Nonsynonymous Mutations within APOB in Human Familial Hypobetalipoproteinemia: EVIDENCE FOR FEEDBACK INHIBITION OF LIPOGENESIS AND POSTENDOPLASMIC RETICULUM DEGRADATION OF APOLIPOPROTEIN B

Five nontruncating missense APOB mutations, namely A31P, G275S, L324M, G912D, and G945S, were identified in heterozygous carriers of familial hypobetalipoproteinemia (FHBL) in the Italian population. To test that the FHBL phenotype was a result of impaired hepatic secretion of mutant apoB proteins,...

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Hauptverfasser: Zhong, Shumei, Magnolo, Antonia Lucia, Sundaram, Meenakshi, Zhou, Hu, Yao, Erik F., Di Leo, Enza, Loria, Paola, Wang, Shuai, Bamji-Mirza, Michelle, Wang, Lisheng, McKnight, C. Jamie, Figeys, Daniel, Wang, Yuwei, Tarugi, Patrizia, Yao, Zemin
Format: Artigo
Sprache:Inglês
Veröffentlicht: American Society for Biochemistry and Molecular Biology 2010
Schlagworte:
Molecular Bases of Disease
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2825441/
https://ncbi.nlm.nih.gov/pubmed/20032471
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M109.060467
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