[HTML][HTML] Sar1b mutant mice recapitulate gastrointestinal abnormalities associated with chylomicron retention disease
N Auclair, AT Sané, L Ahmarani, N Patey… - Journal of lipid …, 2021 - ASBMB
Chylomicron retention disease (CRD) is an autosomal recessive disorder associated with
biallelic Sar1b mutations leading to defects in intracellular chylomicron (CM) trafficking and
secretion. To date, a direct cause-effect relationship between CRD and Sar1b mutation has
not been established, but genetically modified animal models provide an opportunity to
elucidate unrecognized aspects of these mutations. To examine the physiological role and
molecular mechanisms of Sar1b function, we generated mice expressing either a targeted …
biallelic Sar1b mutations leading to defects in intracellular chylomicron (CM) trafficking and
secretion. To date, a direct cause-effect relationship between CRD and Sar1b mutation has
not been established, but genetically modified animal models provide an opportunity to
elucidate unrecognized aspects of these mutations. To examine the physiological role and
molecular mechanisms of Sar1b function, we generated mice expressing either a targeted …
