AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Deletions of the 3q26.33q27.2 region appear to correlate with a distinct phenotype, although there are few reported cases. Here, we present seven previously unreported individuals carrying de novo 3q27 deletions (under 5 Mb), which include the AP2M1 (adaptor‐related protein complex 2, mu‐1 subunit) gene and summarize data from 12 previously ...
Russell Gear +16 more
wiley +1 more source
Impact of Glycoclustering on Stiffening of MUC5AC Peptides Revealed by High‐Efficiency Synthesis
Angewandte Chemie, EarlyView.Peptides featuring a previously unattained degree of glycoclustering were obtained by fully automated solid‐phase synthesis in 1,3‐dioxolane/Tween‐20 and diselenide–selenoester ligation. Circular Dichroism (CD) and Pulsed Electron‐Electron Double Resonance (PELDOR) measurements of densely GalNAcylated MUC5AC multi‐tandem repeat peptides provided ...
Arseniy Galashov +9 more
wiley +2 more sources
Glycosylation of N6-benzyladenine by fusion procedure using bis-(p-nitrophenyl)hydrogen phosphate.
, 1976 Takeshi Hashizume, Kozo Yoshida
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Further studies on the effect of the collagen triple-helix formation on the hydroxylation of lysine and the glycosylations of hydroxylysine in chick-embryo tendon and cartilage cells [PDF]
, 1977 Aarne Oikarinen +2 more
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A Drosophila model of prion disease and its metabolic changes in the brain
Animal Models and Experimental Medicine, EarlyView.We developed a Drosophila model for prion disease, and flies were capable of expressing the hamster prion protein (HaPrP) under the control of the GAL4/UAS system. The model exhibited some characteristics of the disease in mammals and displayed alterations in protein, sphingolipid, and carbohydrate metabolism. Preliminary applications have demonstrated
Dongdong Wang +14 more
wiley +1 more source
Angewandte Chemie, EarlyView.Several processes are reported that enable the rapid diversification of bridged nucleoside analogues (NAs) starting from a common and readily prepared fluorohydrin. Also, several clinically relevant bridged nucleosides are now prepared in as few as three synthetic steps, creating new opportunities for examining structure‐activity relationships within ...
Cohan Huxley +7 more
wiley +2 more sources
Transcriptomics as a predictor of biopharmaceutically favourable glycan profiles
Frontiers in Cell and Developmental BiologyN-glycosylation plays a crucial role in defining the pharmacological properties and efficacy of therapeutic proteins, commonly referred to as biologics. The inherent complexity and lack of a templated process in glycosylation leads to a wide variation in
Ben West +7 more
doaj +1 more source
The effect of tunicamycin on the glycosylation of lactating-rabbit mammary glycoproteins [PDF]
, 1979 Brian K. Speake, David A. White
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Glycosylation and rheumatic disease
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1998 Rheumatoid arthritis (RA) and other rheumatic diseases are associated with a significant defect in the galactosyltransferase enzyme that results in a profound change in the galactosylation of immunoglobulin G. This change has been demonstrated to be integrally associated with pathogenic mechanisms associated with inflammation in RA.
openaire +5 more sources
Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot–Marie–Tooth Disease
Annals of Neurology, EarlyView.Objective Charcot–Marie–Tooth (CMT) disease is a heterogeneous group of genetic neuropathies, with >90 genes identified. Several aminoacyl‐tRNA synthetases have been linked to CMT. DARS2, encoding the mitochondrial aspartyl‐tRNA synthetase, has been typically associated with leukoencephalopathy with brainstem and spinal cord involvement and lactate ...
Berta Estévez‐Arias +23 more
wiley +1 more source