Interpreting the Mechanism of APOE (p.Leu167del) Mutation in the Incidence of Familial Hypercholesterolemia; An In-silico Approach

scientific article published on 14 September 2017

Interpreting the Mechanism of APOE (p.Leu167del) Mutation in the Incidence of Familial Hypercholesterolemia; An In-silico Approach is …
instance of (P31):
review articleQ7318358
scholarly articleQ13442814

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P356DOI10.2174/1874192401711010084
P932PMC publication ID5688386
P698PubMed publication ID29204218

P2093author name stringMohamed Nabil Alama
Zuhier Ahmed Awan
Fatima Amanullah H Nazar
Omran Mohammed Rashidi
P2860cites workNOMAD-Ref: visualization, deformation and refinement of macromolecular structures based on all-atom normal mode analysisQ42553727
Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutationsQ42966047
Apolipoprotein E: structure determines function, from atherosclerosis to Alzheimer's disease to AIDS.Q43138847
Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control studyQ43418707
Low-density lipoprotein receptor gene mutation analysis and structure-function correlation in an Omani arab family with familial hypercholesterolemiaQ43714958
Novel LDLR variants in patients with familial hypercholesterolemia: in silico analysis as a tool to predict pathogenic variants in children and their familiesQ44172915
The p.Leu167del Mutation in APOE Gene Causes Autosomal Dominant Hypercholesterolemia by Down-regulation of LDL Receptor Expression in HepatocytesQ47846212
Structural and functional characterization of pathogenic non- synonymous genetic mutations of human insulin-degrading enzyme by in silico methods.Q51161180
A Computational Protein Phenotype Prediction Approach to Analyze the Deleterious Mutations of Human MED12 GeneQ87163687
The protein structure prediction problem could be solved using the current PDB libraryQ22248093
In vivo evidence for reduced binding of low density lipoproteins to receptors as a cause of primary moderate hypercholesterolemiaQ24563909
Low-density lipoprotein receptor (LDLR) family orchestrates cholesterol homeostasisQ24608930
SWISS-MODEL: An automated protein homology-modeling serverQ24672647
Monogenic hypercholesterolemia: new insights in pathogenesis and treatmentQ24672834
The structural alignment between two proteins: is there a unique answer?Q24673989
A global reference for human genetic variationQ25909434
Apolipoprotein E and apolipoprotein E receptors: normal biology and roles in Alzheimer diseaseQ26858870
The leucine zipper: a hypothetical structure common to a new class of DNA binding proteinsQ27860587
Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor proteinQ28186061
Mutations in PCSK9 cause autosomal dominant hypercholesterolemiaQ28202519
Mini review roles of the bZIP gene family in riceQ28239125
Apolipoprotein E: cholesterol transport protein with expanding role in cell biologyQ28294791
APOE p.Leu167del mutation in familial hypercholesterolemia.Q30355909
Computational diagnosis of protein conformational diseases: short molecular dynamics simulations reveal a fast unfolding of r-LDL mutants that cause familial hypercholesterolemia.Q30357459
Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid lociQ30419436
Apolipoprotein E-low density lipoprotein receptor interaction affects spatial memory retention and brain ApoE levels in an isoform-dependent manner.Q30572801
Performance comparison of generalized born and Poisson methods in the calculation of electrostatic solvation energies for protein structuresQ34280282
Computational methods for biomolecular docking.Q34396832
Apolipoprotein E: From lipid transport to neurobiologyQ34497951
Structural and functional characterization of human apolipoprotein E 72-166 peptides in both aqueous and lipid environmentsQ34499744
Structure and physiologic function of the low-density lipoprotein receptorQ34650688
Predicting the Impact of Missense Mutations on Protein-Protein Binding Affinity.Q35164244
Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in FranceQ36617485
Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutationQ36802138
Assessing the Pathogenicity of Insertion and Deletion Variants with the Variant Effect Scoring Tool (VEST-Indel).Q37325857
A normalized root-mean-square distance for comparing protein three-dimensional structuresQ38272565
Familial hypercholesterolemia mutations in the Middle Eastern and North African region: a need for a national registryQ38441332
Exploring the complete mutational space of the LDL receptor LA5 domain using molecular dynamics: linking SNPs with disease phenotypes in familial hypercholesterolemiaQ38601708
Concerning the structure of apoEQ41836439
HexServer: an FFT-based protein docking server powered by graphics processors.Q42011577
P275copyright licenseCreative Commons Attribution 4.0 InternationalQ20007257
P6216copyright statuscopyrightedQ50423863
P921main subjectin silicoQ192572
hypercholesterolemiaQ762713
familial hypercholesterolemiaQ2711291
P304page(s)84-93
P577publication date2017-09-14
P1433published inOpen Cardiovascular Medicine JournalQ15817299
P1476titleInterpreting the Mechanism of APOE (p.Leu167del) Mutation in the Incidence of Familial Hypercholesterolemia; An In-silico Approach
P478volume11

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cites work (P2860)
Q64978138Percutaneous Coronary Intervention in Familial Hypercholesterolemia Is Understudied.
Q88738986The Present and the Future of Genetic Testing in Familial Hypercholesterolemia: Opportunities and Caveats

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