Associated Papers
Sar1b mutant mice recapitulate gastrointestinal abnormalities associated with chylomicron retention disease.
Auclair N et al.
Journal of Lipid Research, 2021
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM8_ESM.xlsx › S6B
Update on the molecular biology of dyslipidemias.
Ramasamy I
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016
Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia.
Magnolo L et al.
Gene, 2013
Guidelines for the diagnosis and management of chylomicron retention disease based on a review of the literature and the experience of two centers.
Peretti N et al.
Orphanet Journal of Rare Diseases, 2010
Anderson's disease (chylomicron retention disease): a new mutation in the SARA2 gene associated with muscular and cardiac abnormalities.
Silvain M et al.
Clinical Genetics, 2008
Anderson or chylomicron retention disease: molecular impact of five mutations in the SAR1B gene on the structure and the functionality of Sar1b protein.
Charcosset M et al.
Molecular Genetics and Metabolism, 2008
The intracellular transport of chylomicrons requires the small GTPase, Sar1b.
Shoulders CC et al.
Current Opinion in Lipidology, 2004
Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders.
Jones B et al.
Nature Genetics, 2003
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