Article
A severe form of abetalipoproteinemia caused by new splicing mutations of microsomal triglyceride transfer protein (MTTP).
Human mutation - 1 Jul 2011
Pons Véronique, Rolland Corinne, Nauze Michel, Danjoux Marie, Gaibelet Gérald, Durandy Anne, Sassolas Agnès, Lévy Emile, Tercé François, Collet Xavier, Mas Emmanuel
Abstract excerpt
Abetalipoproteinemia is a rare autosomal recessive disease characterized by low lipid levels and by the absence of apoB-containing lipoproteins. It is the consequence of microsomal triglyceride transfer protein (MTTP) deficiency. We report two patients with new MTTP mutations. We studied their functional consequences on the triglyceride transfer function using duodenal biopsies. We transfected MTTP mutants in...
Topics
- Abetalipoproteinemia
- Agammaglobulinemia
- Alternative Splicing
- Amino Acid Sequence
- Carrier Proteins
- Child
- Endoplasmic Reticulum
- Exons
- Female
- HeLa Cells
- Hep G2 Cells
- Humans
- Infant