Редактирование: CHSY1 (раздел)

==Publications==

{{medline-entry
|title=Loss of Chondroitin Sulfate Modification Causes Inflammation and Neurodegeneration in [i]skt[/i] Mice.
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/31754016
|abstract=One major aspect of the aging process is the onset of chronic, low-grade inflammation that is highly associated with age-related diseases. The molecular mechanisms that regulate these processes have not been fully elucidated. We have identified a spontaneous mutant mouse line, small with kinky tail ([i]skt[/i]), that exhibits accelerated aging and age-related disease phenotypes including increased inflammation in the brain and retina, enhanced age-dependent retinal abnormalities including photoreceptor cell degeneration, neurodegeneration in the hippocampus, and reduced lifespan. By positional cloning, we identified a deletion in chondroitin sulfate synthase 1 ([i]Chsy1[/i]) that is responsible for these phenotypes in [i]skt[/i] mice. [[CHSY1]] is a member of the chondroitin N-acetylgalactosaminyltransferase family that plays critical roles in the biosynthesis of chondroitin sulfate, a glycosaminoglycan (GAG) that is attached to the core protein to form the chondroitin sulfate proteoglycan (CSPG). Consistent with this function, the [i]Chsy1[/i] mutation dramatically decreases chondroitin sulfate GAGs in the retina and hippocampus. In addition, macrophage and neutrophil populations appear significantly altered in the bone marrow and spleen of [i]skt[/i] mice, suggesting an important role for [[CHSY1]] in the functioning of these immune cell types. Thus, our study reveals a previously unidentified impact of [[CHSY1]] in the retina and hippocampus. Specifically, chondroitin sulfate (CS) modification of proteins by [[CHSY1]] appears critical for proper regulation of immune cells of the myeloid lineage and for maintaining the integrity of neuronal tissues, since a defect in this gene results in increased inflammation and abnormal phenotypes associated with age-related diseases.
|mesh-terms=* Age Factors
* Animals
* Apoptosis
* Chondroitin Sulfates
* Female
* Glucuronosyltransferase
* Inflammation
* Male
* Mice
* Mice, Inbred C57BL
* Mice, Knockout
* Multifunctional Enzymes
* Mutation
* N-Acetylgalactosaminyltransferases
* Neurodegenerative Diseases
* Neurons
* Protein Processing, Post-Translational
* Proteins
* Retinal Degeneration
|keywords=* aging
* chondroitin sulfate synthase
* hippocampus
* inflammation
* mouse
* myeloid cells
* neurodegeneration
* retina
* retinal pigment epithelium
* subretinal space
|full-text-url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6944401
}}