Congenital Disorders of Deficiency in Glycosaminoglycan Biosynthesis

Mizumoto, Shuji; Yamada, Shuhei

doi:10.3389/fgene.2021.717535

Cited by 31 publications

(23 citation statements)

References 269 publications

(350 reference statements)

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“…The irregular expression of CS or GAGs causes many diseases, including tumors, viral infections, skeletal disorders, skeletal dysplasia, chondrodysplasia, multiple exostoses, Ehlers-Danlos syndrome, heart and kidney defects, immune deficiencies, glial scar (form after brain injury), and neurological abnormalities [ 71 ]. Therefore, it is expected that if CS expression can retain or reverse, it would affect the progress of respective diseases.…”

Section: Prospective Pharmacological Applicationmentioning

confidence: 99%

A Concise Review of Extraction and Characterization of Chondroitin Sulphate from Fish and Fish Wastes for Pharmacological Application

Urbi

Azmi

Ming

et al. 2022

CIMB

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Chondroitin sulphate (CS) is one of the most predominant glycosaminoglycans (GAGs) available in the extracellular matrix of tissues. It has many health benefits, including relief from osteoarthritis, antiviral properties, tissue engineering applications, and use in skin care, which have increased its commercial demand in recent years. The quest for CS sources exponentially increased due to several shortcomings of porcine, bovine, and other animal sources. Fish and fish wastes (i.e., fins, scales, skeleton, bone, and cartilage) are suitable sources of CS as they are low cost, easy to handle, and readily available. However, the lack of a standard isolation and characterization technique makes CS production challenging, particularly concerning the yield of pure GAGs. Many studies imply that enzyme-based extraction is more effective than chemical extraction. Critical evaluation of the existing extraction, isolation, and characterization techniques is crucial for establishing an optimized protocol of CS production from fish sources. The current techniques depend on tissue hydrolysis, protein removal, and purification. Therefore, this study critically evaluated and discussed the extraction, isolation, and characterization methods of CS from fish or fish wastes. Biosynthesis and pharmacological applications of CS were also critically reviewed and discussed. Our assessment suggests that CS could be a potential drug candidate; however, clinical studies should be conducted to warrant its effectiveness.

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Section: Prospective Pharmacological Applicationmentioning

confidence: 99%

A Concise Review of Extraction and Characterization of Chondroitin Sulphate from Fish and Fish Wastes for Pharmacological Application

Urbi

Azmi

Ming

et al. 2022

CIMB

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show abstract

“…4 ). Interestingly, defects in GAG biosynthesis usually portray clinical features in bone or cartilage, ligaments, or subepithelial layers ( 158 ). For example, dysregulation of HS chain polymerization is a key feature in multiple hereditary exostoses (MHE), an autosomal dominant skeletal disorder hallmarked by the formation of benign cartilage-capped tumors.…”

Section: Glycosaminoglycan Regulation In Human Diseasementioning

confidence: 99%

Spatiotemporal diversity and regulation of glycosaminoglycans in cell homeostasis and human disease

Basu

Patel

Nicholson

et al. 2022

American Journal of Physiology-Cell Physiology

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Glycosaminoglycans (GAGs) are long, linear polysaccharides that are ubiquitously expressed on the cell surface and in the extracellular matrix of all animal cells. These complex carbohydrates play important roles in many cellular processes and have been implicated in many disease states, including cancer, inflammation, and genetic disorders. GAGs are among the most complex molecules in biology with enormous information content and extensive structural and functional heterogeneity. GAG biosynthesis is a non-template driven process facilitated by a large group of biosynthetic enzymes that have been extensively characterized over the past few decades. Interestingly, the expression of the enzymes and the consequent structure and function of the polysaccharide chains can vary temporally and spatially during development and under certain pathophysiological conditions, suggesting their assembly is tightly regulated in cells. Due to their many key roles in cell homeostasis and disease, there is much interest in targeting the assembly and function of GAGs as a therapeutic approach. Recent advances in genomics and GAG analytical techniques have pushed the field and generated new perspectives on the regulation of mammalian glycosylation. This review highlights the spatiotemporal diversity of GAGs and the mechanisms guiding their assembly and function in human biology and disease.

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“…Homozygous mutations in XYLT2 cause spondyloocular syndrome, which exhibits skeletal defects, as well as ocular, cardiac, auditory system defects, and learning difficulties in patients with this disorder (Munns et al, 2015;Taylan et al, 2016;Taylan et al, 2017;Umair et al, 2018). The different clinical manifestations of XYLT1 and XYLT2 disorders, suggest potential functional distinctions between the two enzymes including: use of distinct core protein substrates, differential spatiotemporal expression, and inability to compensate for each other (Mizumoto and Yamada, 2021). These fascinating issues, as well as how signaling pathways are affected as a consequence of these XYLT mutations that lead to the devastating phenotypes, remain unexplored in these human hereditary disorders.…”

Section: Xylosylation-initiation Of Cs Chainsmentioning

confidence: 99%

Roles of Chondroitin Sulfate Proteoglycans as Regulators of Skeletal Development

Schwartz

Domowicz

2022

Front. Cell Dev. Biol.

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The extracellular matrix (ECM) is critically important for most cellular processes including differentiation, morphogenesis, growth, survival and regeneration. The interplay between cells and the ECM often involves bidirectional signaling between ECM components and small molecules, i.e., growth factors, morphogens, hormones, etc., that regulate critical life processes. The ECM provides biochemical and contextual information by binding, storing, and releasing the bioactive signaling molecules, and/or mechanical information that signals from the cell membrane integrins through the cytoskeleton to the nucleus, thereby influencing cell phenotypes. Using these dynamic, reciprocal processes, cells can also remodel and reshape the ECM by degrading and re-assembling it, thereby sculpting their environments. In this review, we summarize the role of chondroitin sulfate proteoglycans as regulators of cell and tissue development using the skeletal growth plate model, with an emphasis on use of naturally occurring, or created mutants to decipher the role of proteoglycan components in signaling paradigms.

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Congenital Disorders of Deficiency in Glycosaminoglycan Biosynthesis

Cited by 31 publications

References 269 publications

A Concise Review of Extraction and Characterization of Chondroitin Sulphate from Fish and Fish Wastes for Pharmacological Application

A Concise Review of Extraction and Characterization of Chondroitin Sulphate from Fish and Fish Wastes for Pharmacological Application

Spatiotemporal diversity and regulation of glycosaminoglycans in cell homeostasis and human disease

Roles of Chondroitin Sulfate Proteoglycans as Regulators of Skeletal Development

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