Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 23

1.

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.

J Biol Chem. 2014 Feb 14;289(7):4244-61. doi: 10.1074/jbc.M113.479980. Epub 2013 Dec 13.

PMID:
24338480
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Familial hypobetalipoproteinemia: analysis of three Spanish cases with two new mutations in the APOB gene.

Martín-Morales R, García-Díaz JD, Tarugi P, González-Santos P, Saavedra-Vallejo P, Magnolo L, Mesa-Latorre JM, di Leo E, Valdivielso P.

Gene. 2013 Nov 15;531(1):92-6. doi: 10.1016/j.gene.2013.08.049. Epub 2013 Aug 31.

PMID:
24001780
[PubMed - indexed for MEDLINE]
3.

Silencing of mammalian Sar1 isoforms reveals COPII-independent protein sorting and transport.

Cutrona MB, Beznoussenko GV, Fusella A, Martella O, Moral P, Mironov AA.

Traffic. 2013 Jun;14(6):691-708. doi: 10.1111/tra.12060. Epub 2013 Mar 15.

PMID:
23433038
[PubMed - indexed for MEDLINE]
4.

Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia.

Magnolo L, Najah M, Fancello T, Di Leo E, Pinotti E, Brini I, Gueddiche NM, Calandra S, Slimene NM, Tarugi P.

Gene. 2013 Jan 1;512(1):28-34. doi: 10.1016/j.gene.2012.09.117. Epub 2012 Oct 6.

PMID:
23043934
[PubMed - indexed for MEDLINE]
5.

Modulation of membrane rigidity by the human vesicle trafficking proteins Sar1A and Sar1B.

Loftus AF, Hsieh VL, Parthasarathy R.

Biochem Biophys Res Commun. 2012 Oct 5;426(4):585-9. doi: 10.1016/j.bbrc.2012.08.131. Epub 2012 Sep 4.

PMID:
22974979
[PubMed - indexed for MEDLINE]
6.

Low rate of production of apolipoproteins B100 and AI in 2 patients with Anderson disease (chylomicron retention disease).

Ouguerram K, Zaïr Y, Kasbi-Chadli F, Nazih H, Bligny D, Schmitz J, Aparicio T, Chétiveaux M, Magot T, Aggerbeck LP, Samson-Bouma ME, Krempf M.

Arterioscler Thromb Vasc Biol. 2012 Jun;32(6):1520-5. doi: 10.1161/ATVBAHA.112.245076. Epub 2012 Mar 22.

PMID:
22441101
[PubMed - indexed for MEDLINE]
Free Article
7.

The [corrected] SEC23-SEC31 [corrected] interface plays critical role for export of procollagen from the endoplasmic reticulum.

Kim SD, Pahuja KB, Ravazzola M, Yoon J, Boyadjiev SA, Hammamoto S, Schekman R, Orci L, Kim J.

J Biol Chem. 2012 Mar 23;287(13):10134-44. doi: 10.1074/jbc.M111.283382. Epub 2012 Feb 1. Erratum in: J Biol Chem. 2012 Sep 21;287(39):32860.

PMID:
22298774
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Anderson's disease/chylomicron retention disease in a Japanese patient with uniparental disomy 7 and a normal SAR1B gene protein coding sequence.

Okada T, Miyashita M, Fukuhara J, Sugitani M, Ueno T, Samson-Bouma ME, Aggerbeck LP.

Orphanet J Rare Dis. 2011 Nov 21;6:78. doi: 10.1186/1750-1172-6-78.

PMID:
22104167
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Hypobetalipoproteinemia: genetics, biochemistry, and clinical spectrum.

Tarugi P, Averna M.

Adv Clin Chem. 2011;54:81-107. Review.

PMID:
21874758
[PubMed - indexed for MEDLINE]
10.

Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk.

Calandra S, Tarugi P, Speedy HE, Dean AF, Bertolini S, Shoulders CC.

J Lipid Res. 2011 Nov;52(11):1885-926. doi: 10.1194/jlr.R017855. Epub 2011 Aug 23. Review.

PMID:
21862702
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

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.

Arterioscler Thromb Vasc Biol. 2011 Nov;31(11):2692-9. doi: 10.1161/ATVBAHA.111.233908.

PMID:
21836065
[PubMed - indexed for MEDLINE]
Free Article
12.

Molecular analysis and intestinal expression of SAR1 genes and proteins in Anderson's disease (Chylomicron retention disease).

Georges A, Bonneau J, Bonnefont-Rousselot D, Champigneulle J, Rabès JP, Abifadel M, Aparicio T, Guenedet JC, Bruckert E, Boileau C, Morali A, Varret M, Aggerbeck LP, Samson-Bouma ME.

Orphanet J Rare Dis. 2011 Jan 14;6:1. doi: 10.1186/1750-1172-6-1.

PMID:
21235735
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

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, Sassolas A, Roy CC, Deslandres C, Charcosset M, Castagnetti J, Pugnet-Chardon L, Moulin P, Labarge S, Bouthillier L, Lachaux A, Levy E; Department of Nutrition-Hepatogastroenterology, Hôpital Femme Mère Enfant, Bron, Université Lyon 1; Department of Pediatrics, CHU Sainte-Justine Research Center, Université de Montréal.

Orphanet J Rare Dis. 2010 Sep 29;5:24. doi: 10.1186/1750-1172-5-24. Review.

PMID:
20920215
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

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.

Metabolism. 2010 Apr;59(4):463-7. doi: 10.1016/j.metabol.2009.07.042. Epub 2009 Oct 20.

PMID:
19846172
[PubMed - indexed for MEDLINE]
15.

Chylomicron retention disease: a long term study of two cohorts.

Peretti N, Roy CC, Sassolas A, Deslandres C, Drouin E, Rasquin A, Seidman E, Brochu P, Vohl MC, Labarge S, Bouvier R, Samson-Bouma ME, Charcosset M, Lachaux A, Levy E.

Mol Genet Metab. 2009 Jun;97(2):136-42. doi: 10.1016/j.ymgme.2009.02.003. Epub 2009 Feb 20.

PMID:
19285442
[PubMed - indexed for MEDLINE]
16.

Novel missense mutations of SAR1B gene in an infant with chylomicron retention disease.

Treepongkaruna S, Chongviriyaphan N, Suthutvoravut U, Charoenpipop D, Choubtum L, Wattanasirichaigoon D.

J Pediatr Gastroenterol Nutr. 2009 Mar;48(3):370-3. No abstract available.

PMID:
19274794
[PubMed - indexed for MEDLINE]
17.

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.

Clin Genet. 2008 Dec;74(6):546-52. doi: 10.1111/j.1399-0004.2008.01069.x. Epub 2008 Sep 11.

PMID:
18786134
[PubMed - indexed for MEDLINE]
18.

Marinesco-Sjögren syndrome with atrophy of the brain stem tegmentum and dysplastic cytoarchitecture in the cerebral cortex.

Sakai K, Tada M, Yonemochi Y, Nakajima T, Onodera O, Takahashi H, Kakita A.

Neuropathology. 2008 Oct;28(5):541-6. doi: 10.1111/j.1440-1789.2008.00884.x. Epub 2008 Apr 11.

PMID:
18410272
[PubMed - indexed for MEDLINE]
19.

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.

Mol Genet Metab. 2008 Jan;93(1):74-84. Epub 2007 Oct 22.

PMID:
17945526
[PubMed - indexed for MEDLINE]
20.

Molecular diagnosis of hypobetalipoproteinemia: an ENID review.

Tarugi P, Averna M, Di Leo E, Cefalù AB, Noto D, Magnolo L, Cattin L, Bertolini S, Calandra S.

Atherosclerosis. 2007 Dec;195(2):e19-27. Epub 2007 Jun 14. Review.

PMID:
17570373
[PubMed - indexed for MEDLINE]

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Loading ...
Write to the Help Desk