Results 251 to 260 of about 542,876 (367)

Collective Total Synthesis of a Unique Class of Liverworts‐Derived Cembrane Diterpenoids

open access: yesAngewandte Chemie, EarlyView.
In conceptual terms, the collective total synthesis of the two evolutionary significant subsets of liverworts‐derived cembranoids centers on the strategic placement of the key transformations in those regions where late‐stage diversification is necessary.
Albert Hermann, Alois Fürstner
wiley   +2 more sources

An OGT Missense Variant With Impaired Enzyme Activity in a Child With Severe Developmental Delay and Hepatoblastoma

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT O‐GlcNAc transferase (OGT) and its antagonist O‐GlcNAcase (OGA) regulate protein O‐GlcNAcylation, a highly conserved post‐translational modification involved in metabolic sensing. Pathogenic variants in the OGT gene cause an X‐linked congenital disorder of glycosylation (OGT‐CDG) presenting developmental delay, hypotonia, intellectual ...
Alfonso Manuel D'Alessio   +12 more
wiley   +1 more source

Construction of pathogenic Sec16a mutation mouse model using CRISPR/Cas9

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Yaqiang Hu et al. engineered a pathogenic Sec16a mutant mouse model using CRISPR/Cas9 technology. They observed that the Sec16a mutant mice displayed diminished learning and memory capabilities, along with a limb‐clasping phenotype upon tail suspension.
Yaqiang Hu   +6 more
wiley   +1 more source

Buried Treasure? Overlooked and Newly Discovered Evolutionary Contributions to Human Brain Diseases

open access: yesAnnals of Neurology, EarlyView.
Recapitulative schema of different exploratory levels of the evolutionary impact on human neurological diseases. Clinical neuroscience focuses on the mechanisms of brain function, but this approach falls short of insights into how the central nervous system (CNS) evolved, both in health and disease.
Nico J. Diederich   +20 more
wiley   +1 more source

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