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Pregledni rad
Insights into complexity of congenital disorders of glycosylation
Sandra Supraha Goreta
; University of Zagreb, Faculty of Pharmacy and Biochemistry, Department of Biochemistry and Molecular Biology, Zagreb, Croatia
Sanja Dabelic
; University of Zagreb, Faculty of Pharmacy and Biochemistry, Department of Biochemistry and Molecular Biology, Zagreb, Croatia
Jerka Dumic
; University of Zagreb, Faculty of Pharmacy and Biochemistry, Department of Biochemistry and Molecular Biology, Zagreb, Croatia
| Puni tekst: engleski, pdf (258 KB) | str. 156-170 | citiraj | |
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APA 6th Edition Supraha Goreta, S., Dabelic, S. i Dumic, J. (2012). Insights into complexity of congenital disorders of glycosylation. Biochemia Medica, 22 (2), 156-170. Preuzeto s https://hrcak.srce.hr/83220 MLA 8th Edition Supraha Goreta, Sandra, et al. "Insights into complexity of congenital disorders of glycosylation." Biochemia Medica, vol. 22, br. 2, 2012, str. 156-170. https://hrcak.srce.hr/83220. Citirano 26.01.2021. Chicago 17th Edition Supraha Goreta, Sandra, Sanja Dabelic i Jerka Dumic. "Insights into complexity of congenital disorders of glycosylation." Biochemia Medica 22, br. 2 (2012): 156-170. https://hrcak.srce.hr/83220 Harvard Supraha Goreta, S., Dabelic, S., i Dumic, J. (2012). 'Insights into complexity of congenital disorders of glycosylation', Biochemia Medica, 22(2), str. 156-170. Preuzeto s: https://hrcak.srce.hr/83220 (Datum pristupa: 26.01.2021.) Vancouver Supraha Goreta S, Dabelic S, Dumic J. Insights into complexity of congenital disorders of glycosylation. Biochemia Medica [Internet]. 2012 [pristupljeno 26.01.2021.];22(2):156-170. Dostupno na: https://hrcak.srce.hr/83220 IEEE S. Supraha Goreta, S. Dabelic i J. Dumic, "Insights into complexity of congenital disorders of glycosylation", Biochemia Medica, vol.22, br. 2, str. 156-170, 2012. [Online]. Dostupno na: https://hrcak.srce.hr/83220. [Citirano: 26.01.2021.] |
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Sažetak
Biochemical and biological properties of glycoconjugates are strongly determined by the specific structure of its glycan parts. Glycosylation, the covalent attachment of sugars to proteins and lipids, is very complex and highly-coordinated process involving > 250 gene products. Deficiency of glycosylation enzymes or transporters results in impaired glycosylation, and consequently pathologi-cal modulation of many physiological processes. Inborn defects of glycosylation enzymes, caused by the specific mutations, lead to the development of rare, but severe diseases – congenital disorders of glycosylation (CDGs). Up today, there are more than 45 known CDGs. Their clinical manifestations range from very mild to extremely severe (even lethal) and unfortunately, only three of them can be effectively treated nowadays. CDG symptoms highly vary, though some are common for several CDG types but also for other unrelated diseases, especially neurological ones, leaving the possibility that many CDGs cases are under- or misdiagnosed. Glycan analysis of serum transferrin (by isoelectric focusing or more sophisticated methods, such as HPLC (high-performance liquid chromatography) or MALDI (matrix-assisted laser desorption/ionization)) or serum N-glycans (by MS), enzyme activity assays and DNA sequence analysis are the most frequently used methods for CDG screening and identification, since no specific tests are available yet. In this review we summarize the current knowledge on the clinical, biochemical and genetic characteristic of distinct CDGs, as well as existing diagnostic and therapeutic procedures, aiming to contribute to the awareness on the existence of the-se rare diseases and encourage the efforts to elucidate its genetic background, improve diagnostics and develop new strategies for their treatment.
Ključne riječi
congenital disorders of glycosylation; CDG; diagnostics; therapy
Hrčak ID: 83220
URI
https://hrcak.srce.hr/83220
Moj profil
Srce