PMID: 15469992

Bared SM, Buechler C, Boettcher A, Dayoub R, Sigruener A, Grandl M, Rudolph C, Dada A, Schmitz G
Association of ABCA1 with syntaxin 13 and flotillin-1 and enhanced phagocytosis in tangier cells.
Mol Biol Cell. 2004 Dec;15(12):5399-407. Epub 2004 Oct 6., [PubMed]
Sentences
No. Mutations Sentence Comment
49 ABCA1 p.Lys171*
X
ABCA1 p.Lys171* 15469992:49:31
status: NEW
view ABCA1 p.Lys171* details
Patient TD1 bears a homozygous K171X mutation, patients TD3 and TD5 display mutations that have been published previously (Bodzioch et al., 1999). Login to comment
50 ABCA1 p.Lys171*
X
ABCA1 p.Lys171* 15469992:50:31
status: NEW
view ABCA1 p.Lys171* details
Patient TD1 bears a homozygous K171X mutation, patients TD3 and TD5 display mutations that have been published previously (Bodzioch et al., 1999). Login to comment
157 ABCA1 p.Lys171*
X
ABCA1 p.Lys171* 15469992:157:210
status: NEW
view ABCA1 p.Lys171* details
To further support the hypothesis that ABCA1 may regulate phagocytosis, the phagocytic activity of fibroblasts from control donors and fibroblasts isolated from the Tangier patients TD1 (yielding a mutation at K171X), TD3 II:4 and TD5 III:4 (Bodzioch et al., 1999) was measured by flow cytometry using fluorescent yellow green-labeled phagobeads. Login to comment
159 ABCA1 p.Lys171*
X
ABCA1 p.Lys171* 15469992:159:210
status: NEW
view ABCA1 p.Lys171* details
To further support the hypothesis that ABCA1 may regulate phagocytosis, the phagocytic activity of fibroblasts from control donors and fibroblasts isolated from the Tangier patients TD1 (yielding a mutation at K171X), TD3 II:4 and TD5 III:4 (Bodzioch et al., 1999) was measured by flow cytometry using fluorescent yellow green-labeled phagobeads. Login to comment