Study of a Novel NUMB Loss-of-Function Mutation Leading to Hyperuricemia and Gout

NUMB Gene Variant: A Novel Mechanism in Gout Development Background Gout is one of the most common forms of inflammatory arthritis worldwide, primarily triggered by the persistent elevation of serum uric acid levels, known as hyperuricemia. Hyperuricemia leads to the deposition of urate crystals, resulting in inflammation of joints and other tissue...

The Landscape of Drug Sensitivity and Resistance in Sarcoma

Background Introduction This study explores the landscape of individual drug sensitivity and resistance in sarcoma patients. Sarcomas are a diverse group of tumors originating from mesenchymal tissue, including types such as osteosarcoma and soft tissue sarcoma, mostly affecting young people. Although the annual incidence of sarcomas is relatively ...

Phosphorylation of Piezo1 at a Single Residue, Serine-1612, Regulates Its Mechanosensitivity and In Vivo Mechanotransduction Function

This article is a biomedical research paper authored by scholars such as Zhang Tingxin, Bi Cheng, and Li Yiran, published on November 6, 2024, in the journal “Neuron.” The research was led by a team from the Tsinghua University-Peking University Center for Life Sciences, exploring the regulatory mechanism of phosphorylation modification of the mech...

Ferroptosis Triggered by Spliceosomal GTPase EFTUD2 Deficiency Leads to Purkinje Cell Degeneration

Depletion of EFTUD2 Triggers Ferroptosis-Induced Degeneration of Cerebellar Purkinje Cells Background and Motivation The cerebellum plays a crucial role in motor coordination and higher cognitive functions, with the health of cerebellar Purkinje cells (PCs) being essential for maintaining cerebellar function. Gene regulation based on alternative sp...

The Role of Motor Cortex in Striatal Motor Dynamics and Execution of Skilled and Unskilled Actions

Exploring the Crucial Role of the Motor Cortex in Basal Ganglia and Dynamic Motor Control Research Background and Motivation The role of the motor cortex (Motor Cortex, M1) in motor generation and regulation has long been a significant topic in neuroscience. The interaction between M1 and the striatum in selecting and executing goal-directed action...