Publications by authors named "Anke P Willems"
A one-year pilot study comparing direct-infusion high resolution mass spectrometry based untargeted metabolomics to targeted diagnostic screening for inherited metabolic diseases.
Front Mol Biosci
November 2023
Article Synopsis
- Early diagnosis of inherited metabolic diseases (IMDs) is crucial for effective treatment and better patient outcomes, but the variety of these diseases complicates timely diagnosis.
- Untargeted metabolomics, using advanced techniques like direct infusion high-resolution mass spectrometry (DI-HRMS), shows promise for diagnosing IMDs but remains underused in clinical settings compared to traditional methods.
- A year-long study found that while targeted assays and untargeted metabolomics provided strong correlations for many metabolites, DI-HRMS identified additional metabolic disorders in some patients that targeted assays had missed, highlighting its potential for broader diagnostic applications.
Article Synopsis
- NGLY1-CDDG is a rare genetic disorder caused by a defective enzyme, and so far, patients have mostly been identified through genetic sequencing methods due to the lack of available biochemical markers.
- Researchers in this study used advanced mass spectrometry on dried blood samples from NGLY1-CDDG patients to search for small-molecule biomarkers, comparing their findings to samples from healthy individuals and those with other diseases.
- They discovered that aspartylglycosamine was significantly elevated in the blood of NGLY1-CDDG patients, suggesting it could serve as the first biochemical marker for diagnosing this disorder.
Activity of N-acylneuraminate-9-phosphatase (NANP) is not essential for de novo sialic acid biosynthesis.
Biochim Biophys Acta Gen Subj
October 2019
Background: Sialylation of glycoproteins and glycolipids is important for biological processes such as cellular communication, cell migration and protein function. Biosynthesis of CMP-sialic acid, the essential substrate, comprises five enzymatic steps, involving ManNAc and sialic acid and their phosphorylated forms as intermediates. Genetic diseases in this pathway result in different and tissue-restricted phenotypes, which is poorly understood.
View Article and Find Full Text PDF-Acetylglucosamine (-GlcNAc) transferase (OGT) regulates protein -GlcNAcylation, an essential and dynamic post-translational modification. The -GlcNAc modification is present on numerous nuclear and cytosolic proteins and has been implicated in essential cellular functions such as signaling and gene expression. Accordingly, altered levels of protein -GlcNAcylation have been associated with developmental defects and neurodegeneration.
View Article and Find Full Text PDFGenetic defects in the hexosamine and sialic acid biosynthesis pathway.
Biochim Biophys Acta
August 2016
Background: Congenital disorders of glycosylation are caused by defects in the glycosylation of proteins and lipids. Classically, gene defects with multisystem disease have been identified in the ubiquitously expressed glycosyltransferases required for protein N-glycosylation. An increasing number of defects are being described in sugar supply pathways for protein glycosylation with tissue-restricted clinical symptoms.
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