H Stibler's research while affiliated with Karolinska University Hospital and other places

... They included increased endogenous acceptors for galactosyltransferase (Femandez-Briera et aL, 1990), impaired receptor-mediated endocytosis (Tuma et aL, 1981; Matsuda etal., 1988). How does ingested alcohol impair cellular glycosyltransferases? Evidence of a parallel alcoholinduced impairment of glycoconjugates in brain included a double amount of exposed galactose and Af-acetylgalactosamine in synaptic membranes of mice (Goldstein etal., 1983), decreased contents of gangliosides in mouse brain (Klemm et al., 1988) and decreased contents of sialic acid in synaptosomal glycolipids and glycoproteins (Stibler etal., 1985). Effects of alcohol on the developing fetus include inhibition of embryogenesis, cell migration and differentiation, and these were reviewed recently in the context of the role of gangliosides in the structure and function of cell membranes (Hungund and Mahadik, 1993). ...

... Some types of CDG cannot be identified through IEF analysis because in special cases sialylation is not altered, for example: MOGS-CDG, SLC35C1-CDG, in alterations of one of the two GDP-fucose transporters of AG, and in TUSC3-CDG. This, coupled with the laboriousness and time required by the IEF technique, has led to the need for costly techniques such as high-performance liquid chromatography (HPLC), capillary zone electrophoresis (CZE), and mass spectrometry (MS) in the last two decades [56][57][58][59][60][61]. 7 Tf polymorphisms and variations in Fe 3+ content can also produce anomalous patterns in IEF. ...

... The first CDG case was reported in the 1980s by Helena Stibler and Jaak Jaeken 121 . The case presented with severe neurological manifestations including psychomotor retardation, ataxia and seizures. ...

... 5-HTOL displays high sensitivity and specificity and appears uninfluenced by age, gender, liver diseases, or medications other than disulfiram (Beck and Helander, 2003). 5-HTOL is expressed as a ratio to 5-hydroxyindole-3-acetic acid (5-HIAA), another metabolite of serotonin, an attribute that reduces false positives, especially from foods rich in serotonin such as bananas, pineapples, and tomatoes (Borg et al., 1992). This ratio measurement is important because increases in serotonin from these foods elevate the serotonin metabolites 5-HTOL and 5-HIAA equally. ...

... The iron-binding transferrin has a series of attached carbohydrate groups. Carbohydrate-deficient transferrin (CDT) isoforms are elevated by high alcohol intake and the measurement of these has recently been introduced into routine clinical use (6). CDT has in several studies been found to be at least as sensitive and specific as GGT and MCV for detecting alcohol abuse among men (7). ...

... Acute alcohol has been shown to decrease sialylated glycoconjugates in studies from other laboratories. In one study, alcohol decreased contents of sialic acid in synaptosomal gangliosides and glycoproteins (91). In another study, alcohol impaired synthesis of sialoglycoprotein in stomach mucosa (87)). ...

... Studies in the mid-1970s found11 that, after sustained heavy alcohol consumption, serum transferrin became abnormally glycosylated. [9] This elevated transferrin fraction after abnormal glycosylation was named carbohydrate-deficient transferrin (CDT) [10][11][12][13] and is used as a biomarker to identify persistent heavy drinking and to monitor abstinence during treatment. [15], [16] Compared with the use of conventional human serum samples, the use of Dried blood spots (DBS) samples from blood cards for CDT screening has many advantages [14], [15] , including a simple and minimally invasive sampling procedure, easy storage of the samples, minimal transportation requirements, and reduced risk of infection with some of the most risky blood-borne infections (HIV, hepatitis, etc.) [16] . ...

... Diagnosis of each patient had previously been confirmed by isoelectric focusing of transferrin [17], by Sanger sequencing of the PMM2 gene and in some patients additionally by measuring PMM2 activity. Data analysis was approved by the local ethics committee (Ethikkommission der Ärztekammer Westfalen-Lippe, No. 2019-199-f-S). ...

... CDG-Ia, also known as PMM2 deficiency, is a rare autosomal recessive genetic disease primarily caused by mutations in the phosphomannomutase 2 (PMM2) gene [5]. The PMM2 gene encodes an enzyme called phosphomannomutase 2, PMM2, which plays a critical role in catalyzing the conversion of mannose-6-phosphate into mannose-1phosphate. ...

... Mutant progenitors appear more dependent on endogenous EGFR signaling to undergo fast proliferation, whereas the activation of EGFR had opposite effects in mutant and WT GE progenitors, suggesting that levels of EGFR expression affect the response to EGF. That EGFR signaling is an important component of the regulation of APs is consistent with the observation that in rodents, EGFR ligands are a constant component of the cerebrospinal fluid (Van Setten et al., 1999). Consistent with the regional expression of EGFR ligands, in the postnatal brain EGFR activation is crucial for the regulation of the differentiation of Epen cells from RG progenitors (Abdi et al., 2019). ...