Publications by authors named "Marjan Kersten"

Article Synopsis
  • - Congenital disorders of glycosylation type 1 (CDG-I) are genetic conditions involving 27 defects that mostly result in vague neurological issues, with a key biochemical sign being the lack of complete N-glycans found on transferrin.
  • - Researchers used high-resolution mass spectrometry to analyze plasma N-glycans in 111 CDG-I patients and identified specific glycan markers for certain types of CDG, including a novel N-tetrasaccharide for ALG1-CDG.
  • - Combining glycomics profiling with sequencing of candidate genes using single-molecule molecular inversion probes (smMIPs) successfully solved 78% of previously unsolved cases, showcasing an effective method for identifying
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Article Synopsis
  • Genomics methods have greatly enhanced the understanding of Mendelian disorders, especially when combined with high-throughput functional-omics technologies, leading to better identification of genetic variants in families with recessive inheritance.
  • In a study of 99 individuals with abnormal Golgi glycosylation, 31 cases underwent whole-exome sequencing, revealing a known defect in 15 individuals, while unique glycomics signatures helped identify four patients with shared genetic markers.
  • Affected siblings had mutations in the SLC10A7 gene, leading to conditions like amelogenesis imperfecta and skeletal dysplasia, with studies in zebrafish and fibroblasts showcasing the gene's crucial role in bone mineralization and glycoprotein transport.
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