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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 ...
Effect of specific amino acid substitutions in the putative fusion peptide of structural glycoprotein E2 on Classical Swine Fever Virus replication
(Elsevier, 2014-05)
E2, along with Erns and E1, is an envelope glycoprotein of Classical Swine Fever Virus (CSFV). E2 is involved in several virus functions: cell attachment, host range susceptibility and virulence in natural hosts. Here we ...
The importance of an integrated analysis of clinical, molecular, and functional data for the genetic diagnosis of familial hypercholesterolemia
(Nature, 2015-12)
Purpose
Familial hypercholesterolemia (FH) is one of the most common monogenic disorders, and the high concentrations of low-density lipoprotein (LDL) cholesterol presented since birth confers on these patients an increased ...
The T1D-associated lncRNA Lnc13 modulates human pancreatic β cell inflammation by allele-specific stabilization of STAT1 mRNA
(National Academy of Sciences, 2020-03-05)
The vast majority of type 1 diabetes (T1D) genetic association signals lie in non-coding regions of the human genome. Many have been predicted to affect the expression and secondary structure of long non-coding RNAs ...