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Basic Science and Pathogenesis.
Alzheimers Dement
December 2024
Emory University School of Medicine, Atlanta, GA, USA.
Background: Circular RNAs (circRNAs) play multifaceted roles to precisely control expression of broad gene networks. These highly stable molecules are often accumulated in the mammalian brain and thought to serve as "memory molecules" that govern the long process of aging. Mounting evidence demonstrated circRNA dysregulation in the postmortem brains of Alzheimer's disease (AD).
View Article and Find Full Text PDFA novel variant c.7104 + 6T > A of linked to autosomal recessive congenital ichthyosis verified by minigene splicing assay.
Front Pediatr
December 2024
Department of Obstetrics and Gynaecology, The First Affiliated Hospital of Ningbo University, Ningbo, Zhejiang, China.
Background: Autosomal recessive congenital ichthyosis (ARCI) is a group of genetic skin disorders characterized by abnormal keratinization, leading to significant health issues and reduced quality of life. ARCI encompasses harlequin ichthyosis (HI), congenital ichthyosiform erythroderma (CIE), and lamellar ichthyosis (LI). While all ARCI genes are linked to LI and CIE, HI is specifically associated with severe mutations in the gene.
View Article and Find Full Text PDFAn ultra-conserved poison exon in the Tra2b gene encoding a splicing activator is essential for male fertility and meiotic cell division.
EMBO J
January 2025
Newcastle University Biosciences Institute (NUBI), Central Parkway, Newcastle University, NE1 3BZ, Newcastle upon Tyne, UK.
The cellular concentrations of splicing factors (SFs) are critical for controlling alternative splicing. Most serine and arginine-enriched (SR) protein SFs regulate their own concentration via a homeostatic feedback mechanism that involves regulation of inclusion of non-coding 'poison exons' (PEs) that target transcripts for nonsense-mediated decay. The importance of SR protein PE splicing during animal development is largely unknown despite PE ultra-conservation across animal genomes.
View Article and Find Full Text PDFIntegrative determination of atomic structure of mutant huntingtin exon 1 fibrils implicated in Huntington disease.
Nat Commun
December 2024
Department of Theory and Bio-Systems, Max Planck Institute of Colloids and Interfaces, 14476, Potsdam, Germany.
Neurodegeneration in Huntington's disease (HD) is accompanied by the aggregation of fragments of the mutant huntingtin protein, a biomarker of disease progression. A particular pathogenic role has been attributed to the aggregation-prone huntingtin exon 1 (HTTex1), generated by aberrant splicing or proteolysis, and containing the expanded polyglutamine (polyQ) segment. Unlike amyloid fibrils from Parkinson's and Alzheimer's diseases, the atomic-level structure of HTTex1 fibrils has remained unknown, limiting diagnostic and treatment efforts.
View Article and Find Full Text PDFAlternative splicing: Therapeutic target for vasculopathy in diabetic complications.
Life Sci
December 2024
Department of Plastic Surgery, Affiliated Hospital of Xuzhou Medical University, Xuzhou, China. Electronic address:
It is becoming increasingly evident that diabetic vascular complications seriously threaten human health. The most prevalent microvascular complications include kidney disease, retinal disease, cardiovascular diseases and amputation. Conventional treatments can only relieve the progression of the diseases, and is no longer appropriate for the long-term management of diabetic patients.
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