Sentence examples for in cdg from inspiring English sources
Using morpholinos to block expression of MPI, an enzyme that is essential for glycosylation, the authors demonstrate that zebrafish mpi morphants display pathologies that are comparable to those present in CDG individuals carrying MPI mutations (MPI-CDG) – including depleted LLO and mannose 6-phosphate levels, increased embryonic mortality and phenotypic abnormalities.
Our paper is the first comprehensive study on the phenotype of DK1-CDG and the first successful organ transplantation in CDG syndrome.
Hepatic dysfunction is also a common feature in CDG patients [1].
In addition, it can be seen that where there are accumulations of truncated DLO in the different cell lines (eg. Man2GlcNAc2-PP-dolichol in CDG Ia cells, Man5GlcNAc2-PP-dolichol in CDG Ie cells and Man7GlcNAc2-PP-dolichol in CDG Ig cells) there are increases in the corresponding fOSGN2-P species.
Analyses of Drosophila Gfr mutants suggested that Notch fucosylation is reduced, and that a reduction in Notch signaling might contribute to the pathogenesis in CDG IIc [6].
In CDG I, partial blocks in different steps of the DLO biosynthetic pathway lead to accumulations of truncated DLO species [11].
Our studies reveal that the PL emission spectrum in CDGs can be tuned by controlled hydrogen and oxygen treatments.
However, the efficacy of the medical treatment in CDG-I patients is completely unknown.
Bleeding and thromboses have been reported even in the same patient in other subtypes of CDG like in CDG-Ia [ 28].
In conclusion, we experimentally demonstrated here that 'natural COG mutants', found in CDG-II patients, allow for a better understanding of the role of the full COG complex and of the individual subunits and subcomplexes in tethering Golgi vesicles.
The convenience of using a simple diagnostic test that determines the N-glycosylation status of serum transferrin by isoelectric focusing is perhaps the reason for this over-representation of N-glycosylation pathway components in CDGs (Jaeken et al., 1984; Stibler and Jaeken, 1990; Hennet, 2012).
