Pathophysiologie et génétique du neurone et du muscle

Domaines scientifiques déclarés au RNSR

Panels ERC déclarés au RNSR

Mots-clés des publications HAL repérées

Projets ANR

• Rôle du GDF5 dans la sclérose latérale amyotrophique pour les stratégies thérapeutiques · 2026
• Adaptation des muscles squelettiques au stress nutritionnel : un rôle clé du monoxyde de carbone (CO) · 2026
• Régulations dynamique des voies de signalisation assurant un contrôle spacio-temporel de la formation des branches axonales · 2026

Publications HAL récentes repérées

• Characterisation of a Missense Variant of the Alström Syndrome Centrosome and Basal Body Associated Protein (ALMS1) Gene Associated with Cardiomyopathy Using Induced Pluripotent Stem Cells · 2026

  Résumé de la publication : Background/Objectives: Human induced pluripotent stem cell (hiPSC) models provide a unique platform for testing the effect of genomic variants identified in patients with inherited diseases. In Alström syndrome, a rare multisystem disorder mainly caused by nonsense mutations in the ALMS1 gene, patients…

• Selective vulnerability of intracortical projection neurons drives long-term cortical circuit rewiring after perinatal hypoxia · 2026

  Résumé de la publication : Abstract Cortical circuits are built at perinatal times and gradually refined in an activity-dependent manner during a so-called postnatal period of critical plasticity. Although lesions of the central nervous system (CNS) happening during this period typically recover better than those occurring later…

• NuMA1 controls myonuclear motility in striated skeletal muscle through AMPK activity and is impaired in Duchenne Muscular Dystrophy · 2026

  Résumé de la publication : Abstract Skeletal muscle consists in a bundle of thousands post-mitotic multinucleated cells, called myofibers, in which myonuclei are evenly spaced and positioned at the periphery. This myonuclear positioning i) shapes myonuclear domain (MND) in myofibers, essential for the transcriptional integrity of myofibers,…

• NuMA1 controls myonuclear motility in striated skeletal muscle through AMPK activity and is impaired in Duchenne muscular dystrophy · 2026

  Résumé de la publication : Abstract Skeletal muscle consists of a bundle of thousands of post-mitotic multinucleated cells (i.e., myofibers), in which myonuclei are evenly spaced and positioned at the periphery. This myonuclear positioning shapes myonuclear domain (MND) in myofibers, is essential for the transcriptional integrity of…

• Long-read Oxford Nanopore sequencing enables rapid, cost-effective, and comprehensive TTR genetic testing for hereditary transthyretin amyloidosis · 2026

  Résumé de la publication : Objectives Hereditary transthyretin amyloidosis (ATTRv) is a rare autosomal dominant disorder caused by pathogenic variants in the TTR gene, with marked clinical heterogeneity and frequent underdiagnosis. Genetic confirmation is essential for patient management but is traditionally based on Sanger sequencing or short-read…