Link between a novel human gammaD-crystallin allele and a unique cataract phenotype explained by protein crystallography
about
Cell death triggered by a novel mutation in the alphaA-crystallin gene underlies autosomal dominant cataract linked to chromosome 21qCrystal cataracts: human genetic cataract caused by protein crystallizationA nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22qMethylation and carbamylation of human gamma-crystallinsBiophysical Properties of γC-Crystallin in Human and Mouse Eye Lens: The Role of Molecular DipolesThe Structure of the Cataract-Causing P23T Mutant of Human γD-Crystallin Exhibits Distinctive Local Conformational and Dynamic Changes † , ‡Crystal structures of truncated alphaA and alphaB crystallins reveal structural mechanisms of polydispersity important for eye lens functionThe Human W42R D-Crystallin Mutant Structure Provides a Link between Congenital and Age-related CataractsCrystal structure of the cataract-causing P23T γD-crystallin mutantNuclear Magnetic Resonance Structure of a Major Lens Protein, Human γC-Crystallin: Role of the Dipole Moment in Protein SolubilityConformational change and destabilization of cataract gammaC-crystallin T5P mutantAltered aggregation properties of mutant gamma-crystallins cause inherited cataractA temperature-sensitive mutation of Crygs in the murine Opj cataract.A novel human CRYGD mutation in a juvenile autosomal dominant cataractThe congenital cataract-linked G61C mutation destabilizes γD-crystallin and promotes non-native aggregationCataract-causing defect of a mutant γ-crystallin proceeds through an aggregation pathway which bypasses recognition by the α-crystallin chaperone.Molecular genetics of age-related cataract.Cataract-associated mutant E107A of human gammaD-crystallin shows increased attraction to alpha-crystallin and enhanced light scattering.A novel CRYGD mutation (p.Trp43Arg) causing autosomal dominant congenital cataract in a Chinese family.Ethylnitrosourea-induced mutation in mice leads to the expression of a novel protein in the eye and to dominant cataracts.Ethylnitrosourea-induced base pair substitution affects splicing of the mouse gammaE-crystallin encoding gene leading to the expression of a hybrid protein and to a cataract.Mutation screening and genotype phenotype correlation of α-crystallin, γ-crystallin and GJA8 gene in congenital cataract.A knock-in mouse model for the R120G mutation of αB-crystallin recapitulates human hereditary myopathy and cataracts.A novel mutation in γD-crystallin associated with autosomal dominant congenital cataract in a Chinese familyStructural integrity of the Greek key motif in βγ-crystallins is vital for central eye lens transparencyThe molecular refractive function of lens γ-Crystallins.Mutation analysis of 12 genes in Chinese families with congenital cataracts.Crystalline cataract caused by a heterozygous missense mutation in γD-crystallin (CRYGD).Structural and biochemical characterization of the childhood cataract-associated R76S mutant of human γD-crystallin.Conversion and compensatory evolution of the gamma-crystallin genes and identification of a cataractogenic mutation that reverses the sequence of the human CRYGD gene to an ancestral stateGenetic disorders involving molecular-chaperone genes: a perspective.Altered phase diagram due to a single point mutation in human gammaD-crystallin.A novel alphaB-crystallin mutation associated with autosomal dominant congenital lamellar cataract.Enhancement of ubiquitin conjugation activity reduces intracellular aggregation of V76D mutant γD-crystallin.Novel mutations in CRYGD are associated with congenital cataracts in Chinese families.Formation of amyloid fibrils in vitro by human gammaD-crystallin and its isolated domains.Mutation G61C in the CRYGD gene causing autosomal dominant congenital coralliform cataracts.The human crystallin gene familiesEvolution of crystallins for a role in the vertebrate eye lens.Protein misfolding and aggregation in cataract disease and prospects for prevention.
P2860
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P2860
Link between a novel human gammaD-crystallin allele and a unique cataract phenotype explained by protein crystallography
description
2000 nî lūn-bûn
@nan
2000 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
Link between a novel human gam ...... ned by protein crystallography
@ast
Link between a novel human gam ...... ned by protein crystallography
@en
Link between a novel human gam ...... ned by protein crystallography
@nl
type
label
Link between a novel human gam ...... ned by protein crystallography
@ast
Link between a novel human gam ...... ned by protein crystallography
@en
Link between a novel human gam ...... ned by protein crystallography
@nl
prefLabel
Link between a novel human gam ...... ned by protein crystallography
@ast
Link between a novel human gam ...... ned by protein crystallography
@en
Link between a novel human gam ...... ned by protein crystallography
@nl
P2093
P356
P1476
Link between a novel human gam ...... ned by protein crystallography
@en
P2093
J Sedlácek
K Bezouska
P Rezácová
P304
P356
10.1093/HMG/9.12.1779
P407
P577
2000-07-22T00:00:00Z