ABCB4: Insights from pathobiology into therapy

Autor: Thomas Falguières, Michèle Maurice, Chantal Housset, Tounsia Aït-Slimane

Publikováno v: Clinics and Research in Hepatology and Gastroenterology. 38:557-563

Adenosine triphosphate (ATP)-binding cassette, sub-family B, member 4 (ABCB4), also called multidrug resistance 3 (MDR3), is a member of the ATP-binding cassette transporter superfamily, which is localized at the canalicular membrane of hepatocytes,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ccedc41502645ee0a04346f8d6e5723b
https://doi.org/10.1016/j.clinre.2014.03.001

Seipin deficiency alters fatty acid Δ9 desaturation and lipid droplet formation in Berardinelli-Seip congenital lipodystrophy

Autor: Matthieu Prot, Sandra Grès, Yves Chrétien, Michèle Maurice, Jean-Sébastien Saulnier-Blache, Odile Colard, Jocelyne Magré, Mona Nemani, Haquima El Mourabit, Jacqueline Capeau, Anne-Marie Durand-Schneider, Emilie Boutet, Eliane Khallouf, Claude Wolf

Publikováno v: Biochimie. 91:796-803

Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare recessive disease characterized by near absence of adipose tissue and severe insulin resistance. In most cases, BSCL is due to loss-of-function mutations in the genes encoding either seipin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::876c6faed9e7c2f243b585a499ba693a
https://doi.org/10.1016/j.biochi.2009.01.011

A functional classification of ABCB4 variations causing progressive familial intrahepatic cholestasis type 3

Autor: Anne Davit-Spraul, Claire Dossier, Chantal Housset, Jean-Louis Delaunay, Julien Gautherot, Tounsia Aït-Slimane, Thomas Falguières, Michèle Maurice, Emmanuel Jacquemin, Anne-Marie Durand-Schneider

Publikováno v: Hepatology
Hepatology, 2015, 63 (5), pp.1620-1631. ⟨10.1002/hep.28300⟩
Hepatology, Wiley-Blackwell, 2015, 63 (5), pp.1620-1631. ⟨10.1002/hep.28300⟩

International audience; Progressive familial intrahepatic cholestasis type 3 is caused by biallelic variations of ABCB4, most often (≥70%) missense. In this study, we examined the effects of 12 missense variations identified in progressive familial

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7230be2093dec065409832e6d0208a8c
https://hal.sorbonne-universite.fr/hal-01258764/file/Delaunay_2015_A_functional.pdf

Contribution of Cubilin and Amnionless to Processing and Membrane Targeting of Cubilin–Amnionless Complex

Autor: Søren K. Moestrup, Renata Kozyraki, Michèle Maurice, Germain Trugnan, Pierre J. Verroust, Gwénaëlle Coudroy, Mette Madsen, Jakub Gburek

Publikováno v: Journal of the American Society of Nephrology. 16:2330-2337

Cubilin is a peripheral apical membrane receptor for multiple ligands that are taken up in several absorptive epithelia. Recently, amnionless (AMN) was identified to form a functional receptor complex with cubilin. By expression in transfected polari

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15af73f7cfe3bd2b75c79410ee69bef2
https://doi.org/10.1681/asn.2004110925

The cytoplasmic/transmembrane domain of dipeptidyl IV, a type II glycoprotein, contains an apical targeting signal that does not specifically interact with lipid rafts

Autor: Germain Trugnan, Jack A.M. Fransen, James W. Goding, Michèle Maurice, Tounsia Ait Slimane, Christelle Lenoir, Jean-Louis Delaunay, Valérie Bello, Serge Chwetzoff

Publikováno v: Experimental Cell Research, 270, 45-55
Experimental Cell Research, 270, pp. 45-55

We investigated the signals involved in the apical targeting of dipeptidyl peptidase IV (DPP IV/CD26), an archetypal type II transmembrane glycoprotein. A secretory construct, corresponding to the DPP IV ectodomain, was first stably expressed in both

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c5d3f8b2f8d8a7c5cf0e6b9df5563bb
https://hdl.handle.net/2066/186931