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An Epilepsy-Causing Mutation Leads to Co-Translational Misfolding of the Kv7.2 Channel
(Springer, 2021-05-21)
BACKGROUND: The amino acid sequence of proteins generally carries all the necessary information for acquisition of native conformations, but the vectorial nature of translation can additionally determine the folding outcome. ...
The Multifunctional Role of SPANX-A/D Protein Subfamily in the Promotion of Pro-Tumoural Processes in Human Melanoma
(Nature, 2021-02-11)
Human sperm protein associated with the nucleus on the X chromosome (SPANX) genes encode a protein family (SPANX-A, -B, -C and -D), whose expression is limited to the testis and spermatozoa in normal tissues and various ...
Neddylation inhibition ameliorates steatosis in NAFLD by boosting hepatic fatty acid oxidation via DEPTOR-mTOR axis
(Elsevier, 2021-06-18)
[EN] Objective: Neddylation is a druggable and reversible ubiquitin-like post-translational modification upregulated in many diseases, including liver
fibrosis, hepatocellular carcinoma, and more recently, non-alcoholic ...
SR-B1, a Key Receptor Involved in the Progression of Cardiovascular Disease: A Perspective from Mice and Human Genetic Studies
(MDPI, 2021-05-27)
High plasma level of low-density lipoprotein (LDL) is the main driver of the initiation and progression of cardiovascular disease (CVD). Nevertheless, high-density lipoprotein (HDL) is considered an anti-atherogenic ...
A Systematic Approach to Assess the Activity and Classification of PCSK9 Variants
(MDPI, 2021-12-18)
Background: Gain of function (GOF) mutations of PCSK9 cause autosomal dominant familial hypercholesterolemia as they reduce the abundance of LDL receptor (LDLR) more efficiently than wild-type PCSK9. In contrast, PCSK9 ...
Identification of proximal SUMO-dependent interactors using SUMO-ID
(Nature Research, 2021-11-18)
[EN]The fast dynamics and reversibility of posttranslational modifications by the ubiquitin family pose significant challenges for research. Here we present SUMO-ID, a technology that merges proximity biotinylation by ...
Lipoprotein Metabolism in Familial Hypercholesterolemia
(Springer, 2021-03-03)
Familial hypercholesterolemia (FH) is one of the most common genetic disorders in humans. It is an extremely atherogenic metabolic disorder characterized by lifelong elevations of circulating LDL-C levels often leading to ...
(r)HDL in Theranostics: How Do We Apply HDL's Biology for Precision Medicine in Atherosclerosis Management?
(Royal Society Of Chemistry, 2021-03-19)
High-density lipoproteins (HDL) are key players in cholesterol metabolism homeostasis since they are responsible for transporting excess cholesterol from peripheral tissues to the liver. Imbalance in this process, due to ...
(r)HDL in theranostics: how do we apply HDL's biology for precision medicine in atherosclerosis management?
(The Royal Society of Chemistry, 2021-05-07)
High-density lipoproteins (HDL) are key players in cholesterol metabolism homeostasis since they are responsible for transporting excess cholesterol from peripheral tissues to the liver. Imbalance in this process, due to ...
Cholesterol stimulates the lytic activity of Adenylate Cyclase Toxin on lipid membranes by promoting toxin oligomerization and formation of pores with a greater effective size
(Wiley, 2021-12)
Several toxins acting on animal cells present different, but specific, interactions with cholesterol. Bordetella pertussis infects the human respiratory tract and causes whooping cough, a highly contagious and resurgent ...