Computational approach to unravel the impact of missense mutations of proteins (D2HGDH and IDH2) causing D-2-hydroxyglutaric aciduria 2

Glandular hair constituents of Mallotus philippinensis Muell. fruit act as tyrosinase inhibitors: Insights from enzyme kinetics and simulation study

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Structural analysis of missense mutations in galactokinase 1 (GALK1) leading to galactosemia type-2

(2018) Sneha P et al.   JOURNAL OF CELLULAR BIOCHEMISTRY

Substitution impact of highly conserved arginine residue at position 75 in GJB1 gene in association with X-linked Charcot–Marie-tooth disease: A computational study

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A Molecular Docking and Dynamics Approach to Screen Potent Inhibitors Against Fosfomycin Resistant Enzyme in Clinical Klebsiella pneumoniae

(2017) D. Thirumal Kumar et al.   JOURNAL OF CELLULAR BIOCHEMISTRY

Structural Analysis of G1691S Variant in the Human Filamin B Gene Responsible for Larsen Syndrome: A Comparative Computational Approach

(2017) Sneha P et al.   JOURNAL OF CELLULAR BIOCHEMISTRY

Genotype-phenotype correlation in 18 Egyptian patients with glutaric acidemia type I

(2017) Ahmed Mosaeilhy et al.   METABOLIC BRAIN DISEASE

Comparative computational assessment of the pathogenicity of mutations in the Aspartoacylase enzyme

(2017) C. George Priya Doss et al.   METABOLIC BRAIN DISEASE

A profound computational study to prioritize the disease-causing mutations in PRPS1 gene

(2017) Ashish Kumar Agrahari et al.   METABOLIC BRAIN DISEASE

Allosteric Mutant IDH1 Inhibitors Reveal Mechanisms for IDH1 Mutant and Isoform Selectivity

(2017) Xiaoling Xie et al.   STRUCTURE

Structural Determination of the Broadly Reactive Anti- IGHV1-69 Anti-idiotypic Antibody G6 and Its Idiotope

(2017) Yuval Avnir et al.   Cell Reports

Analysis of interactions of clinical mutants of catalase-peroxidase (KatG) responsible for isoniazid resistance in Mycobacterium tuberculosis with derivatives of isoniazid

(2017) Ameeruddin Nusrath Unissa et al.   Journal of Global Antimicrobial Resistance

Role of E542 and E545 missense mutations of PIK3CA in breast cancer: a comparative computational approach

(2016) D. Thirumal Kumar et al.   JOURNAL OF BIOMOLECULAR STRUCTURE & DYNAMICS

Two patients with Canavan disease and structural modeling of a novel mutation

(2016) Osama K Zaki et al.   METABOLIC BRAIN DISEASE

DNA Repair Gene (XRCC1) Polymorphism (Arg399Gln) Associated with Schizophrenia in South Indian Population: A Genotypic and Molecular Dynamics Study

(2016) S. P. Sujitha et al.   PLoS One

Genetic Epidemiology of Glucose-6-Phosphate Dehydrogenase Deficiency in the Arab World

(2016) C. George Priya Doss et al.   Scientific Reports

Canavan disease: An Arab scenario

(2015) Hatem Zayed   GENE

Propionic acidemia in the Arab World

(2015) Hatem Zayed   GENE

D-2-Hydroxyglutarate does not mimic all the IDH mutation effects, in particular the reduced etoposide-triggered apoptosis mediated by an alteration in mitochondrial NADH

(2015) K Oizel et al.   Cell Death & Disease

D-2-hydroxyglutarate produced by mutant IDH2 causes cardiomyopathy and neurodegeneration in mice

(2014) E. A. Akbay et al.   GENES & DEVELOPMENT

SWISS-MODEL: modelling protein tertiary and quaternary structure using evolutionary information

(2014) Marco Biasini et al.   NUCLEIC ACIDS RESEARCH

Contribution of hydrogen bonds to protein stability

(2014) C. Nick Pace et al.   PROTEIN SCIENCE

What do we know about IDH1/2 mutations so far, and how do we use it?

(2013) Craig Horbinski   ACTA NEUROPATHOLOGICA

GROMACS 4.5: a high-throughput and highly parallel open source molecular simulation toolkit

(2013) Sander Pronk et al.   BIOINFORMATICS

Bioinformatics analysis of the epitope regions for norovirus capsid protein

(2013) Liping Chen et al.   BMC BIOINFORMATICS

Collective judgment predicts disease-associated single nucleotide variants

(2013) Emidio Capriotti et al.   BMC GENOMICS

Novel cases of D-2-hydroxyglutaric aciduria withIDH1orIDH2mosaic mutations identified by amplicon deep sequencing

(2013) Benjamin Nota et al.   JOURNAL OF MEDICAL GENETICS

Enzymatic assay for quantitative analysis of (d)-2-hydroxyglutarate

(2012) Jörg Balss et al.   ACTA NEUROPATHOLOGICA

A lymphoblast model for IDH2 gain-of-function activity in d-2-hydroxyglutaric aciduria type II: Novel avenues for biochemical and therapeutic studies

(2011) M. Kranendijk et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Definition and testing of the GROMOS force-field versions 54A7 and 54B7

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Correction: Lactation Defect with Impaired Secretory Activation in AEBP1-Null Mice

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The Common Feature of Leukemia-Associated IDH1 and IDH2 Mutations Is a Neomorphic Enzyme Activity Converting α-Ketoglutarate to 2-Hydroxyglutarate

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Stability tests on known and misfolded structures with discrete and all atom molecular dynamics simulations

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Metabolism, Gliomas, andIDH1

(2010) Jan Smeitink   NEW ENGLAND JOURNAL OF MEDICINE

Structural basis for unfolding pathway-dependent stability of proteins: Vectorial unfolding versus global unfolding

(2010) Keisuke Yagawa et al.   PROTEIN SCIENCE

IDH2 Mutations in Patients with D-2-Hydroxyglutaric Aciduria

(2010) M. Kranendijk et al.   SCIENCE

Cancer-associated IDH1 mutations produce 2-hydroxyglutarate

(2009) Lenny Dang et al.   NATURE

SNAP: a web-based tool for identification and annotation of proxy SNPs using HapMap

(2008) A. D. Johnson et al.   BIOINFORMATICS