Expanding the Genotypic and Phenotypic Spectrum of -Related Conditions: Three More Cases.

Introduction: Pathogenic variants in the gene are linked to a spectrum of syndromes that exhibit partial clinical overlap. Hemizygous loss-of-function variants are considered lethal in males, while heterozygous loss-of-function variants generally result in oro-facial-digital syndrome type 1. A reported phenotype, Simpson-Golabi-Behmel syndrome type 2, was published once but remains controversial, with many specialists questioning its validity and arguing about its continued listing in the OMIM database.

Sialylation reactions: Expanding the C-5 effect to phosphate leaving groups.

With the expanding use of phosphates as leaving groups in sialylations, little remains known about the C-5 effect towards their reactivity and stereoselectivity in the presence of a range of acceptors, and in different solvents. Herein we report the comparison between sialyl phosphate donors bearing N-acetyloxazolidinone and trifluoroacetamido functionalities at C-5. Excellent results and complete stereoselectivity were observed in several sialylations, but the outcome was influenced by the nature of the solvent and/or glycosyl acceptor.

Ferric Chloride Promoted Glycosidation of Alkyl Thioglycosides.

Reported herein is a new reaction for glycosylation with thioglycosides in the presence of iron(III) chloride. Previously, FeCl was used for the activation of thioglycosides as a Lewis acid co-promoter paired with NIS. In the reported process, although 5.

Synthesis of regioselectively protected building blocks of benzyl β-d-glucopyranoside.

Reported herein is the synthesis of benzyl β-d-glucopyranoside and its derivatives that provide straightforward access to 3,4-branched glycans. Modes to diversify the synthetic intermediates via introduction of various temporary protecting groups have been demonstrated.

SFox imidates as versatile glycosyl donors for chemical glycosylation.

Described herein is a continuation of our studies dedicated to the development of novel classes of leaving groups based on - and -imidates. The main focus of the study presented herein is the synthesis of novel 3,3-difluoro-3-indol-2-ylthio (SFox) imidates and their application as glycosyl donors in chemical glycosylation. Being thioimidates, these compounds are more stable than -imidates albeit much more reactive than conventional alkyl/arylthio glycosides.