Tarugi P - Search Results

1

Structure-function analyses of microsomal triglyceride transfer protein missense mutations in abetalipoproteinemia and hypobetalipoproteinemia subjects.

Walsh MT, Di Leo E, Okur I, Tarugi P, Hussain MM. Walsh MT, et al. Among authors: tarugi p. Biochim Biophys Acta. 2016 Nov;1861(11):1623-1633. doi: 10.1016/j.bbalip.2016.07.015. Epub 2016 Jul 31. Biochim Biophys Acta. 2016. PMID: 27487388

2

Hypobetalipoproteinemia with an apparently recessive inheritance due to a "de novo" mutation of apolipoprotein B.

Lancellotti S, Di Leo E, Penacchioni JY, Balli F, Viola L, Bertolini S, Calandra S, Tarugi P. Lancellotti S, et al. Among authors: tarugi p. Biochim Biophys Acta. 2004 Jan 20;1688(1):61-7. doi: 10.1016/j.bbadis.2003.11.002. Biochim Biophys Acta. 2004. PMID: 14732481 Free article.

3

Novel Abetalipoproteinemia Missense Mutation Highlights the Importance of the N-Terminal β-Barrel in Microsomal Triglyceride Transfer Protein Function.

Walsh MT, Iqbal J, Josekutty J, Soh J, Di Leo E, Özaydin E, Gündüz M, Tarugi P, Hussain MM. Walsh MT, et al. Among authors: tarugi p. Circ Cardiovasc Genet. 2015 Oct;8(5):677-87. doi: 10.1161/CIRCGENETICS.115.001106. Epub 2015 Jul 29. Circ Cardiovasc Genet. 2015. PMID: 26224785 Free PMC article.

4

Microsomal Triglyceride Transfer Protein Transfers and Determines Plasma Concentrations of Ceramide and Sphingomyelin but Not Glycosylceramide.

Iqbal J, Walsh MT, Hammad SM, Cuchel M, Tarugi P, Hegele RA, Davidson NO, Rader DJ, Klein RL, Hussain MM. Iqbal J, et al. Among authors: tarugi p. J Biol Chem. 2015 Oct 23;290(43):25863-75. doi: 10.1074/jbc.M115.659110. Epub 2015 Sep 8. J Biol Chem. 2015. PMID: 26350457 Free PMC article.

5

Pediatric gallstone disease in familial hypobetalipoproteinemia.

Lancellotti S, Zaffanello M, Di Leo E, Costa L, Lonardo A, Tarugi P. Lancellotti S, et al. Among authors: tarugi p. J Hepatol. 2005 Jul;43(1):188-91. doi: 10.1016/j.jhep.2005.03.012. J Hepatol. 2005. PMID: 15894400

6

Mutations in MTP gene in abeta- and hypobeta-lipoproteinemia.

Di Leo E, Lancellotti S, Penacchioni JY, Cefalù AB, Averna M, Pisciotta L, Bertolini S, Calandra S, Gabelli C, Tarugi P. Di Leo E, et al. Among authors: tarugi p. Atherosclerosis. 2005 Jun;180(2):311-8. doi: 10.1016/j.atherosclerosis.2004.12.004. Epub 2005 Jan 19. Atherosclerosis. 2005. PMID: 15910857

7

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. Tarugi P, et al. Atherosclerosis. 2007 Dec;195(2):e19-27. doi: 10.1016/j.atherosclerosis.2007.05.003. Epub 2007 Jun 14. Atherosclerosis. 2007. PMID: 17570373 Review.

8

Functional analysis of two novel splice site mutations of APOB gene in familial hypobetalipoproteinemia.

Di Leo E, Magnolo L, Pinotti E, Martini S, Cortella I, Vitturi N, Rabacchi C, Wunsch A, Pucci F, Bertolini S, Calandra S, Tarugi P. Di Leo E, et al. Among authors: tarugi p. Mol Genet Metab. 2009 Feb;96(2):66-72. doi: 10.1016/j.ymgme.2008.10.016. Epub 2008 Dec 11. Mol Genet Metab. 2009. PMID: 19084451

9

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. Magnolo L, et al. Among authors: tarugi p. Gene. 2013 Jan 1;512(1):28-34. doi: 10.1016/j.gene.2012.09.117. Epub 2012 Oct 6. Gene. 2013. PMID: 23043934

10

The Janus-faced manifestations of homozygous familial hypobetalipoproteinemia due to apolipoprotein B truncations.

Di Leo E, Eminoglu T, Magnolo L, Bolkent MG, Tümer L, Okur I, Tarugi P. Di Leo E, et al. Among authors: tarugi p. J Clin Lipidol. 2015 May-Jun;9(3):400-5. doi: 10.1016/j.jacl.2015.01.005. Epub 2015 Jan 28. J Clin Lipidol. 2015. PMID: 26073401

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