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Friedreich Ataxia: An (Almost) 30-Year History After Gene Discovery.
Neurol Genet
February 2025
Department of Neurology and Neurosurgery, McGill University, Montreal, Canada.
In the late 1800s, Nikolaus Friedreich first described "degenerative atrophy of the posterior columns of the spinal cord," noting its connection to progressive ataxia, sensory loss, and muscle weakness, now recognized as Friedreich ataxia (FRDA). Renewed interest in the disease in the 1970s and 80s by the Quebec Cooperative Group and by Anita Harding led to the development of clinical diagnostic criteria and insights into associated biochemical abnormalities, although the primary defect remained unknown. In 1988, Susan Chamberlain mapped FRDA's location on chromosome 9.
View Article and Find Full Text PDFTyrosine-modified tilapia skin antioxidant peptides and their hydroxyl radical quenching activities.
J Mater Chem B
January 2025
State Key Laboratory of Food Nutrition and Safety, Key Laboratory of Food Quality and Healthy of Tianjin, College of Food Science and Engineering, Tianjin University of Science and Technology, Tianjin, 300457, P. R. China.
In an antioxidant peptide study, the number and position of active amino acid sites, as well as the peptides' conformation, are found to be crucial for scavenging hydroxyl radicals (˙OH). Herein, ˙the OH scavenging activity of tilapia pentapeptide (P1, YGDQY) and its analogs including P2 (YYYGDQY), P3 (YYGDQYY) and P4 (YYGPDQYY) was investigated. The results showed that the tyrosine's amount, location and the peptides' conformation played important roles in determining peptides' scavenging activity (34.
View Article and Find Full Text PDFStructural and functional analysis reveals the catalytic mechanism and substrate binding mode of the broad-spectrum endolysin Ply2741.
Virulence
December 2025
National Key Laboratory of Agricultural Microbiology, Hubei Hongshan Laboratory, Huazhong Agricultural University, Wuhan, China.
The emergence of antibiotic-resistant bacteria has attracted interest in the field of endolysins. Here, we analyzed the diversity of endolysins and identified a new endolysin, Ply2741, that exhibited broad-spectrum bactericidal activity. Our results demonstrated that Ply2741 could effectively eradicate multidrug-resistant gram-positive pathogens and .
View Article and Find Full Text PDFDifferentially localizing isoforms of the migraine component calcitonin gene-related peptide (CGRP), in the mouse trigeminal ganglion: βCGRP is translated but, unlike αCGRP, not sorted into axons.
J Headache Pain
January 2025
Sensory Biology Unit, Translational Research Center, Rigshospitalet, Glostrup, Denmark.
Objective: The neuropeptide calcitonin gene-related peptide (CGRP) has been established to be a key signaling molecule in migraine, but little is known about the differences between the two isoforms: αCGRP and βCGRP. Previous studies have been hampered by their close similarity, making the development of specific antibodies nearly impossible. In this study we sought to test the hypothesis that αCGRP and βCGRP localize differently within the neurons of the mouse trigeminal ganglion (TG), using αCGRP knock out (KO) animals.
View Article and Find Full Text PDFPrimary myoepithelial carcinoma of the tibia: a close clinicoradiological mimicker of osteosarcoma.
BMJ Case Rep
January 2025
Pathology and Lab Medicine, AIIMS Jodhpur, Jodhpur, Rajasthan, India.
Myoepithelial tumours are rare and distinct entities with uncertain histogenesis. They occur primarily in major salivary glands and soft tissue around the head and neck. Bony involvement predominantly occurs in facial bones.
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