| Sar1b mutant mice recapitulate gastrointestinal abnormalities associated with chylomicron retention disease. | Sar1b mutant mice recapitulate gastrointestinal abnormalities associated with chylomicron retention disease.
Auclair N, Sané AT, Ahmarani L, Patey N, Beaulieu JF, Peretti N, Spahis S, Levy E., Free PMC Article | 08/26/2024 |
| Functional overlap between the mammalian Sar1a and Sar1b paralogs in vivo. | Functional overlap between the mammalian Sar1a and Sar1b paralogs in vivo.
Tang VT, Xiang J, Chen Z, McCormick J, Abbineni PS, Chen XW, Hoenerhoff M, Emmer BT, Khoriaty R, Lin JD, Ginsburg D., Free PMC Article | 05/2/2024 |
| Receptor-Mediated ER Export of Lipoproteins Controls Lipid Homeostasis in Mice and Humans. | Receptor-Mediated ER Export of Lipoproteins Controls Lipid Homeostasis in Mice and Humans.
Wang X, Wang H, Xu B, Huang D, Nie C, Pu L, Zajac GJM, Yan H, Zhao J, Shi F, Emmer BT, Lu J, Wang R, Dong X, Dai J, Zhou W, Wang C, Gao G, Wang Y, Willer C, Lu X, Zhu Y, Chen XW. | 12/4/2021 |
| SAR1B senses leucine levels to regulate mTORC1 signalling. | SAR1B senses leucine levels to regulate mTORC1 signalling.
Chen J, Ou Y, Luo R, Wang J, Wang D, Guan J, Li Y, Xia P, Chen PR, Liu Y. | 08/28/2021 |
| Small sequence variations between two mammalian paralogs of the small GTPase SAR1 underlie functional differences in coat protein complex II assembly. | Small sequence variations between two mammalian paralogs of the small GTPase SAR1 underlie functional differences in coat protein complex II assembly.
Melville DB, Studer S, Schekman R., Free PMC Article | 01/9/2021 |
| SAR1B GTPase is necessary to protect intestinal cells from disorders of lipid homeostasis, oxidative stress, and inflammation | SAR1B GTPase is necessary to protect intestinal cells from disorders of lipid homeostasis, oxidative stress, and inflammation.
Sané A, Ahmarani L, Delvin E, Auclair N, Spahis S, Levy E., Free PMC Article | 06/27/2020 |
| Chylomicron retention disease is an autosomal recessive disorder, in which intestinal fat malabsorption is the main cause of diverse severe manifestations due to mutations in the SAR1B. (Review) | Chylomicron retention disease: genetics, biochemistry, and clinical spectrum.
Levy E, Poinsot P, Spahis S. | 06/6/2020 |
| Twenty-three patients were genetically confirmed as affected by primary hypobetalipoproteinemia. In this group of patients, the most prevalent mutated genes were APOB (in 17 patients, with eight novel mutations identified), SAR1B (in 3 patients, with one novel mutation identified), ANGPTL3 (in 2 patients), and MTTP (in 1 patient). The other 21 patients could not be genetically diagnosed with hypobetalipoproteinemia despit | Molecular analysis of APOB, SAR1B, ANGPTL3, and MTTP in patients with primary hypocholesterolemia in a clinical laboratory setting: Evidence supporting polygenicity in mutation-negative patients.
Blanco-Vaca F, Martin-Campos JM, Beteta-Vicente Á, Canyelles M, Martínez S, Roig R, Farré N, Julve J, Tondo M. | 05/16/2020 |
| Study data suggest that SAR1A and SAR1B are the critical regulators of trafficking of Nav1.5. Moreover, SAR1A and SAR1B interact with MOG1, and are required for MOG1-mediated cell surface expression and function of Nav1.5. | Small GTPases SAR1A and SAR1B regulate the trafficking of the cardiac sodium channel Na(v)1.5.
Wang Z, Yu G, Liu Y, Liu S, Aridor M, Huang Y, Hu Y, Wang L, Li S, Xiong H, Tang B, Li X, Cheng C, Chakrabarti S, Wang F, Wu Q, Karnik SS, Xu C, Chen Q, Wang QK., Free PMC Article | 12/22/2018 |
| Targeted next generation DNA sequencing revealed several rare heterozygous missense variants in both MTTP and APOB genes known or predicted to be deleterious, in addition to a novel heterozygous missense variant in SAR1B, which encodes the gene causing chylomicron retention disease | Complex genetic architecture in severe hypobetalipoproteinemia.
Wang LR, McIntyre AD, Hegele RA., Free PMC Article | 09/22/2018 |
| Report compensatory Sar1a elevation after Sar1b gene deletion in Caco-2/15 cells prevents chylomicron collapse. | Understanding Chylomicron Retention Disease Through Sar1b Gtpase Gene Disruption: Insight From Cell Culture.
Sané AT, Seidman E, Peretti N, Kleme ML, Delvin E, Deslandres C, Garofalo C, Spahis S, Levy E. | 12/16/2017 |
| SAR1B polymorphisms were associated with Alzheimer's disease (AD) risk; results were not significant after correction for multiple tests. Simultaneous screening using SAR1B rs11948613 and ApoE epsilon4 status offered a better sensitivity for AD screening. | Genetic polymorphisms of lipid metabolism gene SAR1 homolog B and the risk of Alzheimer's disease and vascular dementia.
Chen JH, Hsieh CJ, Huang YL, Chen YC, Chen TF, Sun Y, Wen LL, Yip PK, Chu YM. | 01/28/2017 |
| Our data also suggest that Sar1B overexpression contributes to regulation of CHOL transport and metabolism by facilitating rapid uptake and transport of CHOL. | New Insights In Intestinal Sar1B GTPase Regulation and Role in Cholesterol Homeostasis.
Sané A, Seidman E, Spahis S, Lamantia V, Garofalo C, Montoudis A, Marcil V, Levy E. | 06/4/2016 |
| although Sar1A antagonizes the lipoprotein secretion-promoting activity of Sar1B, both isoforms modulate the expression of genes encoding cholesterol biosynthetic enzymes and the synthesis of cholesterol de novo. | The endoplasmic reticulum coat protein II transport machinery coordinates cellular lipid secretion and cholesterol biosynthesis.
Fryer LG, Jones B, Duncan EJ, Hutchison CE, Ozkan T, Williams PA, Alder O, Nieuwdorp M, Townley AK, Mensenkamp AR, Stephens DJ, Dallinga-Thie GM, Shoulders CC., Free PMC Article | 05/3/2014 |
| the behavior of the human of Sar1A and Sar1B, a key component of the COPII family of vesicle coat proteins, was examined. | Modulation of membrane rigidity by the human vesicle trafficking proteins Sar1A and Sar1B.
Loftus AF, Hsieh VL, Parthasarathy R. | 02/16/2013 |
| Sar1b expression may promote intestinal lipid transport with the involvement of the coat protein complex II network and the processing of SREBP-1c. | Expression of Sar1b enhances chylomicron assembly and key components of the coat protein complex II system driving vesicle budding.
Levy E, Harmel E, Laville M, Sanchez R, Emonnot L, Sinnett D, Ziv E, Delvin E, Couture P, Marcil V, Sane AT. | 01/28/2012 |
| Variable phenotypic expression of chylomicron retention disease in a kindred carrying a mutation of the Sara2 gene. | Variable phenotypic expression of chylomicron retention disease in a kindred carrying a mutation of the Sara2 gene.
Cefalù AB, Calvo PL, Noto D, Baldi M, Valenti V, Lerro P, Tramuto F, Lezo A, Morra I, Cenacchi G, Barbera C, Averna MR. | 04/12/2010 |
| muscular as well as cardiac abnormalities that could be related to the reported expression of SARA2 in these tissues | Anderson's disease (chylomicron retention disease): a new mutation in the SARA2 gene associated with muscular and cardiac abnormalities.
Silvain M, Bligny D, Aparicio T, Laforêt P, Grodet A, Peretti N, Ménard D, Djouadi F, Jardel C, Bégué JM, Walker F, Schmitz J, Lachaux A, Aggerbeck LP, Samson-Bouma ME. | 01/21/2010 |
| Five mutations in the SAR1B gene causing Anderson disease. | 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, Sassolas A, Peretti N, Roy CC, Deslandres C, Sinnett D, Levy E, Lachaux A. | 01/21/2010 |
| Sara2 is an important gene in processes involving erythroid cell proliferation and differentiation. | Expression of Sara2 human gene in erythroid progenitors.
Jardim DL, da Cunha AF, Duarte Ada S, dos Santos CO, Saad ST, Costa FF. | 01/21/2010 |
| identify eight mutations in SARA2 that are associated with three severe disorders of fat malabsorption | Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders.
Jones B, Jones EL, Bonney SA, Patel HN, Mensenkamp AR, Eichenbaum-Voline S, Rudling M, Myrdal U, Annesi G, Naik S, Meadows N, Quattrone A, Islam SA, Naoumova RP, Angelin B, Infante R, Levy E, Roy CC, Freemont PS, Scott J, Shoulders CC. | 01/21/2010 |