A New Case of Mitochondrial RNA Helicase SUPV3L1-Associated Neurodegenerative Disease: Ataxia, Spasticity, Optic Atrophy, and Skin Hypopigmentation (ASOASH).

Background: The gene encodes ATP-dependent RNA helicase SUPV3L1, which is a part of the mitochondrial degradosome complex or SUV3. SUPV3L1 unwinds secondary structures of mitochondrial RNA (mtRNA) and facilitates the degradation of mtRNA molecules. A nonsense homozygous variant in the gene was recently associated with mitochondrial disease.

ABA and Melatonin: Players on the Same Field?

In plants, abscisic acid (ABA) and melatonin (MT) are conventionally treated as molecules mitigating stress responses. To understand the mechanisms of ABA-MT interplay, we examined the effects of ABA and MT treatment in ABA and MT loss-of-function mutants of exposed to high light (HL) stress. ABA constantly suppressed encoding N-acetylserotonin methyltransferase in the context of differential responses of other MT biosynthesis genes in both the wild type (WT) and mutants.

Musashi-2 (MSI2) regulation of DNA damage response in lung cancer.

Lung cancer is one of the most common types of cancer worldwide. Non-small cell lung cancer (NSCLC), typically caused by and driver mutations, represents the majority of all new lung cancer diagnoses. Overexpression of the RNA-binding protein (RBP) Musashi-2 (MSI2) has been associated with NSCLC progression.

PIP4K2B Protein Regulation by NSD1 in HPV-Negative Head and Neck Squamous Cell Carcinoma.

Head and neck squamous cell carcinoma (HNSCC) ranks among the most prevalent global cancers. Despite advancements in treatments, the five-year survival rate remains at approximately 66%. The histone methyltransferase NSD1, known for its role in catalyzing histone H3 lysine 36 di-methylation (H3K36me), emerges as a potential oncogenic factor in HNSCC.