Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid metabolism due to deficient or absent lysosomalα-galactosidase A activity. FD is pan-ethnic and the reported annual incidence of 1 in 100,000 may underestimate the true prevalence of the disease. Classically ...
For decades, great strides have been made in the field of immunometabolism. A plethora of evidence ranging from basic mechanisms to clinical transformation has gradually embarked on immunometabolism to the center stage of innate and adaptive immunomodulation. Given this, we focus on changes in immunome...
Recent re-sequencing studies have shown that this truncated form of CASP12 confers resistance to sepsis and is predominant across many populations[37–39]. Another non-sense mutation in the SAIF occurred in the OR1B1, which encodes a G-protein coupled olfactory receptor. The OR1B1 SNP leads...
C-type lectins (CTLs) are a large family of proteins with sugar-binding activity. CTLs contain an evolutionarily conserved C-type lectin domain (CTLD) that binds microbial carbohydrates in a calcium-dependent manner, thereby playing a key role in both mi
Inteins are self-splicing protein elements. They are translated as inserts within host proteins that excise themselves and ligate the flanking portions of the host protein (exteins) with a peptide bond. They are encoded as in-frame insertions within the
Sequence variants with the lowest proportion were considered as minor alleles. Analysis of minor allele proportions was performed by fitting a logistic regression model of the form logit(p) = constant + PLATFORM*VIRUS*CLASS + error, where p indicates the minor allele proportion, PLATF...
protein level positively correlates with mRNA and protein level of LSD1. These observations suggest that LSD1 and HIF-1α regulate each other and form a positive feedback loop in sustaining the hypoxic microenvironment and shifting in glucose metabolism transformation [12]. Lactate dehydrogenase (LDH...
It is noteworthy that in a study of 107 PXE patients, it was found that cardiovascular complications of the disease had relatively little impact on health-related quality of life, using the 36-item Short Form Health Survey [29]. Furthermore, it has also been suggested that heterozygous carrier...
Adaptive protein evolution leaves a signature of selection in the form of a high nonsynonymous (amino acid altering) substitution rate relative to the synonymous (silent) rate [92]. Values of ω less than one indicate purifying selection, while ω greater than one indicates positive selection. Mod...
Recent re-sequencing studies have shown that this truncated form of CASP12 confers resistance to sepsis and is predominant across many populations[37–39]. Another non-sense mutation in the SAIF occurred in the OR1B1, which encodes a G-protein coupled olfactory receptor. The OR1B1 SNP leads...