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A rational free energy-based approach to understanding and targeting disease-causing missense mutations
2013
JAMIA Journal of the American Medical Informatics Association
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The 3D structures were used to predict the effect of disease-causing missense mutations on the folding free energy, conformational dynamics, hydrogen bond network and, if appropriate, protein-protein binding ...
free energy. ...
Funding The work of ZZ and EA was supported in part by NIH, NLM, grant number 1R03LM009748. ...
doi:10.1136/amiajnl-2012-001505
pmid:23408511
pmcid:PMC3721167
fatcat:5mih3em4pvbtnjfash6wyugdzy
Application of Computational Biology and Artificial Intelligence Technologies in Cancer Precision Drug Discovery
2019
BioMed Research International
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The goal is to exploit modern computational biology and machine learning systems to predict the molecular behaviour and the likelihood of getting a useful drug, thus saving time and money on unnecessary ...
Artificial intelligence (AI) proves to have enormous potential in many areas of healthcare including research and chemical discoveries. ...
Acknowledgments e authors take this opportunity to thank the Nanyang Technological University for providing the facilities and for encouragement to carry out this work. ...
doi:10.1155/2019/8427042
pmid:31886259
pmcid:PMC6925679
fatcat:k2fm2n7pfnf63emhkap7arlg4m
RE(ACT)® International Congress on Research on Rare and Orphan Diseases
2011
Molecular Syndromology
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public that many researchers based all around the world are now dedicating their time and efforts to better understand a particular rare disease. ...
The congress goals are to promote research on rare and orphan diseases among the general public, industry and policy makers, and to bring together researchers and their knowledge to help support the understanding ...
The effects of the disease-causing mutation in lamin are unlike the effects of lamin deletion, and therefore show that this EDMD-linked mutation acts in a dominant fashion to provoke muscle-specific defects ...
doi:10.1159/000336858
fatcat:q67z2gzqzvclvfy7p5gquzvnoa
RE(ACT)®: INTERNATIONAL CONGRESS ON RESEARCH ON RARE AND ORPHAN DISEASES
2012
Molecular Syndromology
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public that many researchers based all around the world are now dedicating their time and efforts to better understand a particular rare disease. ...
The congress goals are to promote research on rare and orphan diseases among the general public, industry and policy makers, and to bring together researchers and their knowledge to help support the understanding ...
The effects of the disease-causing mutation in lamin are unlike the effects of lamin deletion, and therefore show that this EDMD-linked mutation acts in a dominant fashion to provoke muscle-specific defects ...
pmid:22670144
pmcid:PMC3362213
fatcat:7x4vqttaxrhvjig37e56vknyre
Disease Pathways and Novel Therapeutic Targets in Hypertrophic Cardiomyopathy
2011
Circulation Research
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Ashrafian reports holding a European method-of-use patent for perhexiline in systolic heart failure and having patents pending for its use in diastolic heart failure and hypertrophic cardiomyopathy and ...
Not only does this study support the hypothesis that energy deficiency causatively contributes to HCM, but it provides a rationale for the application of metabolic therapies in HCM. ...
organ physiology 17 are rational therapeutic targets. ...
doi:10.1161/circresaha.111.242974
pmid:21700950
fatcat:snbarxqsgzgidl6qlunqfg4qky
Molecular modelling and simulations in cancer research
2013
Biochimica et Biophysica Acta. CR. Reviews on Cancer
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of a protein bound to a drug molecule is known, and you want to 101 understand whether a certain mutation may lead to drug resistance because it would reduce the affinity 102 of the drug molecule. 103 ...
In 111 practice, the potential energy of the system is estimated based on a set of equations and parameters, 112 collectively known as a force field. ...
and A.10, 365 where we list several applications, commercial as well as free. ...
doi:10.1016/j.bbcan.2013.02.001
pmid:23416097
fatcat:6wyfplnxdzdpdhhbf25ln7itry
The impact of structural bioinformatics tools and resources on SARS-CoV-2 research and therapeutic strategies
2020
Briefings in Bioinformatics
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SARS-CoV-2 is the causative agent of COVID-19, the ongoing global pandemic. It has posed a worldwide challenge to human health as no effective treatment is currently available to combat the disease. ...
We also discuss the impact of these resources and structure-based studies, to understand various aspects of SARS-CoV-2 infection and therapeutic development. ...
to cause severe disease in humans. ...
doi:10.1093/bib/bbaa362
pmid:33348379
fatcat:24w5gfkifrc35ohdcpl5chmpka
Computational Approaches to Prioritize Cancer Driver Missense Mutations
2018
International Journal of Molecular Sciences
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Effects caused by missense mutations can be pinpointed by in silico modeling, which makes it more feasible to find a treatment and reverse the effect. ...
Missense mutations, which can render proteins non-functional and provide a selective growth advantage to cancer cells, are frequently detected in cancer. ...
MutaBind is a web-based application method for evaluation of the effects of sequence variants and disease mutations on protein-protein interactions [48] . ...
doi:10.3390/ijms19072113
pmid:30037003
pmcid:PMC6073793
fatcat:vjhbg455ubappidap7lqo7y3za
In silico investigation of functional nsSNPs – an approach to rational drug design
2012
Research and Reports in Medicinal Chemistry
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Additionally, the review details the recent advances in the field of in silico pharmacogenomics, which provide insight into disease phenotypes and individual susceptibility to disease. ...
It also explains current methods by which to predict the functional impact of nsSNPs based on physicochemical amino acid properties, sequence information, and structural attributes. ...
Acknowledgments This work has been supported by the Spanish Ministry of Science and Innovation (R&C2007-01920). ...
doi:10.2147/rrmc.s28211
fatcat:fmghecofqfg6dbw2wlz4wekh2m
Genetically-engineered hamster models: applications and perspective in dyslipidemia and atherosclerosis-related cardiovascular disease
2021
Medical Review
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However, based on the concept of precision medicine and high demand of translational research, the applications of mouse models for human ASCVD study would be limited due to the natural differences in ...
suggesting that gene-targeted hamster models will provide new insights into the precision medicine and translational research of ASCVD. ...
a platform to develop therapeutic approaches to low HDL and ASCVD caused by FLD. ...
doi:10.1515/mr-2021-0004
fatcat:j7mpjwzelbhorgukeobxtim7c4
Emerging trends at the interface of chemistry and biology: Applications to the design of human therapeutics
2010
Proceedings of the Indian Academy of sciences. Chemical sciences
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Advances in protein design methodology and screening are described, with a focus on their application to the design of antibody based therapeutics. ...
Strategies for multi-target therapeutics and network analysis with a focus on cancer and HIV are discussed. ...
R V thanks Bharat Adkar and Piyali Saha for providing figures and Bhagyashree K G for help with manuscript preparation. ...
doi:10.1007/s12039-010-0034-7
fatcat:cu5bghpverfa7lyoayg44rw32e
Abstracts of the 12th UK Neuromuscular Translational Research Conference, 4th and 5th April 20191
2019
Journal of Neuromuscular Diseases
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team to produce the highest professional level of neuromuscular clinical research in Newcastle and the North East. ...
OD17 Immune-array genotyping association analysis in a large cohort of sporadic inclusion body myositis and controls ...
The suggested grouping intended to be a rational approach to RD ERN planning and to ensure coverage of all RD. The work to establish EURO-NMD started in 2013 under Kate Bushby's lead. ...
doi:10.3233/jnd-190000
fatcat:s6ovvrwyevaznmdlwuajqimy2q
Abstracts for the 36th Human Genetics Society of Australasia Annual Scientific Meeting Canberra, Australia July 22–25, 2012
2012
Twin Research and Human Genetics
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disease models. ...
, a musclespecific COX15 knockout, and a Sco2 knockout/knockin (KO/KI) mouse. ...
AACG Oral 10 MUTATIONS IN EXONS 41 AND 42 OF FIBRILLIN 1 CAUSE SHORT STATURE OF THE ACROMELIC TYPE. ...
doi:10.1017/thg.2012.44
fatcat:6wam3e3zgvhabfxbseysnomuki
Structural Perspective on Revealing and Altering Molecular Functions of Genetic Variants Linked with Diseases
2019
International Journal of Molecular Sciences
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However, if a mutation causes significant perturbation by either folding or binding free energies, it is quite likely to be deleterious. ...
parameters, namely, folding and binding free energies potentially serve as effective biomarkers. ...
Several computational approaches have been developed to predict folding and binding free energy changes (∆∆G) as a mean to link them with pathogenicity of mutations. ...
doi:10.3390/ijms20030548
fatcat:f257huiwz5gdvgtur7pq4aydl4
Antibodies targeting enzyme inhibition as potential tools for research and drug development
2021
Biomolecular Concepts
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Antibodies have transformed biomedical research and are now being used for different experimental applications. ...
Generally, the interaction of enzymes with their specific antibodies can lead to a reduction in their enzymatic activity. ...
With no clinical data to support or refute the amyloid theory, new approaches to addressing potential targets are required. ...
doi:10.1515/bmc-2021-0021
pmid:35104929
fatcat:a2tiieulqvemvhpg7ccq725agy
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