Publications related to AAV9-mediated SMN gene therapy rescues cardiac desmin but not lamin A/C and elastin dysregulation in Smn(2B/-) spinal muscular atrophy mice

Related publications (30)

The role of computational methods in cardiovascular medicine: a narrative review

Alfio Quarteroni, Luca Dede', Christian Vergara, Stefano Pagani

Background and Objective: Computational models of the cardiovascular system allow for a detailed and quantitative investigation of both physiological and pathological conditions, thanks to their ability to combine clinical-possibly patient-specific-data wi ...

Ame Publishing Company2024

Whole-heart electromechanical simulations using Latent Neural Ordinary Differential Equations

Alfio Quarteroni, Luca Dede', Francesco Regazzoni

Cardiac digital twins provide a physics and physiology informed framework to deliver personalized medicine. However, high-fidelity multi-scale cardiac models remain a barrier to adoption due to their extensive computational costs. Artificial Intelligence-b ...

Nature Portfolio2024

Implementation of an epicardial implantable MEMS sensor for continuous and real-time postoperative assessment of left ventricular activity in adult minipigs over a short- and long-term period

Silvestro Micera

The sensing of left ventricular (LV) activity is fundamental in the diagnosis and monitoring of cardiovascular health in high-risk patients after cardiac surgery to achieve better short- and long-term outcome. Conventional approaches rely on noninvasive me ...

Aip Publishing2024

Mechanisms and functions of protein S-acylation

Françoise Gisou van der Goot Grunberg, Laurence Gouzi Abrami, Francisco De Magalhães Sarmento Ribeiro De Mesquita

Over the past two decades, protein S-acylation (often referred to as S-palmitoylation) has emerged as an important regulator of vital signalling pathways. S-Acylation is a reversible post-translational modification that involves the attachment of a fatty a ...

Nature Portfolio2024

Apparatus for non-invasively computing cardio-vasculature parameters using morphology of uncalibrated pressure wave signal

Nikolaos Stergiopoulos, Vasiliki Bikia, Georgios Rovas

Systems and apparatus are provided for using a non-invasively monitored uncalibrated pressure signal from a patient to compute cardiac output and other cardio-vascular parameters, thereby providing safe, effective, reliable and low cost monitoring of patie ...

2024

Engineering novel protein interactions with therapeutic potential using deep learning-guided surface design

Anthony Marchand

Proteins are foundational biomolecules of life playing a crucial role in a myriad of biological processes. Their function often requires interplay with other biomolecules, including proteins themselves. Protein-protein interactions (PPIs) are essential for ...

EPFL2024

Fast-Response Variable-Stiffness Magnetic Catheters for Minimally Invasive Surgery

Dario Floreano, Jun Shintake, Yegor Piskarev, Yi Sun

In minimally invasive surgery, such as cardiac ablation, magnetically steered catheters made of variable-stiffness materials can enable higher dexterity and higher force application to human tissue. However, the long transition time between soft and rigid ...

2024

From Sequence to Dynamics to Function: Computational Design of Allostery and Ligand Selectivity in G-Protein Coupled Receptors

Mahdi Hijazi

The phenomenon of allostery, a general property in proteins that has been heralded as "the second secret of life" remains elusive to our understanding and even more challenging to incorporate into protein design. One example of allosteric proteins with gre ...

EPFL2024

Development of tools and methods for protein identification: From single molecules to in vivo applications

Salome Riccarda Püntener

As the fundamental machinery orchestrating cellular functions, proteins influence the state of every cell profoundly. As cells exhibit significant variations from one to another, analyzing the proteome on a single-cell level is imperative to unravel their ...

EPFL2024

Opportunities and challenges in design and optimization of protein function

Bruno Emanuel Ferreira De Sousa Correia, Casper Alexander Goverde

The field of protein design has made remarkable progress over the past decade. Historically, the low reliability of purely structure-based design methods limited their application, but recent strategies that combine structure-based and sequence-based calcu ...

Nature Portfolio2024

Synergetic Support of Cartilage Homeostasis via Coupled Thermal-Hydrostatic Pressure Stimuli

Yanheng Guo

Cartilage homeostasis, crucial for musculoskeletal function, is orchestrated by interconnected biophysical cues. In healthy cartilage, repetitive compressive loading not only elicits a range of mechanical stimuli but also induces a gradual transient temper ...

EPFL2024

Investigating the intra-molecular and inter-molecular effects of post-translational modifications on intrinsically disordered protein regions and structured protein regions

Zhidian Zhang

Post-translational modifications (PTMs) play a pivotal role in regulating protein structure, interaction, and function. Aberrant PTM patterns are associated with diseases. Moreover, individual PTMs have a complex interaction with each other, known as PTM c ...

EPFL2024

Interrelation between cardiac and brain small-vessel disease: a pilot quantitative PET and MRI study

Bénédicte Marie Maréchal, Ricardo Alberto Corredor Jerez

Background: Small-vessel disease (SVD) plays a crucial role in cardiac and brain ischemia, but little is known about potential interrelation between both. We retrospectively evaluated 370 patients, aiming at assessing the interrelation between cardiac and ...

Springernature2023

Left cardiac vagotomy rapidly reduces contralateral cardiac vagal electrical activity in anesthetized Gottingen minipigs

Silvestro Micera, Ivo Strauss

Background: The impact of acute unilateral injury on spontaneous electrical activity in both vagus nerves at the heart level is poorly understood. We investigated the immediate neuroelectrical response after right or left cardiac vagal nerve transection (V ...

Elsevier Ireland Ltd2023

Efficient approximation of cardiac mechanics through reduced-order modeling with deep learning-based operator approximation

Alfio Quarteroni, Andrea Manzoni

Reducing the computational time required by high-fidelity, full-order models (FOMs) for the solution of problems in cardiac mechanics is crucial to allow the translation of patient-specific simulations into clinical practice. Indeed, while FOMs, such as th ...

Wiley2023

A comprehensive mathematical model for cardiac perfusion

Alfio Quarteroni, Francesco Regazzoni, Christian Vergara

The aim of this paper is to introduce a new mathematical model that simulates myocardial blood perfusion that accounts for multiscale and multiphysics features. Our model incorporates cardiac electrophysiology, active and passive mechanics, hemodynamics, v ...

Nature Portfolio2023

Cardiac output estimated from an uncalibrated radial blood pressure waveform: validation in an in-silico-generated population

Nikolaos Stergiopoulos, Vasiliki Bikia, Georgios Rovas

Background: Cardiac output is essential for patient management in critically ill patients. The state-of-the-art for cardiac output monitoring bears limitations that pertain to the invasive nature of the method, high costs, and associated complications. Hen ...

FRONTIERS MEDIA SA2023

lifex-cfd: An open-source computational fluid dynamics solver for cardiovascular applications

Alfio Quarteroni, Luca Dede'

Computational fluid dynamics (CFD) is an important tool for the simulation of the cardiovascular function and dysfunction. Due to the complexity of the anatomy, the transitional regime of blood flow in the heart, and the strong mutual influence between the ...

Elsevier2023

lifex-ep: a robust and efficient software for cardiac electrophysiology simulations

Alfio Quarteroni, Francesco Regazzoni, Stefano Pagani

Background: Simulating the cardiac function requires the numerical solution of multi-physics and multi-scale mathematical models. This underscores the need for streamlined, accurate, and high-performance computational tools. Despite the dedicated endeavors ...

BMC2023

A mathematical model that integrates cardiac electrophysiology, mechanics, and fluid dynamics: Application to the human left heart

Alfio Quarteroni, Luca Dede'

We propose a mathematical and numerical model for the simulation of the heart function that couples cardiac electrophysiology, active and passive mechanics and hemodynamics, and includes reduced models for cardiac valves and the circulatory system. Our mod ...

Wiley2023