An unstable variant of GAP43 leads to neurodevelopmental deficiency.

Growth-associated protein 43 (GAP43) is a membrane-associated phosphoprotein predominantly expressed in the nervous systems, and controls axonal growth, branching, and pathfinding. While the association between GAP43 and human neurological disorders have been reported, the underlying mechanisms remain largely unknown. We performed whole exome sequencing on a patient with intellectual disability (ID), neurodevelopmental disorders, short stature, and skeletal abnormalities such as left-right difference in legs and digital deformities, and identified a heterozygous missense variation in the GAP43 gene [NM_001130064.

A nationwide questionnaire study evaluated kidney injury associated with Beni-koji tablets in Japan.

Red yeast rice, traditionally used in Asian cuisine and increasingly marketed as a dietary supplement for cholesterol management, has recently been linked to kidney dysfunction in Japan. In late 2023 to early 2024, multiple cases involving specific Beni-koji (red yeast rice) tablets from three different Beni-koji preparations, prompted a safety reevaluation. Although citrinin, a known nephrotoxin of red yeast rice, was not produced by the implicated strains, new safety concerns emerged.

From non-coding to coding: The importance of long non-coding RNA translation in de novo gene birth.

Recent emerging evidence demonstrates that some long non-coding RNAs (lncRNAs) can indeed be translated into functional polypeptides. These discoveries are pivotal for understanding de novo gene birth, the process by which new genes evolve from previously non-genic regions. In this review, we first introduce key methods, such as Ribo-seq and translation initiation site detection by translation complex analysis, for identifying coding sequences within lncRNAs and highlight examples of functional polypeptides derived from lncRNAs across species.

Clinicopathological features and prognosis of breast cancer with low HER2 status evaluated by fluorescence hybridization.

Although trastuzumab deruxtecan improves the prognosis of patients with HER2-low breast cancer, the characteristics and prognostic value of low HER2 status remains to be elucidated. A prospective database of patients with clinical stage I to III breast cancer who underwent surgery between September 2012 and October 2022 at Teikyo University Hospital (Tokyo, Japan) were analyzed. HER2 was evaluated using fluorescence hybridization assay, and HER2-low and HER2-negative was defined as HER2/CEP17 ratio ≥1.

Sequential Photocatalysis for Homologative Diversification of α-Amino Acids to β-Amino Acids Via Phosphonium Ylide Linchpin Strategy.

β-Amino acids serve as crucial building blocks for a broad range of biologically active molecules and peptides with potential as peptidomimetics. While numerous methods have been developed for the synthesis of β-amino acids, most of them require multistep preparation of specific reagents and substrates, which limits their synthetic practicality. In this regard, a homologative transformation of abundant and readily available α-amino acids would be an attractive approach for β-amino acid synthesis.