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Assessing age of onset and clinical symptoms over time in patients with heterozygous pathogenic DHDDS variants.
J Inherit Metab Dis
September 2024
Department of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Article Synopsis
- Mono-allelic DHDDS variants lead to a range of neurological issues, including seizures, intellectual disabilities, and movement disorders, with symptoms beginning at different ages and progressing variably among patients.
- A study of 59 patients revealed that while symptoms often start early, the onset and development can differ widely, with some experiencing the full range in childhood and others in adulthood.
- No clear links were found between symptom onset or progression and factors like patient sex or specific DHDDS variants, but 19% of patients also showed signs of autism spectrum disorder, highlighting its relevance in managing the condition.
Hydrolytic activity of yeast oligosaccharyltransferase is enhanced when misfolded proteins accumulate in the endoplasmic reticulum.
FEBS J
March 2024
Glycometabolic Biochemistry Laboratory, RIKEN Cluster for Pioneering Research (CPR), RIKEN, Saitama, Japan.
It is known that oligosaccharyltransferase (OST) has hydrolytic activity toward dolichol-linked oligosaccharides (DLO), which results in the formation of free N-glycans (FNGs), i.e. unconjugated oligosaccharides with structural features similar to N-glycans.
View Article and Find Full Text PDFMissense variant c.1460 T > C (p.L487P) enhances protein degradation of ER mannosyltransferase ALG9 in two new ALG9-CDG patients presenting with West syndrome and review of the literature.
Mol Genet Metab
August 2022
Center for Child and Adolescent Medicine, Pediatrics I, University of Heidelberg, Analysezentrum 3, Im Neuenheimer Feld 669, 69120 Heidelberg, Germany. Electronic address:
ALG9-CDG is a CDG-I defect within the group of Congenital Disorders of Glycosylation (CDG). We here describe the clinical symptoms of two new and unrelated ALG9-CDG patients, both carrying the novel homozygous missense variant c.1460 T > C (p.
View Article and Find Full Text PDFTopological and enzymatic analysis of human Alg2 mannosyltransferase reveals its role in lipid-linked oligosaccharide biosynthetic pathway.
Commun Biol
February 2022
Key Laboratory of Carbohydrate Chemistry and Biotechnology, Ministry of Education, School of Biotechnology, Jiangnan University, Wuxi, China.
N-glycosylation starts with the biosynthesis of lipid-linked oligosaccharide (LLO) on the endoplasmic reticulum (ER). Alg2 mannosyltransferase adds both the α1,3- and α1,6-mannose (Man) onto ManGlcNAc-pyrophosphate-dolichol (MGn-PDol) in either order to generate the branched MGn-PDol product. The well-studied yeast Alg2 interacts with ER membrane through four hydrophobic domains.
View Article and Find Full Text PDFcis-prenyltransferase 3 and α/β-hydrolase are new determinants of dolichol accumulation in Arabidopsis.
Plant Cell Environ
February 2022
Intercollegiate Faculty of Biotechnology of University of Gdansk and Medical University of Gdansk, University of Gdansk, Gdansk, Poland.
Dolichols (Dols), ubiquitous components of living organisms, are indispensable for cell survival. In plants, as well as other eukaryotes, Dols are crucial for post-translational protein glycosylation, aberration of which leads to fatal metabolic disorders in humans and male sterility in plants. Until now, the mechanisms underlying Dol accumulation remain elusive.
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