Global computational mutagenesis of domain structures associated with inherited eye disease

article by Francisca Wood Ortiz & Yuri V Sergeev published 6 March 2019 in Scientific Reports

Global computational mutagenesis of domain structures associated with inherited eye disease is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1038/S41598-019-39905-9
P932PMC publication ID6403380
P698PubMed publication ID30842450

P2093author name stringYuri V Sergeev
Francisca Wood Ortiz
P2860cites workHybrid Applications of Solution Scattering to Aid Structural BiologyQ47316527
The folding and evolution of multidomain proteinsQ47599342
Correction: Global computational mutagenesis provides a critical stability framework in protein structures.Q48511812
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Solution structure of a pair of calcium-binding epidermal growth factor-like domains: implications for the Marfan syndrome and other genetic disordersQ27732794
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Protein folding and misfoldingQ28235199
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How does a protein fold?Q28299554
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Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypesQ30352027
Protein Destabilization as a Common Factor in Diverse Inherited Disorders.Q30381560
Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis.Q30384232
In silico Mapping of Protein Unfolding Mutations for Inherited DiseaseQ30395847
Dataset of eye disease-related proteins analyzed using the unfolding mutation screenQ30396074
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Novel mutation in FBN1 causes ectopia lentis and varicose great saphenous vein in one Chinese autosomal dominant familyQ33753830
Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degenerationQ34307274
Principles of protein folding, misfolding and aggregationQ35703268
Point mutations in membrane proteins reshape energy landscape and populate different unfolding pathwaysQ37343655
Studying the folding of multidomain proteinsQ37478995
Co-translational protein folding: progress and methodsQ38784499
The ribosome in action: Tuning of translational efficiency and protein foldingQ38838979
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On human disease-causing amino acid variants: statistical study of sequence and structural patternsQ39951577
Global computational mutagenesis provides a critical stability framework in protein structuresQ46245936
P433issue1
P407language of work or nameEnglishQ1860
P921main subjecteye diseaseQ3041498
P304page(s)3676
P577publication date2019-03-06
P1433published inScientific ReportsQ2261792
P1476titleGlobal computational mutagenesis of domain structures associated with inherited eye disease
P478volume9

Reverse relations

cites work (P2860)
Q89960992In silico analysis of a novel causative mutation in Cadherin23 gene identified in an Omani family with hearing loss
Q92372148Structural Mapping of Missense Mutations in the Pex1/Pex6 Complex

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