Results 111 to 120 of about 177,922 (258)

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

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

Toward Chromoselective Transformations in Biological Systems: Perspectives and Challenges

Angewandte Chemie International Edition, EarlyView.
Controlling biological systems with small‐molecule chromophores has evolved into a powerful strategy and is applied from chemical biology to medicine. However, the complexity of in vivo systems cannot be matched by a single wavelength of light. Developing methods to combine and individually control multiple chromophores is crucial.
Nadja A. Simeth
wiley   +1 more source

Paradoxical Expression of Ionotropic Glutamate Receptors in Leucocytes. [PDF]

Clin Rev Allergy Immunol
Clanchy FIL, Williams RO, Stone TW.
europepmc   +1 more source

Late‐Stage Functionalization of Peptides on the Solid Phase

Angewandte Chemie International Edition, EarlyView.
Peptide modifications are essential to control pharmacodynamic and pharmacokinetic properties of peptide drugs. Consequently, strategies that allow for efficient and rapid incorporation of non‐canonical modifications into peptides in parallel formats are highly sought after.
Marius Werner, Truc Lam Pham, Franziska Thomas   +2 more
wiley   +1 more source

Endothelium glutamate receptors in brain pathology. [PDF]

Front Pharmacol
Pirozhkov SV, Vukolova MN, Bulgakova VV, Lutokhina YA, Bolevich SB, Sobolevsky AI, Yelshanskaya MV.   +6 more
europepmc   +1 more source

The role of ionotropic glutamate receptors in Alzheimer's disease: A scientometric analysis. [PDF]

J Alzheimers Dis
Liu Y, Zhong R, Li Q, Wang Y, Zhang J, Kou Z.   +5 more
europepmc   +1 more source

A New Paradigm for Understanding the Rheology and Processability of Poly(p‐Phenylene Terephthalamide) Liquid‐Crystalline Solutions

Journal of Applied Polymer Science, EarlyView.
Kevlar is traditionally modeled as a rigid‐rod polymer, yet rheological behavior deviates from this assumption. The review introduces a novel “twist‐tie” entanglement theory for aramid polymer chains in the nematic liquid crystal state, providing a molecular explanation for deviations from rigid‐rod models. Understanding twist‐tie entanglement dynamics
Emma Egli, Jacob L. Pretko, Christopher W. Seay, Steven R. Lustig   +3 more
wiley   +1 more source

Polysialic Acid Modulation of Glutamate Receptors and Synaptic Mechanisms Underlying Neuronal Plasticity. [PDF]

NeuroSci
Chowdhury KU, Bhattacharya S, Uddin MR, Reed MN, Lee SG, Suppiramaniam V.   +5 more
europepmc   +1 more source

A critical reappraisal of the carotid sinus and carotid bulb: Distinguishing neurohistological function from vascular geometry

The Anatomical Record, EarlyView.
This review redefines the carotid bulb (CB) as a variable geometric dilation shaped by hemodynamics and the carotid sinus (CS) as a conserved neurohistological baroreceptor field. Distinguishing these entities clarifies a century of anatomical confusion and links geometry, neurohistology, and clinical interpretation within a unified framework ...
Răzvan Costin Tudose, Nicolae Radu, Mugurel Constantin Rusu   +2 more
wiley   +1 more source