A zebrafish model of congenital disorders of glycosylation with phosphomannose isomerase deficiency reveals an early opportunity for corrective mannose supplementation

Individuals with congenital disorders of glycosylation (CDG) have recessive mutations in genes required for protein N-glycosylation, resulting in multi-systemic disease. Despite the well-characterized biochemical consequences in these individuals, the underlying cellular defects that contribute to C...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: Chu, Jaime, Mir, Alexander, Gao, Ningguo, Rosa, Sabrina, Monson, Christopher, Sharma, Vandana, Steet, Richard, Freeze, Hudson H., Lehrman, Mark A., Sadler, Kirsten C.
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: The Company of Biologists Limited 2013
Θέματα:
Research Article
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3529342/
https://ncbi.nlm.nih.gov/pubmed/22899857
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1242/dmm.010116
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