Enzymbestimmungen in Erythrocyten bei Kindern mit Down-Syndrom

Characterization of a null mutation in ace‐1, the gene encoding class A acetylcholinesterase in the nematode Caenorhabditis elegans

“…Only one mutation has been identified so far in human AChE [6] that replaces codon 322 CAC (His) by AAC (Asn). This mutation has no effect on enzyme activity [7] but the wild-type sequence is the YT1 blood group antigen and the variant with Asn 322 is the YT2 antigen [6]. A number of mutations in the locus ace of Drosophila have been reported [8].…”

Placenta proteome analysis from Down syndrome pregnancies for biomarker discovery

“…3). Of these, alpha-1-antitrypsin, 23 alpha-crystallin, 24 spolipoprotein A-I, 25 cathepsin D, 26 heat shock protein beta-1, 27 malate dehydrogenase, 28 myelin protein, 29 peroxiredoxin-2, 30 peroxiredoxin-6, 31 serum amyloid P-component, 32 T-complex protein 1, 33 transthyretin, 34 vimentin 35 and VDAC2 36 have been reported as Down syndrome markers in previous studies. In contrast, Ankyrin repeat and SOCS box protein 17, annexin A2, annexin A5, ataxin-3, calreticulin, chorionic somatomammotropin hormone, cyclophilin B, DNA repair protein XRCC2, envoplakinlike protein, eosinophil lysophospholipase, flavin reductase, G protein-coupled receptor kinase 4, galectin-1, interferon-induced guanylate-binding protein 2, cytoskeletal 8/18, keratin-like protein KRT222, killer cell lectin-like receptor, lactoylglutathione lyase, LMW phosphotyrosine protein phosphatase, MAGUK p55, microspherule protein 1, mitochondrial RNase P protein 2, profilin-1, protein disulfide-isomerase, reticulocalbin-1, protein kinase Nek7, sorcin, SPRED2 and vasoactive intestinal polypeptide receptor 1 have not been previously reported as Down syndrome markers to the best of our knowledge.…”

Growing Points in Cell Pathology

“…Particularly puzzling have been the studies of enzymes in the formed elements of the blood, and especially the leukocytes (Table 2). These have usually been found to be increased (see Penrose & Smith 1966, Crome & Stem 1967, Rosner et al 1966 1967, Bartels & Kruse 1968), including enzymes whose structural genes are known to be on chromosomes other than chromosome 21. This, and other facts Table 1 The direction of the arrows indicates where the concentration of a given substance has been found raised, lowered, unchanged or only sometimes raised or lowered (slanting arrows) in Down's syndrome subjects, compared with suitable controls.…”