06-P005 Rab23 regulates cell migration independent of hedgehog signalling in zebrafish: new insight into the Carpenter syndrome phenotype

06-P005 Rab23 regulates cell migration independent of hedgehog signalling in zebrafish: new insight into the Carpenter syndrome phenotype

ing the duplication generates increased levels of EFNB1 transcript, compared to the normal chromosome. We also show that imbalance of ephrin-B1 between X chromosomes in a mouse model containing a hypomorphic Efnb1 conditional allele results in aberrant cell mixing of the cranial primordia during development and hypertelorism. Taken together these data suggest that cellular mosaicism for differe...

The carpenter syndrome phenotype.

Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, mental retardation, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities. We report a 6 years old boy presenting as a union of these malformations and also having bilateral sensorineural hearing loss. Auditory di...

Mouse Rab23 regulates hedgehog signaling from smoothened to Gli proteins.

Sonic hedgehog (Shh) signaling is required for the growth and patterning of many tissues in vertebrate embryos, but important aspects of the Shh signal transduction pathway are poorly understood. For example, the vesicle transport protein Rab23 is a cell autonomous negative regulator of Shh signaling, but the process affected by Rab23 has not been defined. Here, we demonstrate that Rab23 acts u...

Mitophagy: New Insight into the Cardiovascular Aging  

The Hedgehog signalling pathway regulates autophagy

Autophagy is a highly conserved degradative process that removes damaged or unnecessary proteins and organelles, and recycles cytoplasmic contents during starvation. Autophagy is essential in physiological processes such as embryonic development but how autophagy is regulated by canonical developmental pathways is unclear. Here we show that the Hedgehog signalling pathway inhibits autophagosome...