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DEXI, a candidate gene for type 1 diabetes, modulates rat and human pancreatic beta cell inflammation via regulation of the type I IFN/STAT signalling pathway
(Springer, 2018-11-26)
Aims/hypothesis: The initial stages of type 1 diabetes are characterized by an aberrant islet inflammation that is in part regulated by the interaction between type 1 diabetes susceptibility genes and environmental factors. ...
DNA methylation epigenotypes in breast cancer molecular subtypes
(BioMed Central, 2010-09-29)
Introduction: Identification of gene expression-based breast cancer subtypes is considered a critical means of prognostication. Genetic mutations along with epigenetic alterations contribute to gene-expression changes ...
Activity-associated effect of LDL receptor missense variants located in the cysteine-rich repeats
(Elsevier, 2015-02)
Background: The LDL receptor (LDLR) is a Class I transmembrane protein critical for the clearance of cholesterol-containing lipoprotein particles. The N-terminal domain of the LDLR harbours the ligand-binding domain ...
Classical Swine Fever Virus p7 Protein Is a Viroporin Involved in Virulence in Swine
(American Society of Microbiology, 2012-06-15)
The nonstructural protein p7 of classical swine fever virus (CSFV) is a small hydrophobic polypeptide with an apparent molecular mass of 6 to 7 kDa. The protein contains two hydrophobic stretches of amino acids interrupted ...
A cellular reporter to evaluate CRM1 nuclear export activity: functional analysis of the cancer-related mutant E571K
(Springer Nature Switzerland AG, 2016-12)
The exportin CRM1 binds nuclear export signals (NESs), and mediates active transport of NES-bearing proteins from the nucleus to the cytoplasm. Structural and biochemical analyses have uncovered the molecular mechanisms ...
Characterization of the first PCSK9 gain of function homozygote
(Elsevier / American College of Cardiology, 2015-11)
Gain of function (GOF) mutations in proprotein convertase subtilisin kexin type 9 (PCSK9) are a rare cause of familial hypercholesterolemia (FH). We identified a child with a clinical diagnosis of FH with 2 novel putative ...
Inhibition of the Human Hsc70 System by Small Ligands as a Potential Anticancer Approach
(MDPI, 2021-06-11)
Heat shock protein (Hsp) synthesis is upregulated in a wide range of cancers to provide the appropriate environment for tumor progression. The Hsp110 and Hsp70 families have been associated to cancer cell survival and ...
Leukemia-Associated Mutations in Nucleophosmin Alter Recognition by CRM1: Molecular Basis of Aberrant Transport
(Public Library of Science, 2015-06-19)
Nucleophosmin (NPM) is a nucleocytoplasmic shuttling protein, normally enriched in nucleoli, that performs several activities related to cell growth. NPM mutations are characteristic of a subtype of acute myeloid leukemia ...
Conformational Sampling and Nucleotide-Dependent Transitions of the GroEL Subunit Probed by Unbiased Molecular Dynamics Simulations
(Public Library of Science, 2011-03-10)
GroEL is an ATP dependent molecular chaperone that promotes the folding of a large number of substrate proteins in E. coli. Large-scale conformational transitions occurring during the reaction cycle have been characterized ...
Cloning, purification and characterization of two components of phenol hydroxylase from Rhodococcus erythropolis UPV-1
(Springer, 2009-09-29)
Phenol hydroxylase that catalyzes the conversion of phenol to catechol in Rhodococcus erythropolis UPV-1 was identified as a two-component flavin-dependent monooxygenase. The two proteins are encoded by the genes pheA1 and ...