Carine Bonnard

This study identifies a dominant CIDEC variant causing familial obesity by increasing lipid droplet size in adipocytes through structural and functional changes.

This study shows that loss of IVNS1ABP causes a progeroid neuropathy by impairing proteostasis, leading to protein aggregation and lysosomal dysfunction in neuronal cells.

This study identifies rare DRG1 variants causing a recessive neurodevelopmental disorder and shows their functional impact on GTPase activity and protein stability.

The paper identifies a deep intronic TAPT1 mutation causing progeroid syndrome using RNA-seq and homozygosity mapping, showing it leads to exon skipping and protein-null allele.

This study identifies two RBSN missense variants causing a Mendelian disorder with muscle weakness and intellectual disability by disrupting endosomal recycling and lysosomal degradation.

This study shows that Ermin deficiency causes myelin abnormalities and inflammation, leading to neurological deficits and increased susceptibility to demyelination, suggesting it as an 'inside-out' model for inflammatory dysmyelination.