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Article

Characterization of a mutant form of human apolipoprotein B (Thr26_Tyr27del) associated with familial hypobetalipoproteinemia.

Biochimica et biophysica acta - 1 Apr 2016

Magnolo Lucia, Noto Davide, Cefalù Angelo B, Averna Maurizio, Calandra Sebastiano, Yao Zemin, Tarugi Patrizia

Abstract excerpt

We have previously identified a deletion mutant of human apoB [apoB (Thr26_Tyr27del)] in a subject with primary hypobetalipoproteinemia. The present study determined the effect of Thr26_Tyr27del mutation on apoB secretion using transfected McA-RH7777 cells. Transient or stable transfection of apoB-48 containing the Thr26_Tyr27del mutation showed drastically reduced secretion of the mutant as compared to wild-type...

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Identifiers

PMID: 26825690
DOI: 10.1016/j.bbalip.2016.01.014

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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