Fransiska Malfait

The chemical chaperone 4-phenylbutyric acid rescues molecular cell defects of COL3A1 mutations that cause vascular Ehlers Danlos Syndrome

This study shows that 4-phenylbutyric acid rescues molecular defects in COL3A1 mutations causing vEDS by reducing ER stress and improving collagen secretion.

Reduced Capsaicin-Induced Mechanical Allodynia and Neuronal Responses in the DRG in the Presence of Shp1 Overexpression

This study shows that SHP-1 overexpression reduces capsaicin-induced mechanical allodynia in both male and female mice by dephosphorylating TRPV1 in DRG neurons.

The matrisome of the murine and human dorsal root ganglion: a transcriptomal approach

This study identifies the cellular distribution of matrisome genes in murine and human dorsal root ganglia, revealing their potential role in neuronal signaling and pain.

b3galt6 knock-out zebrafish recapitulate β3GalT6-deficiency disorders in human and reveal a trisaccharide proteoglycan linkage region

This study shows that b3galt6 knock-out zebrafish exhibit human β3GalT6-deficiency disorders, revealing a novel proteoglycan linkage region mechanism.

Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies

This study shows zebrafish mutants with type I collagen mutations closely mimic human collagenopathies, revealing phenotypic variability linked to disease severity and potential for identifying genetic modifiers.