Impaired flickering of the permeability transition pore causes SPG7 spastic paraplegia

Background: Mutations of the mitochondrial protein paraplegin cause hereditary spastic paraplegia type 7 (SPG7), a so-far untreatable degenerative disease of the upper motoneuron with still undefined pathomechanism. The intermittent mitochondrial permeability transition pore (mPTP) opening, called flickering, is an essential process that operates to maintain mitochondrial homeostasis by reducing intra-matrix Ca and reactive oxygen species (ROS) concentration, and is critical for efficient synaptic function.

Chromatin and transcriptional response to loss of TBX1 in differentiating mouse P19Cl6 and embryonic stem cells

The T-box transcription factor TBX1 has critical roles in the cardiopharyngeal lineage and the gene is haploinsufficient in DiGeorge syndrome, a typical developmental anomaly of the pharyngeal apparatus. Despite almost two decades of research, if and how TBX1 function triggers chromatin remodeling is not known. Here, we explored genome-wide gene expression and chromatin remodeling in two independent cellular models of Tbx1 loss of function, mouse embryonic carcinoma cells P19Cl6, and mouse embryonic stem cells (mESCs).

NeuroPycon: An open-source python toolbox for fast multi-modal and reproducible brain connectivity pipelines

Recent years have witnessed a massive push towards reproducible research in neuroscience. Unfortunately, this endeavor is often challenged by the large diversity of tools used, project-specific custom code and the difficulty to track all user-defined parameters. NeuroPycon is an open-source multi-modal brain data analysis toolkit which provides Python-based template pipelines for advanced multi-processing of MEG, EEG, functional and anatomical MRI data, with a focus on connectivity and graph theoretical analyses.

CHOP and c-JUN up-regulate the mutant Z ? 1-antitrypsin, exacerbating its aggregation and liver proteotoxicity

?1-Antitrypsin (AAT) encoded by the SERPINA1 gene is an acute-phase protein synthesized in the liver and secreted into the circulation. Its primary role is to protect lung tissue by inhibiting neutrophil elastase. The Z allele of SERPINA1 encodes a mutant AAT, named ATZ, that changes the protein structure and leads to its misfolding and polymerization, which cause endoplasmic reticulum (ER) stress and liver disease through a gain-of-function toxic mechanism.

Structure and rheology of suspensions of spherical strain-hardening capsules

We investigate the rheology of strain-hardening spherical capsules, from the dilute to the concentrated regime under a confined shear flow using three-dimensional numerical simulations. We consider the effect of capillary number, volume fraction and membrane inextensibility on the particle deformation and on the effective suspension viscosity and normal stress differences of the suspension. The suspension displays a shear-thinning behaviour that is a characteristic of soft particles such as emulsion droplets, vesicles, strain-softening capsules and red blood cells.

Unravelling the role of phoretic and hydrodynamic interactions in active colloidal suspensions

Active fluids comprise a variety of systems composed of elements immersed in a fluid environment which can convert some form of energy into directed motion; as such they are intrinsically out-of-equilibrium in the absence of any external force. A fundamental problem in the physics of active matter concerns the understanding of how the characteristics of autonomous propulsion and agent-agent interactions determine the collective dynamics of the system.

A tight relation between series-parallel graphs and bipartite distance hereditary graphs

Bandelt and Mulder's structural characterization of bipartite distance hereditary graphs 16 asserts that such graphs can be built inductively starting from a single vertex and by re- 17 peatedly adding either pendant vertices or twins (i.e., vertices with the same neighborhood 18 as an existing one). Dirac and Duffin's structural characterization of 2-connected series- 19 parallel graphs asserts that such graphs can be built inductively starting from a single edge 20 by adding either edges in series or in parallel.

Quantum Trajectories for the Dynamics in the Exact Factorization Framework: A Proof-of-Principle Test

In the framework of the exact factorization of the time-dependent electron-nuclear wave function, we investigate the possibility of solving the nuclear time-dependent Schrödinger equation based on trajectories. The nuclear equation is separated in a Hamilton-Jacobi equation for the phase of the wave function, and a continuity equation for its (squared) modulus. For illustrative adiabatic and nonadiabatic one-dimensional models, we implement a procedure to follow the evolution of the nuclear density along the characteristics of the Hamilton-Jacobi equation.

Characterization of a vertical crack using Laser Spot Thermography

This paper deals with the solution of an inverse problem for the heat equation aimed at nondestructive evaluation of fractures, emerging on the accessible surface of a slab, by means of Active Thermography. In real life, this surface is heated with a laser and its temperature is measured for a time interval by means of an infrared camera. A fundamental step in iterative inversion methods is the numerical solution of the underlying direct mathematical model.