Results 161 to 170 of about 14,556 (244)

Monoallelic POLR3A Variants Cause Early‐Onset Peripheral Neuropathy

Annals of Neurology, EarlyView.
Objective Biallelic variants in genes encoding the RNA polymerase III complex (Pol III) cause a spectrum of neurological disorders primarily affecting the central nervous system. Monoallelic variants have been reported in the POLR3B subunit only, associated with neurodevelopmental disorder, epilepsy, and peripheral neuropathy.
Luiza L. P. Ramos, Jevin M. Parmar, Robin Wijngaard, Bianca R. Grosz, Tamas Lazar, Ligia Mateiu, Steve Vucic, Kishore R. Kumar, Dennis Yeow, Laura I. Rudaks, Lonneke de Boer, Annemarie de Vreugd, David A. Koolen, Thatjana Gardeitchik, Anita Cairns, Krishnan Iyengar, Fernando Kok, Fernanda Barbosa Figueiredo, Alzira Alves de Siqueira Carvalho, Luiz S. Mageste Barbosa, Rodrigo Rezende Arantes, Tyler Rehbein, Jordan E. Bontrager, Elizabeth P. Wood, Janet E. Sowden, Gavin Monahan, Meutia Kumaheri, Ivy Cuijt, Melina Ellis, Gonzalo Perez‐Siles, Elyshia McNamara, Ronald van Beek, Celine B. Meijers, Ivaylo Tournev, Stephan Zuchner, Shoshana J. Wodak, Clara D. M. van Karnebeek, Nigel Laing, Liana N. Semcesen, David A. Stroud, David N. Herrmann, Velina Guergueltcheva, Marina L. Kennerson, Machteld M. Oud, Gianina Ravenscroft, Ayse Candayan, Albena Jordanova   +46 more
wiley   +1 more source

A Wagner–Meerwein‐Like Rearrangement Generates a Vinyl Group in the Biosynthesis of the Polychlorinated Lipopeptides Fischerazoles

Angewandte Chemie, EarlyView.
The fischerazoles, unusual cyanobacterial chlorinated lipopeptides are reported. During their biosynthesis, a linear fatty acyl‐acyl carrier protein (ACP) precursor is rearranged through the action of the S‐adenosyl‐methionine (SAM)‐dependent methyltransferase FshF, to generate a pendant vinyl group.
Sandra A. C. Figueiredo, Kathleen Abt, Konrad Viehrig, Peter J. Jervis, Teresa P. Martins, Iñaki Lacomba, Chuhan Li, Daniele Castagnolo, Pedro N. Leão   +8 more
wiley   +2 more sources

Molecular Detection of <i>Tannerella forsythia</i> in the Synovial Fluid of a Patient with Knee Osteoarthritis: A Case Report Suggesting Oral-Joint Translocation. [PDF]

Diagnostics (Basel)
Milić I, Plečko M, Vražić D, Delimar D, Puhar I.   +4 more
europepmc   +1 more source

Gut–Brain Axis Modulation by Short‐Chain Fatty Acids Exerts Disease‐Modifying Effects in a Murine Model of Drug‐Resistant Epilepsy

Annals of Neurology, EarlyView.
Objective Drug‐resistant epilepsy (DRE) remains a clinical challenge, as therapies modifying disease trajectory are lacking. Increasing evidence implicates gut microbiota dysbiosis in epilepsy pathophysiology, with short‐chain fatty acids (SCFAs) emerging as key microbial metabolites with neuroprotective and anti‐inflammatory properties.
Akash A. Bera, Rossella Di Sapia, Greta Volpedo, Sneha Anand, Eray Sahin, Pasquale Baldassarre, Francesca Buffelli, Andrea Petretto, Chiara Lavarello, James D. Mills, Gabriele Cattaneo, Ilaria Craparotta, Eleonora Aronica, Antonella Riva, Pasquale Striano, Annamaria Vezzani, Teresa Ravizza   +16 more
wiley   +1 more source

An Enzymatic Platform for Late‐Stage (Radio)isotope Labelling of Oligonucleotides With Methyltransferases

Angewandte Chemie, EarlyView.
State‐of‐the‐art synthesis of radiolabelled oligonucleotides involves multi‐step synthesis with high costs, extended timelines and significant radioactive waste generation. Herein, a dual‐methyltransferase platform enables late‐stage, site‐specific labelling, overcoming these limitations through reduced costs, faster turnaround and minimal radioactive ...
Christopher R. B. Swanson, Ulrich Kauhl, Martin R. Edelmann, Florian P. Seebeck   +3 more
wiley   +2 more sources

Foreign Body-Associated <i>Eikenella corrodens</i> Aspiration Pneumonia in an Elderly Immunocompetent Adult: A Case Report. [PDF]

Int Med Case Rep J
Trudić A, Stojšić V.
europepmc   +1 more source

Nanodiamonds as Bioactive Platforms to Modulate Microbial, Mammalian, and Vertebrate Systems

Advanced NanoBiomed Research, EarlyView.
Nanodiamonds (NDs) are biocompatible and antibacterial nanomaterials that support mammalian cell growth while inhibiting bacterial pathogens. NDs showed strong antibacterial activity, with Escherichia coli being more sensitive than Staphylococcus aureus. At 10 mg/mL, both bacteria exhibited ~8% viability.
Aaqil Rifai, Ayushi Priyam, Ahmed Rashed, Gebreselassie Addisu Tilaye, Kamal Poudel, Aaron G. Schultz, Richard J. Williams   +6 more
wiley   +1 more source

Unraveling A4GALT Mechanism and Its Modulation With Adamantyl‐Galactosylceramide Analogues: Advancing Fabry Disease Therapeutic Strategies

Angewandte Chemie, EarlyView.
A 310‐helix‐mediated conformational switch promotes a front‐face SNi‐like catalysis by human A4GALT. Mechanism‐guided design identifies AdaGalCer as a selective modulator of globotriaosylceramide (Gb3) biosynthesis, opening a clear route toward new Fabry disease therapeutics.
Nicky de Koster, Òscar Vidal‐Gironès, Rowan de Graaf, Ken Kok, Lindsey T. Lelieveld, Jackelien Hoogervorst, Maria J. Ferraz, José Pablo Rivas‐Fernández, Rob F. Lammers, Herman S. Overkleeft, Johannes M. F. G. Aerts, Rolf G. Boot, Carme Rovira, Marta Artola   +13 more
wiley   +2 more sources

Pneumonia with BALF Detection of <i>Tropheryma whipplei</i> and <i>Chlamydia psittaci</i> by Targeted Next-Generation Sequencing: A Case Report. [PDF]

Infect Drug Resist
Li X, Feng Q.
europepmc   +1 more source

Rewriting Tumor Immunity With Bacterial Membrane Vesicles: A Versatile and Potent Therapeutic Strategy

Advanced NanoBiomed Research, EarlyView.
Bacterial membrane vesicles (BMVs) emerge as promising platforms for cancer immunotherapy owing to their intrinsic adjuvant properties and tunable cargo delivery capabilities. Their ability to modulate the tumor microenvironment, enhance antitumor immune responses, and support personalized therapeutic strategies highlights their growing potential as ...
Md Sifat Rahi, Md Mijanur Rahman, Asma Talukder, Urooj Yousaf Virk, Jennifer C. Wilson, Nigel McMillan, Ming Q. Wei   +6 more
wiley   +1 more source