ABCA1 p.Arg1270*
[switch to full view]Comments [show]
None has been submitted yet.
PMID: 19589783
[PubMed]
Kockx M et al: "Cyclosporin A decreases apolipoprotein E secretion from human macrophages via a protein phosphatase 2B-dependent and ATP-binding cassette transporter A1 (ABCA1)-independent pathway."
No.
Sentence
Comment
40
Monocyte-derived macrophages with dysfunctional ABCA1 were obtained from male and female siblings with Tangier disease carrying a novel ABCA1 mutation c.4121CϾT, which converts arginine 1270 into a stop codon (R1270X) (23).
X
ABCA1 p.Arg1270* 19589783:40:216
status: NEW38 Monocyte-derived macrophages with dysfunctional ABCA1 were obtained from male and female siblings with Tangier disease carrying a novel ABCA1 mutation c.4121Cb0e;T, which converts arginine 1270 into a stop codon (R1270X) (23).
X
ABCA1 p.Arg1270* 19589783:38:216
status: NEW
PMID: 19723515
[PubMed]
Hooper AJ et al: "A novel ABCA1 nonsense mutation, R1270X, in Tangier disease associated with an unrecognised bleeding tendency."
No.
Sentence
Comment
0
Case report A novel ABCA1 nonsense mutation, R1270X, in Tangier disease associated with an unrecognised bleeding tendency Amanda J. Hooper a,b , Ken Robertson a , Lydia Ng c , Joseph S. Kattampallil c , Donald Latchem d , Peter C. Willsher e , James Thom f , Ross I. Baker b,f , John R. Burnett a,b, Ìe; a Department of Core Clinical Pathology & Biochemistry, Royal Perth Hospital, Perth, Australia b School of Medicine & Pharmacology, University of Western Australia, Perth, Australia c Department of Histopathology, Western Diagnostic Pathology, Perth, Australia d Coastal Cardiology, Perth, Australia e Mount Hospital, Perth, Australia f Department of Haematology, Royal Perth Hospital, Perth, Australia a b s t r a c t a r t i c l e i n f o Article history: Received 21 May 2009 Received in revised form 31 July 2009 Accepted 24 August 2009 Available online 31 August 2009 Keywords: Tangier disease ABCA1 Mutation Hypoalphalipoproteinaemia The ATP binding cassette transporter A1 (ABCA1) is involved in the regulation of lipid trafficking and export of cholesterol from cells to high density lipoprotein (HDL).
X
ABCA1 p.Arg1270* 19723515:0:45
status: NEW6 DNA sequence analysis revealed the subject to be a homozygote for a novel ABCA1 mutation c.4121C>T, which changes arginine 1270 to a stop codon (R1270X).
X
ABCA1 p.Arg1270* 19723515:6:145
status: NEW7 In conclusion, we describe a case of Tangier disease in association with an unrecognised bleeding tendency, in a man homozygous for a novel ABCA1 gene mutation, R1270X.
X
ABCA1 p.Arg1270* 19723515:7:161
status: NEW20 Here, we report a case of Tangier disease in association with an unrecognised bleeding tendency, in a man homozygous for a novel ABCA1 gene mutation, R1270X.
X
ABCA1 p.Arg1270* 19723515:20:150
status: NEW44 DNA sequence analysis of the proband's ABCA1 gene revealed that he was homozygous for a novel mutation c.4121C>T, which is predicted to change arginine 1270 to a stop codon (R1270X) (Fig. 3).
X
ABCA1 p.Arg1270* 19723515:44:174
status: NEW55 Discussion We report a novel ABCA1 gene mutation, R1270X, in a case of Tangier disease with a bleeding tendency.
X
ABCA1 p.Arg1270* 19723515:55:50
status: NEW57 The R1270X mutation is predicted to truncate ABCA1 such that it is missing the C-terminal ~40% of the protein, which includes the second set of membrane-spanning domains.
X
ABCA1 p.Arg1270* 19723515:57:4
status: NEW74 In this report, we have described a novel nonsense mutation in ABCA1, R1270X, in Tangier disease associated with an unrecognised bleeding tendency.
X
ABCA1 p.Arg1270* 19723515:74:70
status: NEW
PMID: 23288845
[PubMed]
Karunakaran D et al: "Protein kinase C controls vesicular transport and secretion of apolipoprotein E from primary human macrophages."
No.
Sentence
Comment
131
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)).
X
ABCA1 p.Arg1270* 23288845:131:231
status: NEW
No.
Sentence
Comment
1051
A patient homozygous for the R1270X in the ABCA1 gene mutation presented with a bleeding tendency and anemia secondary to spontaneous splenic hematoma (468).
X
ABCA1 p.Arg1270* 26546829:1051:29
status: NEW