HIBM is caused by mutations in the gene encoding the key enzyme
in sialic acid synthesis, UDP - GlcNAc 2 - epimerase / ManNAc kinase, which in turn leads to sialic acid deficiency.
Recent studies have shown multiple differences between humans and apes
in sialic acid (Sia) biology, including Siglecs (Sia - recognizing - Ig - superfamily lectins).
Not exact matches
«We discovered that Neu1, a protein nicknamed after «neuraminidase 1,» turns the absorption of sugar «on» or «off»
in body cells, by regulating the amount of
sialic acid on the surface of cells,» Dr. Pshezhetsky explains.
Therapy with Ace - ER led to dose - dependent increases
in serum
sialic acid levels.
In previous work, Anthony's group and others have found that the anti-inflammatory effect of high - dose IVIG can be attributed to a minor fraction of antibodies to which a glycan called
sialic acid has been attached to their Fc region.
The treatment consists of providing N - acetylmannosamine, which forms
sialic acid
in the body.
Dr. Huizing also studies other
sialic acid - related diseases, including sialuria, a progressive disease
in which patients produce excess
sialic acid.
Without adequate supplies of
sialic acid, progressive muscle degeneration (or myopathy) sets
in.
In ISSD and Salla disease, other sialic acid - related conditions, a transport malfunction causes sialic acid to accumulate in lysosome
In ISSD and Salla disease, other
sialic acid - related conditions, a transport malfunction causes
sialic acid to accumulate
in lysosome
in lysosomes.
Sialic acid synthesis is tightly regulated; defects in this pathway cause a variety of disorders, including hereditary inclusion body myopathy (HIBM), sialuria, infantile sialic acid storage disease (ISSD), and Salla di
Sialic acid synthesis is tightly regulated; defects
in this pathway cause a variety of disorders, including hereditary inclusion body myopathy (HIBM), sialuria, infantile
sialic acid storage disease (ISSD), and Salla di
sialic acid storage disease (ISSD), and Salla disease.
fad genes, the actP - acs operon, and putative
sialic acid uptake and metabolism genes (t1787 - t1790) were upregulated
in all strains following bile exposure, which may represent adaptation to the small intestine environment.
The cellular localization of the polymers was confirmed by subcellular fractionation of the cells, followed by digestion with endoglycosidase H (Figure 2C and Supplemental Figure 3C), an enzyme that removes N - linked glycans still
in the high mannose ER form but does not affect oligosaccharide chains after the addition of
sialic acid
in the Golgi apparatus.
[5] Varki A, Gagneux P. Multifarious roles of
sialic acids
in immunity.
Adding plausibility, «both autoantigens related to Hashimoto disease [thyroid peroxidase and / or thyroglobulin] are glycoproteins and N - linked carbohydrates containing
sialic acids have been detected
in both molecules.»
Presumably free
sialic acid is made available to such pathogens by other, sialidase - expressing bacteria living
in the same niche, or... by host sialidases that are activated
in the course of inflammation.