WB, western blot | UbBD, ubiquitin-binding domain | UPS, ubiquitin-proteasome system | ALS, amyotrophic lateral sclerosis | BafA1, bafilomycin A | PBS, phosphate-buffered saline | huntingtin | dominant-negative | mHTT, mutant huntingtin | autophagy | f | K63, lysine 63 | WT, wild type | FRET efficiency | IBs, inclusion bodies | MYO6, myosin VI | IP, immunoprecipitation | TARDBP/TDP-43 | 1 | HD, Huntington disease | LIR, LC3-interacting region | K48, lysine 48 | optineurin | TARDBP/TDP-43, TAR DNA-binding protein | PFA, paraformaldehyde | TBK1, TANK-binding kinase 1 | OPTN, optineurin | Optineurin | Dominant-negative | Huntingtin | Autophagy | NEURODEGENERATIVE DISEASE | AMYOTROPHIC-LATERAL-SCLEROSIS | FRONTOTEMPORAL LOBAR DEGENERATION | SELECTIVE AUTOPHAGY | CELL BIOLOGY | TRANSFERRIN RECEPTOR | GLAUCOMA | HUNTINGTONS-DISEASE | MYOSIN-VI | GOLGI-COMPLEX | Protein Binding - genetics | Amyotrophic Lateral Sclerosis - genetics | Humans | Mutant Proteins - genetics | Transcription Factor TFIIIA - genetics | Cytoplasm - metabolism | Mutant Proteins - metabolism | Autophagy - physiology | Mutation - genetics | Transcription Factor TFIIIA - metabolism | Protein Folding | DNA-Binding Proteins - metabolism | Animals | Eye Proteins - metabolism | Amyotrophic Lateral Sclerosis - metabolism | Cytoplasm - genetics | Mice | Autophagy - genetics | Eye Proteins - genetics | Binding Sites
Journal Article
Journal of Cell Science, ISSN 0021-9533, 08/2016, Volume 129, Issue 16, pp. e1.1 - e1.1
Journal Article
The Journal of Pediatrics, ISSN 0022-3476, 02/2019, Volume 205, pp. 153 - 159.e6
To test the application of a target enrichment next-generation sequencing (NGS) jaundice panel in genetic diagnosis of pediatric liver diseases. We developed a... 
Jaundice | progressive familial intrahepatic cholestasis | gamma-glutamyl transferase | NR1H4 (FXR) | FIC1 | MUTATIONS CAUSE | DEFECTS | BSEP | INTRAHEPATIC CHOLESTASIS | INFANTS | PEDIATRICS | MDR3 | CHILDREN
Journal Article
Human Reproduction, ISSN 0268-1161, 07/2015, Volume 30, Issue 7, pp. 1732 - 1742
STUDY QUESTION Can the use of whole-exome sequencing (WES) together with single nucleotide polymorphism (SNP) array help to identify novel causative genes of... 
Journal Article
PLoS ONE, ISSN 1932-6203, 2011, Volume 6, Issue 8, p. e23075
Several neurodegenerative diseases including amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration with ubiquitinated inclusions (FTLD-U)... 
ALZHEIMERS-DISEASE | PHOSPHORYLATED TDP-43 | DROSOPHILA MODEL | MULTIDISCIPLINARY SCIENCES | TARDBP MUTATIONS | FTLD-U | AMYOTROPHIC-LATERAL-SCLEROSIS | FRONTOTEMPORAL LOBAR DEGENERATION | BINDING PROTEIN | LEWY BODIES | CELLULAR TOXICITY | Polyubiquitin - metabolism | Cell Line | Cell Proliferation | Animals, Genetically Modified | Drosophila | Humans | Casein Kinase II - antagonists & inhibitors | Immunoblotting | Reverse Transcriptase Polymerase Chain Reaction | DNA-Binding Proteins - metabolism | Animals | Amyotrophic Lateral Sclerosis - metabolism | Protein Binding | Benzimidazoles - pharmacology | Phosphorylation - drug effects | Salivary Glands - metabolism | Protein Multimerization - drug effects | Ubiquitin | Amyotrophic lateral sclerosis | Nervous system diseases | Genetic engineering | Cell culture | Phosphorylation | Pathogenesis | Transgenic | Cytotoxicity | Defense mechanisms | Agglomeration | Inclusions | Proteins | Ubiquitination | Neurodegeneration | Rodents | Inclusion bodies | Degeneration | Deoxyribonucleic acid--DNA | Immunoglobulins | Neurodegenerative diseases | Computer simulation | Cystic fibrosis | Salivary gland | Neurological diseases | Studies | Axons | Acids | Aggregates | Mutation | Molecular biology | Frontotemporal dementia | Alzheimers disease | Retinoic acid | Dementia | Deoxyribonucleic acid | DNA
Journal Article
Neoplasia, ISSN 1476-5586, 08/2018, Volume 20, Issue 8, pp. 838 - 847
Journal Article
Journal of Clinical Nursing, ISSN 0962-1067, 07/2012, pp. no - no
Journal Article
Journal of Clinical Nursing, ISSN 0962-1067, 03/2013, Volume 22, Issue 5-6, pp. 789 - 797
Journal Article
Advanced Materials Research, ISSN 1022-6680, 03/2014, Volume 910, pp. 234 - 237
For application as surface layer of PU composites for the future, puncture resistance and inflame retarding property are both considered. Therefore, in this... 
Tensile | Puncture resistance | Tear | Fiber composite
Journal Article
CHEMISTRY-A EUROPEAN JOURNAL, ISSN 0947-6539, 04/2011, Volume 17, Issue 17, pp. 4774 - 4787
We employed the water-soluble cytochrome P450 BM-3 to study the activity and regiospecificity of oxidation of fluorinated n-octanes. Three mutations, A74G,... 
PARTICULATE METHANE MONOOXYGENASE | METABOLITES | ACID | ALKANE HYDROXYLATION | METHYLOCOCCUS-CAPSULATUS BATH | P450BM-3 | STEREOCHEMISTRY | enzyme catalysis | cytochrome P450 | mutagenesis | CHEMISTRY, MULTIDISCIPLINARY | MEDICINAL CHEMISTRY | C-H activation | BACILLUS-MEGATERIUM | SUBSTRATE | fluorine | Stereoselectivity | Enzymes | Fluorine | Pocket | Activation | Fluorination | Substrates | Cytochromes P450
Journal Article