Plasma and fibroblasts of Tangier disease patients are disturbed in transferring phospholipids onto apolipoprotein A-I

Autor: Arnold von Eckardstein, Ali Chirazi, Susanne Schuler-Lüttmann, Michael Walter, John J.P. Kastelein, Jürgen Geisel, José T. Real, Roberto Miccoli, Giorgio Noseda, Gunnar Höbbel, Gerd Assmann

Publikováno v: Journal of Lipid Research, Vol 39, Iss 5, Pp 987-998 (1998)

Plasmas of patients with Tangier disease (TD) lack lipid-rich α-HDL which, in normal plasma, constitutes the majority of high density lipoprotein (HDL). Residual amounts of apolipoprotein (apo)A-I in TD plasma occur as lipid-poor or even lipid-free

Externí odkaz: https://doaj.org/article/55fb06fd4bb7418596d21b5e4f6b0c50

A novel splicing mutation in the ABCA1 gene, causing Tangier disease and familial HDL deficiency in a large family

Autor: Maranghi, Marianna ^{a, 1}, Truglio, Gessica ^{a, b, 1}, Gallo, Antonio ^a, Grieco, Elvira ^a, Verrienti, Antonella ^a, Montali, Anna ^a, Gallo, Pietro ^c, Alesini, Francesco ^c, Arca, Marcello ^a, Lucarelli, Marco ^{b, d, ∗}

Publikováno v: In Biochemical and Biophysical Research Communications 8 January 2019 508(2):487-493

A novel splicing mutation in the ABCA1 gene, causing Tangier disease and familial HDL deficiency in a large family

Autor: Anna Montali, Pietro Gallo, Marianna Maranghi, Antonio Gallo, Francesco Alesini, Marco Lucarelli, Marcello Arca, Antonella Verrienti, Elvira Grieco, Gessica Truglio

Publikováno v: Biochemical and Biophysical Research Communications
Biochemical and Biophysical Research Communications, Elsevier, 2019, 508 (2), pp.487-493. ⟨10.1016/j.bbrc.2018.11.064⟩

International audience; Tangier disease is a rare disorder of lipoprotein metabolism that presents with extremely low levels of HDL cholesterol and apoprotein A-I. It is caused by mutations in the ATP-binding cassette transporter A1 (ABCA1) gene. Cli

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e6fea00d5b91610243816dade7527ef
https://hal.sorbonne-universite.fr/hal-02136966/file/1-s2.0-S0006291X18324781-main.pdf

Accumulation of RhoA, RhoB, RhoG, and Rac1 in Fibroblasts from Tangier Disease Subjects Suggests a Regulatory Role of Rho Family Proteins in Cholesterol Efflux

Autor: Utech, Markus ^a, Höbbel, Gunnar ^b, Rust, Stephan ^c, Reinecke, Holger ^{b, c}, Assmann, Gerd ^{a, b}, Walter, Michael ^{a, b, 1}

Publikováno v: In Biochemical and Biophysical Research Communications 12 January 2001 280(1):229-236

Reduced platelet count, but no major platelet function abnormalities, are associated with loss of function ATP-binding cassette-1 (ABCA1) gene mutations

Autor: Minuz, Pietro, Meneguzzi, Alessandra, Femia, Eti Alessandra, Fava, Cristiano, Calabria, Stefano, Scavone, Mariangela, Benati, Donatella, Poli, Giovanni, Zancanaro, Carlo, Calandra, Sebastiano, Lucchi, Tiziano, Cattaneo, Marco

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______1943::4dd2673872e4f979e93c2c8af5ef1825
http://hdl.handle.net/11562/967650