ArticleOrphanet journal of rare diseases2011
Molecular analysis and intestinal expression of SAR1 genes and proteins in Anderson's disease (Chylomicron retention disease).
Article in Orphanet journal of rare diseases, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
29 citing papers in PubMed, 174 citations in OpenAlex.
- Case Report: Neonatal-onset chylomicron retention disease presenting as isolated failure to thrive with compound heterozygousFrontiers in pediatrics · 2026Article
- Article
- The genetics of monogenic intestinal epithelial disorders.Human genetics · 2023Review
- Cargo selection in endoplasmic reticulum-to-Golgi transport and relevant diseases.The Journal of clinical investigation · 2023Review
- Chylomicron Retention Disease: Failure to Thrive and Abdominal Distention in an Infant.JPGN reports · 2022Article
- Rare primary dyslipidaemias associated with low LDL and HDL cholesterol values in Portugal.Frontiers in genetics · 2022Article
- Diacylglycerol acyltransferase 1/2 inhibition induces dysregulation of fatty acid metabolism and leads to intestinal barrier failure and diarrhea in mice.Physiological reports · 2020Article
- Small sequence variations between two mammalian paralogs of the small GTPase SAR1 underlie functional differences in coat protein complex II assembly.The Journal of biological chemistry · 2020Article
- Consequences of mutations in the genes of the ER export machinery COPII in vertebrates.Cell stress & chaperones · 2020Review
- Coming Back to Physiology: Extra Hepatic Functions of Proprotein Convertase Subtilisin/Kexin Type 9.Frontiers in physiology · 2020Review
- Export Control: Post-transcriptional Regulation of the COPII Trafficking Pathway.Frontiers in cell and developmental biology · 2020Review
- Targeted Quantitative Proteomic Approach for Probing Altered Protein Expression of Small GTPases Associated with Colorectal Cancer Metastasis.Analytical chemistry · 2019Article
- Fatty-acid binding protein 5 modulates the SAR1 GTPase cycle and enhances budding of large COPII cargoes.Molecular biology of the cell · 2019Article
- Efficacy of two vitamin E formulations in patients with abetalipoproteinemia and chylomicron retention disease.Journal of lipid research · 2018Article
- SFT-4/Surf4 control ER export of soluble cargo proteins and participate in ER exit site organization.The Journal of cell biology · 2018Article
- Recent discoveries on absorption of dietary fat: Presence, synthesis, and metabolism of cytoplasmic lipid droplets within enterocytes.Biochimica et biophysica acta · 2016Review
- Insights from human congenital disorders of intestinal lipid metabolism.Journal of lipid research · 2015Review
- Overview and introduction: thematic review series on intestinal lipid metabolism.Journal of lipid research · 2015Article
- Studying lipoprotein trafficking in zebrafish, the case of chylomicron retention disease.Journal of molecular medicine (Berlin, Germany) · 2015Article
- Animal model of Sar1b deficiency presents lipid absorption deficits similar to Anderson disease.Journal of molecular medicine (Berlin, Germany) · 2015Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
14 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAnderson's disease (AD) or chylomicron retention disease (CMRD) is a very rare hereditary lipid malabsorption syndrome. In order to discover novel mutations in the SAR1B gene and to evaluate the expression, as compared to healthy subjects, of the Sar1 gene and protein paralogues in the intestine, we investigated three previously undescribed individuals with the disease.
methodsThe SAR1B, SAR1A and PCSK9 genes were sequenced. The expression of the SAR1B and SAR1A genes in intestinal biopsies of both normal individuals and patients was measured by RTqPCR. Immunohistochemistry using antibodies to recombinant Sar1 protein was used to evaluate the expression and localization of the Sar1 paralogues in the duodenal biopsies.
resultsTwo patients had a novel SAR1B mutation (p.Asp48ThrfsX17). The third patient, who had a previously described SAR1B mutation (p.Leu28ArgfsX7), also had a p.Leu21dup variant of the PCSK9 gene. The expression of the SAR1B gene in duodenal biopsies from an AD/CMRD patient was significantly decreased whereas the expression of the SAR1A gene was significantly increased, as compared to healthy individuals. The Sar1 proteins were present in decreased amounts in enterocytes in duodenal biopsies from the patients as compared to those from healthy subjects.
conclusionsAlthough the proteins encoded by the SAR1A and SAR1B genes are 90% identical, the increased expression of the SAR1A gene in AD/CMRD does not appear to compensate for the lack of the SAR1B protein. The PCSK9 variant, although reported to be associated with low levels of cholesterol, does not appear to exert any additional effect in this patient. The results provide further insight into the tissue-specific nature of AD/CMRD.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.