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2011, Número 2

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Ann Hepatol 2011; 10 (2)


Identification of a novel mutation of MTP gene in a patient with abetalipoproteinemia

Najafi SM, Sabbaghian M, Mahjoob F, Cefalù AB, Averna MR, Rezaei N
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Idioma: Español
Referencias bibliográficas: 19
Paginas: 221-226
Archivo PDF: 113.66 Kb.


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REFERENCIAS (EN ESTE ARTÍCULO)

  1. Zamel R, Khan R, Pollex RL, Hegele RA. Abetalipoproteinemia: two case reports and literature review. Orphanet J Rare Dis 2008; 3-19.

  2. Wetterau JR, Aggerbeck LP, Bouma ME, Eisenberg C, Munck A, Hermier M, et al. Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia. Science 1992; 258: 999-1001.

  3. Shoulders CC, Brett DJ, Bayliss JD, Narcisi TM, Jarmuz A, Grantham TT, et al. Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein. Hum Mol Genet 1993; 2: 2109-16.

  4. Berriot-Varoqueaux N, Aggerbeck LP, Samson-Bouma M, Wetterau JR. The role of the microsomal triglygeride transfer protein in abetalipoproteinemia. Annu Rev Nutr 2000; 20: 663-97.

  5. Hussain MM, Shi J, Dreizen P. Microsomal triglyceride transfer protein and its role in apo B-lipoprotein assembly. J Lipid Res 2003; 44: 22-32.

  6. Benayouna L, Granotc E, Rizel L. Abetalipoproteinemia: Evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient. Mol Genet Metabol 2007; 90: 453-7.

  7. Hixson JE, Vernier DT. Restriction isotyping of human apolipoprotein E by gene amplication and cleavage with HhaI. J Lipid Res 1990; 31: 545-8.

  8. Ramensky V, Bork P, Sunyaev S. Human non-synonymous SNPs: server and survey. Nucleic Acid Res 2002; 30: 3894-900.

  9. Di Leo E, Lancellotti S, Penacchioni JY, Cefalù AB, Averna M, Pisciotta L, Bertolini S, et al. Mutations in MTP gene in abeta- and hypobeta-lipoproteinemia. Atherosclerosis 2005; 180: 311-18.

  10. Jun DW, Han JH, Jang EC, et al. Polymorphisms of microsomal triglyceride transfer protein gene and phosphatidylethanolamine N-methyltransferase gene in alcoholic and nonalcoholic fatty liver disease in Koreans. Eur J Gastroenterol Hepatol 2009; 21: 667-72.

  11. Okumura K, Imamura A, Murakami R, et al. Microsomal triglyceride transfer protein gene polymorphism strongly influences circulating malondialdehyde-modified low-density lipoprotein. Metabolism 2009; 58: 1306-11.

  12. Gambino R, Bo S, Musso G, et al. Microsomal triglyceride transfer protein 493-T variant is associated with resistin levels and C-reactive protein. Clin Biochem 2007; 40: 1219-24.

  13. Zampino R, Ingrosso D, Durante-Mangoni E, et al. Microsomal triglyceride transfer protein (MTP) - 493G/T gene polymorphism contributes to fat liver accumulation in HCV genotype 3 infected patients. J Viral Hepat 2008; 15: 740-6.

  14. Schgoer W, Eller P, Mueller T, et al. The MTP - 493TT genotype is associated with peripheral arterial disease: results from the Linz Peripheral Arterial Disease (LIPAD) Study. Clin Biochem 2008; 41: 712-16.

  15. Zeissig S, Dougan SK, Barral DC. Primary deficiency of microsomal triglyceride transfer protein in human abetalipoproteinemia is associated with loss of CD1 function. J Clin Invest 2010; 120: 2889-9.

  16. Bradbury P, Mann CJ, Köchl S, Anderson TA, Chester SA, Hancock JM, Ritchie PJ, et al. A common binding site on the microsomal triglyceride transfer protein for apolipoprotein B and protein disulfide isomerase. J Biol Chem 1999; 274: 3159-64.

  17. Tarugi P, Averna M, Di Leo E, Cefalù AB, Noto D, Magnolo L, Cattin L, et al. Molecular diagnosis of hypobetalipoproteinemia: an ENID review. Atherosclerosis 2007; 195: e19-e27

  18. Berriot-Varoqueaux N, Dannoura AH, Moreau A, Verthier N, Sassolas A, Cadiot G, Lachaux A, et al. Apolipoprotein B48 glycosylation in abetalipoproteinemia and Anderson’s disease. Gastroenterology 2001; 121: 1101-8.

  19. Wolff JA, Bauman WA. Studies concerning acanthocytosis: A new genetic syndrome with absent beta lipoprotein. Am J Dis Child 1961; 102: 478-9.




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