Allosteric Modulation of GCase Enhances Lysosomal Activity and Reduces ER Stress in GCase-Related Disorders

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Learning the language of the genome: AI- and data-driven decoding of genetic variants and disease mechanisms

Ali Saadat Varnosfaderanii

Genetic variation plays a crucial role in human disease susceptibility and molecular pathophysiology. This thesis explores genetic determinants of disease using advanced computational approaches, including statistical modeling, network analysis, and deep l ...

EPFL2025

Fingerprints of brain disease: connectome identifiability in Alzheimer’s disease

Dimitri Nestor Alice Van De Ville, Olaf Blanke, Maria Giulia Preti, Enrico Amico, Sara Stampacchia

Functional connectivity patterns in the human brain, like the friction ridges of a fingerprint, can uniquely identify individuals. Does this “brain fingerprint” remain distinct even during Alzheimer’s disease (AD)? Using fMRI data from healthy and patholog ...

Springer Science and Business Media LLC2024

Deep Learning-Assisted Single-Molecule Detection of Protein Post-translational Modifications with a Biological Nanopore

Hilal Lashuel, Matteo Dal Peraro, Anass Chiki, Chan Cao, Lucien Fabrice Krapp, Pedro José Santana Ribeiro Magalhães, Juan Francisco Bada Juarez, Verena Rukes, Simon Finn Mayer

Protein post-translational modifications (PTMs) play a crucial role in countless biological processes, profoundly modulating protein properties on both spatial and temporal scales. Protein PTMs have also emerged as reliable biomarkers for several diseases. ...

Amer Chemical Soc2023

The Nt17 Domain and its Helical Conformation Regulate the Aggregation, Cellular Properties and Neurotoxicity of Mutant Huntingtin Exon 1

Giovanni Dietler, Hilal Lashuel, Anass Chiki, Francesco Simone Ruggeri, Anne-Laure Mahul Mellier, Urszula Beata Cendrowska, Sophie Vieweg, Nathan Alain Denis Riguet, Sean Michael Deguire

Converging evidence points to the N-terminal domain comprising the first 17 amino acids of the Huntingtin protein (Nt17) as a key regulator of its aggregation, cellular properties and toxicity. In this study, we further investigated the interplay between N ...

Elsevier2021