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,...

Descripció completa

Guardat en:
Dades bibliogràfiques
Autors principals: 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
Idioma:Inglês
Publicat: American Society for Biochemistry and Molecular Biology 2010
Matèries:
Molecular Bases of Disease
Accés en línia: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
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars