3 results match your criteria: "UCD School of Medicine University College Dublin Dublin Ireland.[Affiliation]"
Abnormal -glycan fucosylation, galactosylation, and sialylation of IgG in adults with classical galactosemia, influence of dietary galactose intake.
JIMD Rep
September 2021
NIBRT GlycoScience Group, National Institute for Bioprocessing, Research and Training Dublin Ireland.
Article Synopsis
- Classical galactosemia (CG) is a rare metabolic disorder caused by a deficiency in the enzyme galactose-1-phosphate uridyltransferase, leading to long-term complications such as cognitive and neurological issues, which are not well understood.
- This study analyzed glycosylation biomarkers in 95 CG patients and found significant differences in glycan traits compared to controls, particularly in the homozygous c.563A-G/p.Gln188Arg cohort of 49 patients.
- The results indicated that dietary galactose intake could positively influence cognitive functioning, as higher galactose intake was correlated with improved intelligence scores and certain glycan profiles in CG patients.
Excess fibroblast growth factor 23 (FGF23), excess PTH, and an increase in extracellular calcium cause hypophosphatemia by lowering the maximum renal phosphate reabsorption threshold (TmP/GFR). We recently reported two cases of X-linked hypophosphatemia (XLH) with severe tertiary hyperparathyroidism who had normalization of TmP/GFR upon being rendered hypoparathyroid following total parathyroidectomy, despite marked excess in both C-terminal FGF23 (cFGF23) and intact FGF23 (iFGF23). We explored the effects of FGF23, PTH, and calcium on TmP/GFR in a cross-sectional study ( = 74) across a spectrum of clinical cases with abnormalities in TmP/GFR, PTH, and FGF23.
View Article and Find Full Text PDFPlatelets are regulated by extracellular cues that impact on intracellular signaling. The endothelium releases prostacyclin and nitric oxide which stimulate the synthesis of cyclic nucleotides cAMP and cGMP leading to platelet inhibition. Other inhibitory mechanisms involve immunoreceptor tyrosine-based inhibition motif-containing receptors, intracellular receptors and receptor desensitization.
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