Primary deficiency of microsomal triglyceride transfer protein in human abetalipoproteinemia is associated with loss of CD1 function

Abetalipoproteinemia (ABL) is a rare Mendelian disorder of lipid metabolism due to genetic deficiency in microsomal triglyceride transfer protein (MTP). It is associated with defects in MTP-mediated lipid transfer onto apolipoprotein B (APOB) and impaired secretion of APOB-containing lipoproteins. R...

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Main Authors: Zeissig, Sebastian, Dougan, Stephanie K., Barral, Duarte C., Junker, Yvonne, Chen, Zhangguo, Kaser, Arthur, Ho, Madelyn, Mandel, Hannah, McIntyre, Adam, Kennedy, Susan M., Painter, Gavin F., Veerapen, Natacha, Besra, Gurdyal S., Cerundolo, Vincenzo, Yue, Simon, Beladi, Sarah, Behar, Samuel M., Chen, Xiuxu, Gumperz, Jenny E., Breckpot, Karine, Raper, Anna, Baer, Amanda, Exley, Mark A., Hegele, Robert A., Cuchel, Marina, Rader, Daniel J., Davidson, Nicholas O., Blumberg, Richard S.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2010
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2912200/
https://ncbi.nlm.nih.gov/pubmed/20592474
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI42703
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