Publications related to A new rat model of creatine transporter deficiency reveals behavioral disorder and altered brain metabolism

Related publications (35)

Harnessing modular approaches in the study of crystalline sorbents

Sorbent are the workhorses of most contemporary separation processes. Crystalline sorbents boast descript structures that facilitate in silico study. Their diversity is matched by their varied applications. At the forefront of their currently researched ap ...

EPFL2025

Decoding the Clinical and Molecular Signatures of EGFR Common, Compound, and Uncommon Mutations in NSCLC: A Brief Report

Daniele Tavernari

Introduction: EGFR mutations are key oncogenic drivers in lung adenocarcinoma (LUAD), predominantly affecting Asian, nonsmoking, and female populations. Although common mutations, such as exon 19 deletions and L858R, respond well to tyrosine kinase inhibit ...

ELSEVIER SCIENCE INC2025

Self-dispatching a renewable energy community by means of battery energy storage systems

Mario Paolone, Francesco Gerini, Matthieu Benoit C. Jacobs

Renewable energy communities, where citizens, businesses, and institutions produce, consume, store, and share energy, are increasingly pivotal in energy markets. The use of shared community batteries introduces the challenge of adapting control strategies ...

2025

A Spatiotemporal analysis of photovoltaic electricity storage potential in electric vehicles

Christophe Ballif, Nicolas Würsch, Alejandro Pena Bello, Noémie Alice Yvonne Ségolène Jeannin, Jérémy Dumoulin

Decarbonizing mobility and integrating more renewable sources in electricity production are necessary levers to meet the climate targets. Coupling electric vehicle (EV) charging with photovoltaic (PV) electricity generation could help to provide clean elec ...

Aalborg University2025

Deciphering the Foundations of Mitochondrial Mutational Spectra: Replication-Driven and Damage-Induced Signatures Across Chordate Classes

Jacques Fellay, Konstantin Popadin

Mitochondrial DNA (mtDNA) mutagenesis remains poorly understood despite its crucial role in disease, aging, and evolutionary tracing. In this study, we reconstructed a comprehensive 192-component mtDNA mutational spectrum for chordates by analyzing 118,397 ...

OXFORD UNIV PRESS2025

Non-invasive stimulation of the human striatum disrupts reinforcement learning of motor skills

Friedhelm Christoph Hummel, Takuya Morishita, Maximilian Jonas Wessel, Elena Beanato, Traian Popa, Pierre Theopistos Vassiliadis, Fabienne Windel, Esra Neufeld

Reinforcement feedback can improve motor learning, but the underlying brain mechanisms remain underexplored. In particular, the causal contribution of specific patterns of oscillatory activity within the human striatum is unknown. To address this question, ...

Nature Portfolio2024

The role of LRRK2 in lung adenocarcinoma

Aspasia Gkasti

Lung cancer is the leading cause of cancer-related deaths worldwide and the most common lung cancer subtype is lung adenocarcinoma (LUAD). Frequently mutated genes involve activating mutations in KRAS and loss of function mutations in TP53. LUADs primarily ...

EPFL2024

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles

Giovanna Ambrosini, Nicolas Jean Philippe Guex, Christian Iseli

Background: We previously described the KINSSHIP syndrome, an autosomal dominant disorder associated with intellectual disability (ID), mesomelic dysplasia and horseshoe kidney,caused by de novo variants in the degron of AFF3. Mouse knock-ins and overexpre ...

BMC2024

Unraveling behavior and cortical signals to guide the development of soft neuroprostheses for auditory restoration and spreading depolarization

Emilie Cornelia Maria Revol

Neuroprostheses have been used clinically for decades, to help restore or preserve brain functions, when pharmaceutical treatments are inefficient. Although great progress in the field has been made over the years to interface with the nervous system, surf ...

EPFL2024

Parental status and markers of brain and cellular age: A 3D convolutional network and classification study

Donal Patrick Hill

Recent research shows prominent effects of pregnancy and the parenthood transition on structural brain characteristics in humans. Here, we present a comprehensive study of how parental status and number of children born/fathered links to markers of brain a ...

Pergamon-Elsevier Science Ltd2024

The interplay between white adipose tissue, adipokines, and structural gray matter changes

Jean-Philippe Thiran, Gabriel Girard, Elda Fischi Gomez

The growing global obesity issue emphasizes the importance of understanding its health implications. Previous research has identified consistent alterations in gray matter (GM) volume in connection with obesity. Given the various implications of distinct f ...

Wiley2024

White adipose tissue distribution and amount are associated with increased white matter connectivity

Jean-Philippe Thiran, Gabriel Girard, Elda Fischi Gomez, Philipp Johannes Koch

Obesity represents a significant public health concern and is linked to various comorbidities and cognitive impairments. Previous research indicates that elevated body mass index (BMI) is associated with structural changes in white matter (WM). However, a ...

Wiley2024

Rescue of myocytes and locomotion through AAV2/9-2YF intracisternal gene therapy in a rat model of creatine transporter deficiency

Maria del Carmen Sandi Perez, Cristina Ramona Cudalbu Moldovan

Creatine de fi ciency syndromes (CDS), caused by mutations in GATM (AGAT), GAMT , and SLC6A8 , mainly affect the central nervous system (CNS). CDS show brain creatine (Cr) de fi ciency, intellectual disability with severe speech delay, behavioral troubles, ...

Cell Press2024

Integrated Wireless Power, Data Communication, and Thermal Sensing System for Autonomous Multisite Brain Implants

Mohammad Javad Karimi

Implanted medical devices (IMDs) have been widely developed to support the monitoring and recording of biological data inside the body or brain. Wirelessly powered IMDs, a subset of implantable electronics, have been proposed to eliminate the limitations r ...

EPFL2024

The autism susceptibility kinase, TAOK2, phosphorylates eEF2 and modulates translation

Nagammal Neelagandan

Genes implicated in translation control have been associated with autism spectrum disorders (ASDs). However, some important genetic causes of autism, including the 16p11.2 microdeletion, bear no obvious connection to translation. Here, we use proteomics, g ...

Amer Assoc Advancement Science2024

A Data-driven Framework for Occupant-centric Demand Flexibility Potential Evaluation at Scale

Andrew James Sonta, Yufei Zhang

Building demand flexibility is essential for balancing the grid as renewable energy generation increases. However, the limited adoption of flexibility-enabling technologies underscores the need for scalable solutions to evaluate flexibility. Despite increa ...

ACM - Association for Computing Machinery2024

Driving and suppressing the human language network using large language models

Martin Schrimpf

Transformer models such as GPT generate human-like language and are predictive of human brain responses to language. Here, using functional-MRI-measured brain responses to 1,000 diverse sentences, we first show that a GPT-based encoding model can predict t ...

Nature Portfolio2024

Safety, tolerability and blinding efficiency of non-invasive deep transcranial temporal interference stimulation: first experience from more than 250 sessions

Friedhelm Christoph Hummel, Maximilian Jonas Wessel, Elena Beanato, Pierre Theopistos Vassiliadis, Fabienne Windel

Objective. Selective neuromodulation of deep brain regions has for a long time only been possible through invasive approaches, because of the steep depth-focality trade-off of conventional non-invasive brain stimulation (NIBS) techniques. Approach. An appr ...

Iop Publishing Ltd2024

Thalamic contributions to psychosis susceptibility: Evidence from co-activation patterns accounting for intra-seed spatial variability (μCAPs)

Dimitri Nestor Alice Van De Ville, Thomas William Arthur Bolton, Farnaz Delavari

The temporal variability of the thalamus in functional networks may provide valuable insights into the pathophysiology of schizophrenia. To address the complexity of the role of the thalamic nuclei in psychosis, we introduced micro-co-activation patterns ( ...

Wiley2024

Single-cell epigenomic reconstruction of developmental trajectories from pluripotency in human neural organoid systems

Fides Zenk

Cell fate progression of pluripotent progenitors is strictly regulated, resulting in high human cell diversity. Epigenetic modifications also orchestrate cell fate restriction. Unveiling the epigenetic mechanisms underlying human cell diversity has been di ...

Nature Portfolio2024