Jocelyn Laporte

This study shows that human DNM2 causes erythropoiesis defects in mice due to rewiring of the proline-rich domain interactome, highlighting the importance of regulatory domains in tissue-specific function.

This study shows that muscle-specific DNM2 overexpression improves CMT symptoms in mice, but systemic delivery worsens muscle pathology, highlighting a narrow therapeutic window for DNM2 modulation.

This study shows BIN1 overexpression improves cardiac but not skeletal muscle function in Cav-3 knockout mice, highlighting tissue-specific therapeutic responses in caveolinopathies.

This study characterizes a Dnm2K562E/SC- mouse model of DNM2-CMT, showing axonal loss, demyelination, and limited therapeutic response to DNM2 supplementation.

This study uses multi-omics and network analysis in mouse models to identify molecular pathways in centronuclear myopathies and suggests potential therapeutic metabolites.

IMPatienT is a web application that digitizes, processes, and explores multimodal patient data, enabling EDA and diagnosis suggestions through a modular architecture.

The paper identifies heterozygous frameshift variants in hnRNPA2B1 causing early-onset oculopharyngeal muscular dystrophy by altering nucleocytoplasmic transport.

This paper shows that BIN1 overexpression in mice leads to early structural and functional impairments in hippocampal pathways associated with Alzheimer's disease, independent of A-beta changes.

The paper shows that TAM and STRMK mutations in STIM1 cause similar functional defects leading to excessive Ca2+ entry and shared pathomechanisms.

This study shows BIN1 overexpression rescues long-term memory deficits in Tau-overexpressing mice and identifies Thr348 phosphorylation as a key regulator of BIN1-Tau interaction.