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PLoS ONE, 07/2016, Volume 11, Issue 7
Journal Article
The Journal of Pathology, ISSN 0022-3417, 08/2019, Volume 248, Issue 4, pp. 396 - 408
Joubert syndrome (JS) is a ciliopathy associated with mutations in numerous genes encoding cilia components. TALPID3 encoded by KIAA0856 in man (2700049A03Rik... 
sonic hedgehog | ataxia | KIAA0586 | Joubert syndrome | primary cilia | cerebellum | ENCODES | PATHOLOGY | CENTROSOMAL PROTEIN | GENE | ONCOLOGY | EXPANSION | CEREBELLAR DEVELOPMENT | CILIOPATHY | MUTATIONS | CEP290 | REVEALS | Abnormalities, Multiple - metabolism | Abnormalities, Multiple - pathology | Mice, Knockout - genetics | Sequence Deletion | Retina - metabolism | Exons | Cerebellum - abnormalities | Cell Cycle Proteins - genetics | Kidney Diseases, Cystic - genetics | Eye Abnormalities - metabolism | Abnormalities, Multiple - genetics | Disease Models, Animal | Cerebellum - metabolism | Cell Cycle Proteins - deficiency | Genetic Markers | Eye Abnormalities - genetics | Cerebellum - pathology | Kidney Diseases, Cystic - pathology | Kidney Diseases, Cystic - metabolism | Phenotype | Animals | Eye Abnormalities - pathology | Retina - abnormalities | Mice | Retina - pathology | Cerebellum | Brain | Animal models | Leukocyte migration | Congenital defects | Disorientation | Central nervous system | Neurodevelopmental disorders | Defects | Cell adhesion & migration | Genotype & phenotype | Signal transduction | Hemispheres | Clonal deletion | Clusters | Ataxia | Cilia | Phenotypes | Neurons | Granule cells | Molecular modelling | Hedgehog protein | Granular materials | Mutation | Cell migration | Synapses | Original Papers | Original Paper
Journal Article
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2019, Volume 9, Issue 1, pp. 1107 - 15
Angiogenin (hANG), a member of the Ribonuclease A superfamily has angiogenic, neurotrophic and neuroprotective activities. Mutations in hANG have been found in... 
SURVIVAL | GENE | MULTIDISCIPLINARY SCIENCES | ENDOTHELIAL-CELLS | SEQUENCE | RIBONUCLEOLYTIC ACTIVITY | MUTATIONS | IDENTIFICATION | ANGIOGENIN VARIANTS | EXPRESSION | NUCLEAR TRANSLOCATION | Ribonuclease A | Neuroprotection | Angiogenesis | Motor neurons | Leukocyte migration | Secretion | Amyotrophic lateral sclerosis | Zebrafish | Angiogenin | Embryos | Cell migration
Journal Article
Journal Article
Experimental Cell Research, ISSN 0014-4827, 08/2019, Volume 381, Issue 2, pp. 265 - 279
Journal Article
Stem Cell Research, ISSN 1873-5061, 04/2018, Volume 28, pp. 125 - 130
Three dimensional (3D) culture of mammalian cells is emerging as a powerful new tool to understand organogenesis as well as serve as models for diseases with... 
3-D cultures | Cryosectioning | Embryonic stem cells | EB arrays | STEM-CELLS | MOUSE | SIZE | CELL & TISSUE ENGINEERING | CELL BIOLOGY | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | BODIES | DIFFERENTIATION | CULTURES
Journal Article
PeerJ, ISSN 2167-8359, 10/2018, Volume 6, p. e5815
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), two late onset neurodegenerative diseases, have been shown to share overlapping cellular... 
Endocytosis | Amyotrophic lateral sclerosis | Genetic aspects | Research | Binding proteins | Gene expression
Journal Article
Journal Article
FEBS Letters, ISSN 0014-5793, 01/2020, Volume 594, Issue 2, pp. 327 - 336
Neprilysin (NEP) is a promiscuous zinc metalloprotease with broad substrate specificity and cleaves a remarkable diversity of substrates through endopeptidase... 
protein structure | zinc metalloprotease | crystallography | neprilysin | NEP | peptide‐bound | neutral endopeptidase | NATRIURETIC PEPTIDES | MECHANISM | INSULIN-DEGRADING ENZYME | BIOCHEMISTRY & MOLECULAR BIOLOGY | HYDROLYSIS | BETA | CELL BIOLOGY | REFINEMENT | POTENT | INHIBITION | BIOPHYSICS | peptide-bound
Journal Article
Journal of Structural Biology, ISSN 1047-8477, 10/2018, Volume 204, Issue 1, pp. 19 - 25
Neprilysin is a transmembrane M13 zinc metalloprotease responsible for the degradation of several biologically active peptides including insulin, enkephalin,... 
Substrate-free | Neprilysin | Zinc metalloprotease | Protein structure | Crystallography | CONVERTING ENZYME | SPECIFICITY | INSULIN-DEGRADING ENZYME | BIOCHEMISTRY & MOLECULAR BIOLOGY | NEUTRAL ENDOPEPTIDASE | VALIDATION | CELL BIOLOGY | REFINEMENT | POTENT | BIOPHYSICS | Neuropeptides | Endothelin | Structure | Analysis | Crystals | Protein binding
Journal Article