Atypical phenotypes and novel OCRL variations in southern Chinese patients with Lowe syndrome.

Background: Lowe syndrome is characterized by the presence of congenital cataracts, psychomotor retardation, and dysfunctional proximal renal tubules. This study presents a case of an atypical phenotype, investigates the genetic characteristics of eight children diagnosed with Lowe syndrome in southern China, and performs functional analysis of the novel variants.

Methods: Whole-exome sequencing was conducted on eight individuals diagnosed with Lowe syndrome from three medical institutions in southern China.

Dual-mode strategy for 2,6-dipicolinic acid detection based on the fluorescence property and peroxidase-like activity inhibition of Fe-MIL-88NH.

This work designed a fluorometric/colorimetric dual-mode sensor for detecting 2,6-dipicolinic acid (DPA) based on the blue emission property and peroxidase-like activity of Fe-MIL-88NH. The fluorescence of Fe-MIL-88NH was obviously turned off by Cu, but DPA was able to bring it back because it has a strong chelate bond with Cu. Fe-MIL-88NH also displayed high peroxidase-like activity, which accelerated the oxidation of 3,3',5,5'-tetramethylbenzidine (TMB) to the blue oxidation product (oxTMB) when HO was present.

Immobilized glucose oxidase on hierarchically porous COFs and integrated nanozymes: a cascade reaction strategy for ratiometric fluorescence sensors.

Covalent organic frameworks (COFs) with uniform porosity, good stability, and desired biocompatibility can function as carriers of immobilized enzymes. However, the obstructed pores or partially obstructed pores have hindered their applicability after loading enzymes. In this study, the hierarchical COFs were prepared as an ideal support to immobilize glucose oxidase (GOD) and obtain GOD@COF.

Atrichodermones A-C, three new secondary metabolites from the solid culture of an endophytic fungal strain, Trichoderma atroviride.

An endophytic fungal strain named Trichoderma atroviride was isolated from the bulb of Lycoris radiata. Following cultivation on rice medium, a novel 3-amino-5-hydroxy-5-vinyl-2-cyclopenten-1-one dimer, atrichodermone A (1), a new cyclopentenone derivative, atrichodermone B (2), and a new sesquiterpene, atrichodermone C (3), together with three known cyclopentenone derivatives (4-6) were isolated. Their structures were elucidated by extensive spectroscopic (UV, IR, ECD, HRESIMS, and NMR) data analyses, and absolute configurations of the new compounds were determined by comparing their experimental ECD spectra with structurally similar compounds and computational analyses of their electronic circular dichroism (ECD) spectra.

Flavichalasines A-M, cytochalasan alkaloids from Aspergillus flavipes.

Two new tetracyclic cytochalasans, flavichalasines A and B (1 and 2), three new pentacyclic cytochalasans, flavichalasines C-E (3-5), and eight new tricyclic cytochalasans, flavichalasines F-M (6-13), together with eight known analogues (14-21), were isolated from the solid culture of Aspergillus flavipes. Structures of these new compounds were elucidated on the basis of extensive spectroscopic analyses including 1D, 2D NMR and HRESIMS data. Their absolute configurations were determined by comparison of their experimental ECD with either computed ECD or experimental ECD spectrum of known compound.

Chaephilones A and B, Two New Azaphilone Derivatives Isolated from Chaetomium globosum.

Two new azaphilone derivatives, chaephilones A (1) and B (2), were isolated from the fungus Chaetomium globosum, together with four structurally related analogs 3 - 6. The structures of 1 and 2 were elucidated by comprehensive spectroscopic analyses including HR-ESI-MS and NMR. The known compounds were identified as chaetomugilin Q (3), chaetomugilin D (4), 11-epichaetomugilin A (5), and chaetomugilin S (6) by comparing their NMR data and optical rotation values with those reported.

Nine new cytochalasan alkaloids from Chaetomium globosum TW1-1 (Ascomycota, Sordariales).

Chemical investigation on the methanol extract of Chaetomium globosum TW1-1, a fungus isolated from the common pillbug (Armadillidium vulgare), has resulted in the isolation of nine new highly oxygenated cytochalasan alkaloids, armochaetoglobins S-Z (1 and 3-9) and 7-O-acetylarmochaetoglobin S (2), together with eight structurally related known analogues (10-17). Their structures and absolute configurations were elucidated by spectroscopic analyses. Among them, compound 2 presents to be the first member of chaetoglobosin family with an acetyl group, and compounds 3 represents the first chaetoglobosin characterized by an 2',3'-epoxy-indole moiety.