Congenital disorders of glycosylation: alpha-dystroglycanopathies
Authors:
L. Zdražilová; N. Ondrušková; T. Honzík; H. Hansíková
Authors place of work:
Laboratoř pro studium mitochondriálních poruch, Klinika dětského a dorostového lékařství, 1. lékařská
; fakulta Univerzity Karlovy a Všeobecná fakultní nemocnice v Praze, Ke Karlovu 2, Praha 2, 128
Česká republika
08
Published in the journal:
Klin. Biochem. Metab., 25, 2017, No. 3, p. 96-100
Summary
Alpha-dystroglycanopathies are rare inherited diseases that belong to the group of congenital disorders of glycosylation, and due to their clinical symptoms they also fall into the category of hereditary muscular dystrophies. They are caused by deficient glycosylation of alpha-dystroglycan’s mucin domain, resulting in reduced affinity of this protein to the laminin G-domain of extracellular matrix ligands. Alpha-dystroglycan is most represented in muscles, but it is also expressed in nerve cells, eyes, epithelium and other organs and tissues. The most common forms of alpha-dystroglycanopathies manifest with muscular dystrophy, ocular malformations and defects of central nervous system. To this date, mutations in about 20 different genes have been described to cause alpha-dystroglycanopaties.
Keywords:
alpha-dystroglycan, alpha-dystroglycanopathy, congenital disorders of glycosylation.
Zdroje
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Štítky
Clinical biochemistry Nuclear medicine Nutritive therapistČlánok vyšiel v časopise
Clinical Biochemistry and Metabolism
2017 Číslo 3
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