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Very low HDL levels: clinical assessment and management.
Bonilha I, Luchiari B, Nadruz W, Sposito AC. Bonilha I, et al. Arch Endocrinol Metab. 2023 Jan 18;67(1):3-18. doi: 10.20945/2359-3997000000585. Arch Endocrinol Metab. 2023. PMID: 36651718 Free PMC article. Review.
In individuals with very low high-density lipoprotein (HDL-C) cholesterol, such as Tangier disease, LCAT deficiency, and familial hypoalphalipoproteinemia, there is an increased risk of premature atherosclerosis. ...
In individuals with very low high-density lipoprotein (HDL-C) cholesterol, such as Tangier disease, LCAT deficiency, and familial …
A novel splicing mutation in the ABCA1 gene, causing Tangier disease and familial HDL deficiency in a large family.
Maranghi M, Truglio G, Gallo A, Grieco E, Verrienti A, Montali A, Gallo P, Alesini F, Arca M, Lucarelli M. Maranghi M, et al. Biochem Biophys Res Commun. 2019 Jan 8;508(2):487-493. doi: 10.1016/j.bbrc.2018.11.064. Epub 2018 Nov 30. Biochem Biophys Res Commun. 2019. PMID: 30503498 Free article.
Heterozygous carriers of this mutation also showed the clinical phenotype of familial HDL deficiency. Our study extends the catalog of pathogenic intronic mutations affecting ABCA1 pre-mRNA splicing. In a large family, a clear demonstration that the same muta …
Heterozygous carriers of this mutation also showed the clinical phenotype of familial HDL deficiency. Our study extends …
ABCA1 deficiency causes tissue-specific dysregulation of the SREBP2 pathway in mice.
Yamauchi Y, Abe-Dohmae S, Iwamoto N, Sato R, Yokoyama S. Yamauchi Y, et al. Biochim Biophys Acta Mol Cell Biol Lipids. 2024 Dec;1869(8):159546. doi: 10.1016/j.bbalip.2024.159546. Epub 2024 Jul 31. Biochim Biophys Acta Mol Cell Biol Lipids. 2024. PMID: 39089642 Free article.
ABCA1 plays an essential role in the formation of high-density lipoprotein (HDL), and its mutations cause Tangier disease (TD), a familial HDL deficiency. In addition to the disappearance of HDL, TD patients exhibit cholesterol deposition in peripheral tissue …
ABCA1 plays an essential role in the formation of high-density lipoprotein (HDL), and its mutations cause Tangier disease (TD), a familia …
Structure of the Human Lipid Exporter ABCA1.
Qian H, Zhao X, Cao P, Lei J, Yan N, Gong X. Qian H, et al. Cell. 2017 Jun 15;169(7):1228-1239.e10. doi: 10.1016/j.cell.2017.05.020. Epub 2017 Jun 8. Cell. 2017. PMID: 28602350 Free article.
Mutations of human ABCA1 are associated with Tangier disease and familial HDL deficiency. Here, we report the cryo-EM structure of human ABCA1 with nominal resolutions of 4.1 A for the overall structure and 3.9 A for the massive extracellular domain. ...
Mutations of human ABCA1 are associated with Tangier disease and familial HDL deficiency. Here, we report the cryo-EM s …
Reduced platelet count, but no major platelet function abnormalities, are associated with loss-of-function ATP-binding cassette-1 gene mutations.
Minuz P, Meneguzzi A, Femia EA, Fava C, Calabria S, Scavone M, Benati D, Poli G, Zancanaro C, Calandra S, Lucchi T, Cattaneo M. Minuz P, et al. Clin Sci (Lond). 2017 Jul 24;131(16):2095-2107. doi: 10.1042/CS20170195. Print 2017 Aug 15. Clin Sci (Lond). 2017. PMID: 28634189 Review.
Loss-of-function mutations of the the ATP-binding cassette-1 (ABCA1) gene are the cause of Tangier disease (TD) in homozygous subjects and familial HDL deficiency (FHD) in heterozygous subjects. These disorders are characterized by reduced plasma HDL-choleste …
Loss-of-function mutations of the the ATP-binding cassette-1 (ABCA1) gene are the cause of Tangier disease (TD) in homozygous subjects and …
No benefit of HDL mimetic CER-001 on carotid atherosclerosis in patients with genetically determined very low HDL levels.
Zheng KH, Kaiser Y, van Olden CC, Santos RD, Dasseux JL, Genest J, Gaudet D, Westerink J, Keyserling C, Verberne HJ, Leitersdorf E, Hegele RA, Descamps OS, Hopkins P, Nederveen AJ, Stroes ESG. Zheng KH, et al. Atherosclerosis. 2020 Oct;311:13-19. doi: 10.1016/j.atherosclerosis.2020.08.004. Epub 2020 Aug 29. Atherosclerosis. 2020. PMID: 32919280 Free article. Clinical Trial.
METHODS: In this multicenter, randomized clinical trial, we recruited patients with familial hypoalphalipoproteinemia (due to ABCA1 and/or APOA1 loss-of-function variants). ...
METHODS: In this multicenter, randomized clinical trial, we recruited patients with familial hypoalphalipoproteinemia (due to …