Results 91 to 100 of about 217,786 (288)

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Strong violation of the competitive exclusion principle [PDF]

, 2011
Bacteria and plants are able to form population waves as a result of their consumer behaviour and propagation. A soliton-like interpenetration of colliding population waves was assumed but not proved earlier. Here we show how and why colliding population
Lev V. Kalmykov, Vyacheslav L. Kalmykov
core   +1 more source

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

A Systematic Comparison of Alpha‐Synuclein Seed Amplification Assays for Increasing Reproducibility

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Seed amplification assays (SAAs) enable ultrasensitive detection of misfolded α‐synuclein across biofluids and tissues. Yet, heterogeneity in protocols limits cross‐study comparability and clinical translation. Here, we review α‐synuclein SAA methods and their performance across various biological matrices.
Manuela Amaral‐do‐Nascimento, Daniela F. Santos, Tuane C. R. G. Vieira, Tiago F. Outeiro   +3 more
wiley   +1 more source

Printed Integrated Logic Circuits Based on Chitosan‐Gated Organic Transistors for Future Edible Systems

Advanced Functional Materials, EarlyView.
Edible electronics needs integrated logic circuits for computation and control. This work presents a potentially edible printed chitosan‐gated transistor with a design optimized for integration in circuits. Its implementation in integrated logic gates and circuits operating at low voltage (0.7 V) is demonstrated, as well as the compatibility with an ...
Giulia Coco, Valerio Francesco Annese, Valerio Galli, Ilaria Penna, Debora Russo, Marina Veronesi, Rita Scarpelli, Stefania Sabella, Mario Caironi   +8 more
wiley   +1 more source

3D ultrastructural analysis of α‐granule, dense granule, mitochondria, and canalicular system arrangement in resting human platelets

Research and Practice in Thrombosis and Haemostasis, 2020
Background State‐of‐the‐art 3‐dimensional (3D) electron microscopy approaches provide a new standard for the visualization of human platelet ultrastructure.
Irina D. Pokrovskaya, Shilpi Yadav, Amith Rao, Emma McBride, Jeffrey A. Kamykowski, Guofeng Zhang, Maria A. Aronova, Richard D. Leapman, Brian Storrie   +8 more
doaj   +1 more source

Formation of Stable Amorphous Calcium Phosphate and Collagen Assemblies by a Versatile Spray‐Drying Approach

Advanced Functional Materials, EarlyView.
Amorphous calcium phosphate (ACP) microparticles with long‐term and thermal stability are prepared with or without collagen using a scalable one‐pot spray‐drying process. Under simulated physiological conditions, they crystallize into biomimetic bone mineral and, when combined with collagen, form extrudable, fibrillar bone‐like 3D constructs.
Camila Bussola Tovani, Nessma Bennaceur, Celina Benkhellat, Tristan Georges, Clara Doisneau, Vaskar Sardhalia, Thierry Azaïs, Flora Lemaire, Halima Kerdjoudj, Mohamed Selmane, Capucine Sassoye, Marie Albéric, Cédric Boissière, Nadine Nassif   +13 more
wiley   +1 more source

Self-organized spatial targeting of contractile actomyosin rings for synthetic cell division

Nature Communications
A key challenge for bottom-up synthetic biology is engineering a minimal module for self-division of synthetic cells. Actin-based cytokinetic rings are considered a promising structure to produce the forces required for the controlled excision of cell ...
María Reverte-López, Nishu Kanwa, Yusuf Qutbuddin, Viktoriia Belousova, Marion Jasnin, Petra Schwille   +5 more
doaj   +1 more source

Timing of ESCRT-III protein recruitment and membrane scission during HIV-1 assembly

eLife, 2018
The Endosomal Sorting Complexes Required for Transport III (ESCRT-III) proteins are critical for cellular membrane scission processes with topologies inverted relative to clathrin-mediated endocytosis.
Daniel S Johnson, Marina Bleck, Sanford M Simon   +2 more
doaj   +1 more source

tRNA ligase structure reveals kinetic competition between non-conventional mRNA splicing and mRNA decay. [PDF]

, 2019
Yeast tRNA ligase (Trl1) is an essential trifunctional enzyme that catalyzes exon-exon ligation during tRNA biogenesis and the non-conventional splicing of HAC1 mRNA during the unfolded protein response (UPR).
Peschek, Jirka, Walter, Peter
core