نتایج جستجو برای: abetalipoproteinemia

تعداد نتایج: 433  

Journal: :Journal of lipid research 2012
Mathilde Di Filippo Hervé Créhalet Marie Elisabeth Samson-Bouma Véronique Bonnet Lawrence P Aggerbeck Jean-Pierre Rabès Frederic Gottrand Gérald Luc Dominique Bozon Agnès Sassolas

Abetalipoproteinemia (ABL) is an inherited disease characterized by the defective assembly and secretion of apolipoprotein B-containing lipoproteins caused by mutations in the microsomal triglyceride transfer protein large subunit (MTP) gene (MTTP). We report here a female patient with an unusual clinical and biochemical ABL phenotype. She presented with severe liver injury, low levels of LDL-c...

Journal: :The Journal of clinical investigation 1967
J T Dodge G Cohen H J Kayden G B Phillips

The effect of peroxidative stress on tissue was studied by exposure of red blood cells (RBC) from patients with abetalipoproteinemia to minute amounts of H(2)O(2)in vitro. Red blood cells from untreated patients showed a marked sensitivity to H(2)O(2), as evidenced by hemolysis and lipid peroxidation (peroxidative hemolysis). The appearance of lipid peroxidation products in sensitive cells afte...

Journal: :Journal of lipid research 2000
K Ohashi S Ishibashi J Osuga R Tozawa K Harada N Yahagi F Shionoiri Y Iizuka Y Tamura R Nagai D R Illingworth T Gotoda N Yamada

Abetalipoproteinemia (ABL) is an inherited disease characterized by the virtual absence of apolipoprotein B (apoB)-containing lipoproteins from plasma. Only limited numbers of families have been screened for mutations in the microsomal triglyceride transfer protein (MTP) gene. To clarify the genetic basis of clinical diversity of ABL, mutations of the MTP gene have been screened in 4 unrelated ...

Journal: :Physiological reviews 2012
Nada A Abumrad Nicholas O Davidson

Intestinal lipid transport plays a central role in fat homeostasis. Here we review the pathways regulating intestinal absorption and delivery of dietary and biliary lipid substrates, principally long-chain fatty acid, cholesterol, and other sterols. We discuss the regulation and functions of CD36 in fatty acid absorption, NPC1L1 in cholesterol absorption, as well as other lipid transporters inc...

2012
M Mahmood Hussain Paul Rava Meghan Walsh Muhammad Rana Jahangir Iqbal

Microsomal triglyceride transfer protein (MTP) was first identified as a major cellular protein capable of transferring neutral lipids between membrane vesicles. Its role as an essential chaperone for the biosynthesis of apolipoprotein B (apoB)-containing triglyceride-rich lipoproteins was established after the realization that abetalipoproteinemia patients carry mutations in the MTTP gene resu...

2013
JERRY R. FAUST

A B S TRA CT The transfer of normal human fibroblasts from medium containing whole serum to medium devoid of lipoproteins produced a 90% decrease in the cellular content of cholesteryl esters and a 30% decrease in the free cholesterol content. When these lipoproteindeprived cells were subsequently incubated with human low density lipoprotein (LDL), there was a 7-fold increase in the cellular co...

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