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Deep learning-based assessment of missense variants in the gene presented with bilateral congenital cataract.
BMJ Open Ophthalmol
January 2025
Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai, China
Objective: We compared the protein structure and pathogenicity of clinically relevant variants of the gene with AlphaFold2 (AF2), Alpha Missense (AM), and ThermoMPNN for the first time.
Methods And Analysis: The sequences of clinically relevant Cog4 missense variants (one novel identified p.Y714F and three pre-existing p.
The Multi-targeted Effect of Fascaplysin on the Proliferation and Dedifferentiation of Schwann Cells Inhibits Peripheral Nerve Degeneration by Blocking CDK4/6 and Androgen Receptor.
Exp Neurobiol
December 2024
Department of Anatomy and Cell Biology, Dong-A University, College of Medicine, Busan 49201, Korea.
Peripheral neurodegenerative diseases induced by irreversible peripheral nerve degeneration (PND), such as diabetic peripheral neuropathy, have a high prevalence worldwide and reduce the quality of life. However, there is no agent effective against the irreversible PND. After peripheral nerve injury, Schwann cells play an important role in regulating PND.
View Article and Find Full Text PDFA comparative template-switching cDNA approach for HTS-based multiplex detection of three viruses and one viroid commonly found in apple trees.
Sci Rep
January 2025
Institute for Biosecurity and Microbial Forensics (IBMF), Oklahoma State University, Stillwater, OK, USA.
Exclusion is a keystone of integrated pest management to prevent the introduction of pathogens. U.S.
View Article and Find Full Text PDFThe mitochondriotropic antioxidants AntiOxBEN and AntiOxCIN are structurally-similar but differentially alter energy homeostasis in human skin fibroblasts.
Biochim Biophys Acta Bioenerg
January 2025
CNC-Center for Neuroscience and Cell Biology, University of Coimbra, Coimbra, Portugal; CIBB - Centre for Innovative Biomedicine and Biotechnology, University of Coimbra, Coimbra, Portugal.
Mitochondrial dysfunction and increased reactive oxygen species (ROS) generation play an import role in different human pathologies. In this context, mitochondrial targeting of potentially protective antioxidants by their coupling to the lipophilic triphenylphosphonium cation (TPP) is widely applied. Employing a six‑carbon (C) linker, we recently demonstrated that mitochondria-targeted phenolic antioxidants derived from gallic acid (AntiOxBEN) and caffeic acid (AntiOxCIN) counterbalance oxidative stress in primary human skin fibroblasts by activating ROS-protective mechanisms.
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