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Transcobalamin 2 orchestrates monocyte proliferation and TLR4-driven inflammation in systemic lupus erythematosus via folate one-carbon metabolism.
Front Immunol
June 2024
Department of Dermatology, China-Japan Friendship Hospital, Beijing, China.
Background: SLE is a complex autoimmune disease with deleterious effects on various organs. Accumulating evidence has shown abnormal vitamin B12 and one-carbon flux contribute to immune dysfunction. Transcobalamin II (TCN2) belongs to the vitamin B12-binding protein family responsible for the cellular uptake of vitamin B12.
View Article and Find Full Text PDFA novel regulatory interplay between atypical B12 riboswitches and uORF translation in Mycobacterium tuberculosis.
Nucleic Acids Res
July 2024
Institute for Structural and Molecular Biology, University College London, Gower Street, WC1E 6BT London, UK.
Vitamin B12 is an essential cofactor in all domains of life and B12-sensing riboswitches are some of the most widely distributed riboswitches. Mycobacterium tuberculosis, the causative agent of tuberculosis, harbours two B12-sensing riboswitches. One controls expression of metE, encoding a B12-independent methionine synthase, the other controls expression of ppe2 of uncertain function.
View Article and Find Full Text PDFIdentification of novel pathogenic variants of CUBN in patients with isolated proteinuria.
Mol Genet Genomic Med
March 2024
Department of Nephrology, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Center), Tongji Medical College, Huazhong University of Science & Technology, Wuhan, China.
Background: Although proteinuria is long recognized as an independent risk factor for progressive chronic kidney diseases, not all forms of proteinuria are detrimental to kidney function, one of which is isolated proteinuria caused by cubilin (CUBN)-specific mutations. CUBN encodes an endocytic receptor, initially found to be responsible for the Imerslund-Gräsbeck syndrome (IGS; OMIM #261100) characterized by a combined phenotype of megaloblastic anemia and proteinuria.
Methods: After analyzing their clinical and pathological characterizations, next-generation sequencing for renal disease genes or whole-exome sequencing (WES) was performed on four patients with non-progressive isolated proteinuria.
Reference intervals and stability of haptocorrin and holotranscobalamin in Danish children and elderly.
Clin Chim Acta
June 2023
Department of Clinical Biochemistry, Aarhus University Hospital, Aarhus, Denmark; Institute for Clinical Medicine, Health, Aarhus University, Aarhus, Denmark.
Background: Haptocorrin (HC) and holotranscobalamin (holoTC) carry vitamin B12 (B12) in the circulation and can be useful biomarkers for evaluating B12 status. The concentration of both proteins depends on age, but data on reference intervals for children and the elderly are sparse. Similarly, not much is known about the effect of preanalytical factors.
View Article and Find Full Text PDFFast Local Alignment of Protein Pockets (FLAPP): A System-Compiled Program for Large-Scale Binding Site Alignment.
J Chem Inf Model
October 2022
Department of Biochemistry, Indian Institute of Science, Bangalore 560012, Karnataka, India.
Protein function is a direct consequence of its sequence, structure, and the arrangement at the binding site. Bioinformatics using sequence analysis is typically used to gain a first insight into protein function. Protein structures, on the other hand, provide a higher resolution platform into understanding functions.
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