Inès Barthélémy

A missense variant in PAOX in American Staffordshire Terriers with juvenile-onset polyneuropathy

This paper identifies a missense variant in the PAOX gene as the cause of juvenile-onset polyneuropathy in American Staffordshire Terriers, highlighting its potential as a model for human Charcot-Marie-Tooth disease.

CRISPR/Cas13-mediated Dynamin 2 reduction therapy in a canine model of DNM2-related centronuclear myopathy

This study demonstrates that CRISPR/Cas13-mediated reduction of DNM2 expression can alleviate CNM symptoms in a canine model.

Early endosome disturbance and endolysosomal pathway dysfunction in Duchenne muscular dystrophy

This study identifies endosomal pathway dysfunction in DMD muscle cells and shows that Rab5 upregulation contributes to endosomal defects, which can be mitigated by Rab5 knock-down or dystrophin restoration.

Targeting lysosomal damage is a new therapeutic perspective for Duchenne Muscular Dystrophy

This study identifies lysosomal damage as a novel mechanism in Duchenne Muscular Dystrophy and shows that combining trehalose with gene therapy improves outcomes.