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SEC24C deficiency causes trafficking and glycosylation abnormalities in an epileptic encephalopathy with cataracts and dyserythropoeisis

Author(s): Bögershausen N; Cavdarli B; Nagai T; Milev MP; Wolff A; Mehranfar M; Schmidt J; Choudhary D; Gutiérrez-Gutiérrez Ó; Cyganek L; Saint-Dic D; Zibat A; Köhrer K; Wollenweber TE; Wieczorek D; Altmüller J; Borodina T; Kaçar D; Haliloglu G; Li ...

As a major component of intracellular trafficking, the coat protein complex II (COPII) is indispensable for cellular function during embryonic development and throughout life. The four SEC24 proteins (A-D) are essential COPII components involved in cargo selection and packaging. A human disorder ...

Article GUID: 40131364


Membranous translation platforms in the chloroplast of Chlamydomonas reinhardtii

Author(s): Sun Y; Bakhtiari S; Valente-Paterno M; Jiang H; Zerges W;

A small genome in chloroplasts encodes many of the polypeptide subunits of the photosynthetic electron transport complexes embedded in the membranes of thylakoid vesicles in the chloroplast stroma and synthesized by ribosomes of the bacterial-like genetic system of this semiautonomous organelle. While thylakoid membranes are sites of translation, evidence ...

Article GUID: 40116843


Shared Dispersal Patterns but Contrasting Levels of Gene Flow in Two Anadromous Salmonids Along a Broad Subarctic Coastal Gradient

Author(s): Bouchard R; Babin C; Normandeau E; Xuereb A; Boulanger F; Coxon A; Diamond S; Fireman R; Lameboy J; Louttit N; Natawapineskum G; Okimaw D; Torio D; Varty S; Moore JS; Fraser D; Bernatchez L;

Dispersal is a highly variable trait influenced by life history and ecological factors, affecting gene flow when dispersers successfully reproduce. Anadromous salmonids, with their diverse migratory strategies and ecological traits, serve as an ideal model for studying dispersal evolution, showca ...

Article GUID: 40108992


The Present and Future of Adult Entertainment: A Content Analysis of AI-Generated Pornography Websites

Author(s): Lapointe VA; Dubé S; Rukhlyadyev S; Kessai T; Lafortune D;

Fueled by advances in artificial intelligence (AI), the adult entertainment industry is undergoing a significant transformation. AI-generated pornography-or AI porn-is reshaping how people create and consume sexually explicit content, progressively offering rapid, mass access to large quantities of interactive and highly customizable experiences. Yet, des ...

Article GUID: 40032709


Discriminative properties of rewarding electrical brain stimulation

Author(s): Pacheco-Gomez BL; Zepeda-Ruiz WA; Velazquez-Lopez D; Shizgal P; Velazquez-Martinez DN;

Rewarding electrical brain stimulation (EBS) can serve as a discriminative stimulus. It has long been suspected that this discriminative property reflects the subjective intensity of the rewarding effect. In turn, the counter model of spatiotemporal integration attributes the subjective reward intensity produced by a stimulation train of fixed duration to ...

Article GUID: 40015584


Genomics-Enabled Mixed-Stock Analysis Uncovers Intraspecific Migratory Complexity and Detects Unsampled Populations in a Harvested Fish

Author(s): Gibelli J; Won H; Michaelides S; Jeon HB; Fraser DJ;

The contributions of distinct populations to annual harvests provide key insights to conservation, especially in migratory species that return to specific reproductive areas. In this context, genetic stock identification (GSI) requires reference samples from source populations to assign harvested individuals, yet sampling might be challenging as reproduct ...

Article GUID: 39995301


Physical activity may protect myelin via modulation of high-density lipoprotein

Author(s): Boa Sorte Silva NC; Balbim GM; Stein RG; Gu Y; Tam RC; Dao E; Alkeridy W; Lam K; Kramer AF; Liu-Ambrose T;

Introduction: Physical activity is associated with greater myelin content in older individuals with cerebral small vessel disease (CSVD), a condition marked by demyelination. However, potential mechanisms underlying this relationship remain understudied. Methods: We assessed cross-sectionally wh ...

Article GUID: 39989020


Imaging flow cytometry-based cellular screening elucidates pathophysiology in individuals with Variants of Uncertain Significance

Author(s): Muffels IJJ; Waterham HR; D' Alessandro G; Zagnoli-Vieira G; Sacher M; Lefeber DJ; Van der Vinne C; Roifman CM; Gassen KLI; Rehmann H; Van Haaften-Visser DY; Nieuwenhuis ESS; Jackson SP; Fuchs SA; Wijk F; van Hasselt P;

Background: Deciphering variants of uncertain significance (VUS) represents a major diagnostic challenge, partially due to the lack of easy-to-use and versatile cellular readouts that aid the interpretation of pathogenicity and pathophysiology. To address this challenge, we propose a high-through ...

Article GUID: 39920830


In Shift and In Variance: Assessing the Robustness of HAR Deep Learning Models Against Variability

Author(s): Khaked AA; Oishi N; Roggen D; Lago P;

Deep learning (DL)-based Human Activity Recognition (HAR) using wearable inertial measurement unit (IMU) sensors can revolutionize continuous health monitoring and early disease prediction. However, most DL HAR models are untested in their robustness to real-world variability, as they are trained on limited lab-controlled data. In this study, we isolated ...

Article GUID: 39860799


Flow rate modulates focused ultrasound-mediated vascular delivery of microRNA

Author(s): He S; Singh D; Helfield B;

Gene therapy targeting ischemic heart disease is a promising therapeutic avenue, but it is mostly restricted to viral-based delivery approaches which are limited due to off-target immunological responses. Focused ultrasound presents a non-viral, image-guided technique in which circulating intravascular microbubble contrast agents can reversibly enhance va ...

Article GUID: 39850318


Effects of chronodisruption and alcohol consumption on gene expression in reward-related brain areas in female rats

Author(s): Meyer C; Schoettner K; Amir S;

Circadian dysfunction caused by exposure to aberrant light-dark conditions is associated with abnormal alcohol consumption in humans and animal models. Changes in drinking behavior have been linked to alterations in clock gene expression in reward-related brain areas, which could be attributed to either the effect of chronodisruption or alcohol. To date, ...

Article GUID: 39624490


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