PMID: 23288845

Karunakaran D, Kockx M, Owen DM, Burnett JR, Jessup W, Kritharides L
Protein kinase C controls vesicular transport and secretion of apolipoprotein E from primary human macrophages.
J Biol Chem. 2013 Feb 15;288(7):5186-97. doi: 10.1074/jbc.M112.428961. Epub 2013 Jan 3., [PubMed]
Sentences
No. Mutations Sentence Comment
131 ABCA1 p.Arg587Trp
X
ABCA1 p.Arg587Trp 23288845:131:297
status: NEW
view ABCA1 p.Arg587Trp details
ABCA1 p.Arg1270*
X
ABCA1 p.Arg1270* 23288845:131:231
status: NEW
view ABCA1 p.Arg1270* details
 HMDMs were isolated from three separate Tangier disease subjects, who have documented extremely low HDL cholesterol, with homozygous and compound heterozygous mutations in the ABCA1 gene (Patient 1, homozygous for c.4121Cb0e;T (R1270X) in exon 27 (27, 62); Patients 2 and 3, c.1759Cb0e;T (p.Arg587Trp) in exon 14 and c.4957_4961del (p.Val1653CysfsX48) in exon 37 (63)). Login to comment