Publications

Hepatic glucose production rises with the histological severity of metabolic dysfunction-associated steatohepatitis

Silvia Sabatini et al.

Cell Rep Med. 2024 Nov 19;5(11):101820. doi: 10.1016/j.xcrm.2024.101820.

Metabolic dysfunction-associated steatotic liver disease (MASLD) and steatohepatitis (MASH) are associated with a high prevalence of type 2 diabetes (T2D). Individuals with MASLD exhibit insulin resistance (IR) and hyperglycemia, but it is unclear whether hepatic glucose production (HGP) is increased with MASLD severity. We evaluated HGP in a cohort of histologically characterized individuals with MASL/MASH using stable isotope infusion (6,6-²H(2)-glucose, U-²H(5)-glycerol) and liver-specific...

Chondroitin Sulfate-Coated Heteroduplex-Molecular Spherical Nucleic Acids

Toni Laine et al.

Chembiochem. 2025 Mar 15;26(6):e202400908. doi: 10.1002/cbic.202400908. Epub 2024 Nov 28.

Molecular Spherical Nucleic Acids (MSNAs) are atomically uniform dendritic nanostructures and potential delivery vehicles for oligonucleotides. The radial formulation combined with covalent conjugation may hide the oligonucleotide content and simultaneously enhance the role of appropriate conjugate groups on the outer sphere. The conjugate halo may be modulated to affect the delivery properties of the MSNAs. In the present study, [60]fullerene-based molecular spherical nucleic acids, consisting...

Comparative analysis of the postadmission and antemortem oropharyngeal and rectal swab microbiota of ICU patients

Annamaria Petrilla et al.

Sci Rep. 2024 Nov 8;14(1):27179. doi: 10.1038/s41598-024-78102-1.

Shotgun metabarcoding was conducted to examine the microbiota in a total of 48 samples from 12 critically ill patients, analyzing samples from both the oropharynx and rectum. We aimed to compare their postadmission microbiota, characterized as moderately dysbiotic, with the severely dysbiotic antemortem microbiota associated with patients' deaths. We found that, compared with postadmission samples, patient antemortem swab samples presented moderate but not significantly decreased diversity...

The Proteomics Standards Initiative Standardized Formats for Spectral Libraries and Fragment Ion Peak Annotations: mzSpecLib and mzPAF

Joshua Klein et al.

Anal Chem. 2024 Nov 19;96(46):18491-18501. doi: 10.1021/acs.analchem.4c04091. Epub 2024 Nov 8.

Mass spectral libraries are collections of reference spectra, usually associated with specific analytes from which the spectra were generated, that are used for further downstream analysis of new spectra. There are many different formats used for encoding spectral libraries, but none have undergone a standardization process to ensure broad applicability to many applications. As part of the Human Proteome Organization Proteomics Standards Initiative (PSI), we have developed a standardized format...

Expanding the Molecular and Clinical Phenotype of Patients With De Novo Variants in KIF5C: A Six Patient Case Series

Sara Gracie et al.

Am J Med Genet A. 2025 Mar;197(3):e63927. doi: 10.1002/ajmg.a.63927. Epub 2024 Nov 6.

Heterozygous de novo loss of function variants in the motor domain of KIF5C are associated with a neurodevelopmental disorder characterized by infantile-onset epilepsy, frontal cortical dysplasia, and developmental delays including motor and speech impairments. Previously, only three missense variants in KIF5C were known to be pathogenic. We identified an additional six patients with significant developmental delays with heterozygous de novo variants in the KIF5C gene (Glu237Val, Thr93Ile,...

Multiplatform metabolomic interlaboratory study of a whole human stool candidate reference material from omnivore and vegan donors

Abraham Kuri Cruz et al.

Metabolomics. 2024 Nov 4;20(6):125. doi: 10.1007/s11306-024-02185-0.

CONCLUSION: This collaborative exercise emphasized the broad chemical survey possible with multi-technique approaches. Community engagement is essential for the evaluation and characterization of common materials designed to facilitate comparability and ensure data quality underscoring the value of determining current practices, challenges, and progress of a field through interlaboratory studies.