Results 1 to 10 of about 3,582 (133)

Novel <i>ABCG5</i> and <i>ABCG8</i> Variants in Sitosterolemia: Insights Into Haemolysis, Calcium Dysregulation and Therapeutic Challenges. [PDF]

Hum Mutat
Sitosterolemia is a rare autosomal recessive lipid metabolic disorder caused by mutations in ABCG5 or ABCG8, leading to pathological accumulation of dietary plant sterols. The condition is clinically heterogeneous, presenting with xanthomas, premature atherosclerosis and haematological abnormalities such as stomatocytosis, haemolytic anaemia and ...
Warang P, Dongerdiye R, Dehadrai P, Kamble P, Samanpalliwar N, Madkaikar M, Shanmukhaiah C, Kedar PS.   +7 more
europepmc   +2 more sources

Correlation of serum biochemical characteristics and ABCG8 genetic variant (rs 11887534) with gall stone compositions and risk of gallstone disease in Egyptian patients

Asian Journal of Surgery, 2023
Background: The overexpression of the cholesterol transporter: ATP-binding cassette transporter (ABCG8) due to the effect of ABCG8 genetic variant (rs11887534) leads to the precipitation of cholesterol crystals and gallstone disease (GSD).
Doaa Mamdouh Aly
exaly   +3 more sources

From Bernard-Soulier syndrome to sitosterolemia: the role of genetic analysis in bleeding diathesis [PDF]

Thrombosis Journal
Bleeding diathesis’ diagnosis can be challenging due to the high number of disorders with hemorrhagic symptomatology. Sitosterolemia is a rare disease characterized by increased sterols plasma levels and cardiovascular, cutaneous, articular, and ...
Cristina Marrero-Cepeda, Gloria García-Donas, Francisco Javier Rodríguez-Martorell, Ramiro Núñez-Vázquez, Concepción Prats-Martín, José Antonio Pérez-Simón, María Teresa Vargas   +6 more
doaj   +2 more sources

Nitroxoline mitigates hepatic steatosis by enhancing cholesterol efflux and promoting bile acid synthesis through LRH-1 signaling [PDF]

Lipids in Health and Disease
Background Metabolic associated fatty liver disease (MAFLD) has emerged as the most common chronic liver disease worldwide. However, effective pharmacological treatments remain limited.
Wen-Cheng Liu, Chih-Feng Lien, Yi-Jhen Huang, Pei-Yu Lien, Sy-Jou Chen, Chin-Sheng Lin, Rou-Ling Cho, Yi-Ping Chuang   +7 more
doaj   +2 more sources

Clinical features and genetic analysis of a Brazilian patient with sitosterolemia: a case report [PDF]

Archives of Endocrinology and Metabolism
Sitosterolemia is a rare genetic lipid disorder caused by mutations in the ABCG5/ABCG8, genes. It is characterized by plasmatic plant sterols accumulation, formation of tendon and tuberous xanthomas and early onset coronary artery disease.
Felipe Augusto Azevedo Leão, Leticia Ferreira Gontijo Silveira, Rodrigo Rezende Arantes, Milena Maria Moreira Guimarães   +3 more
doaj   +2 more sources

ABCG5 and ABCG8 gene variations associated with sitosterolemia and platelet dysfunction

Platelets, 2021
JOSÉ Maria Bastida, Rocio Benito, JOSÉ Ramon Gonzalez-Porras   +2 more
exaly   +2 more sources

A mouse model of sitosterolemia: absence of Abcg8/sterolin-2 results in failure to secrete biliary cholesterol

BMC Medicine, 2004
Background Mutations in either of two genes comprising the STSL locus, ATP-binding cassette (ABC)-transporters ABCG5 (encoding sterolin-1) and ABCG8 (encoding sterolin-2), result in sitosterolemia, a rare autosomal recessive disorder of sterol ...
Oude-Elferink Ronald, Looije Norbert, Klein Richard, Chen Jianliang, Yu Hongwei, Batta Ashok K, Shefer Sarah, Altenburg Michael, Lee Mi-Hye, Vink Edwin, Kosters Astrid, Lu Kangmo, Klett Eric L, Groen Albert K, Maeda Nobuyo, Salen Gerald, Patel Shailendra B   +16 more
doaj   +1 more source

The mechanism of ABCG5/ABCG8 in biliary cholesterol secretion in mice1

Journal of Lipid Research, 2006
The main player in biliary cholesterol secretion is the heterodimeric transporter complex, ABCG5/ABCG8, the function of which is necessary for the majority of sterols secreted into bile.
Astrid Kosters, Cindy Kunne, Norbert Looije, Shailendra B. Patel, Ronald P.J. Oude Elferink, Albert K. Groen   +5 more
doaj   +1 more source

Localization of ABCG5 and ABCG8 proteins in human liver, gall bladder and intestine

BMC Gastroenterology, 2004
Background The molecular mechanisms that regulate the entry of dietary sterols into the body and their removal via hepatobiliary secretion are now beginning to be defined. These processes are specifically disrupted in the rare autosomal recessive disease,
Chavin Kenneth D, Adams David B, Lee Mi-Hye, Klett Eric L, Patel Shailendra B   +4 more
doaj   +1 more source

The orphan nuclear receptor LRH-1 activates the ABCG5/ABCG8 intergenic promoter

Journal of Lipid Research, 2004
The ATP binding cassette (ABC) half-transporters ABCG5 and ABCG8 facilitate biliary and intestinal removal of neutral sterols. Here, we identify a binding site for the orphan nuclear receptor liver receptor homolog-1 (LRH-1) at nt 134–142 of the ABCG5 ...
Lita A. Freeman, Arion Kennedy, Justina Wu, Samantha Bark, Alan T. Remaley, Silvia Santamarina-Fojo, H. Bryan Brewer, Jr.   +6 more
doaj   +1 more source