| Cataract-causing Y204X mutation of crystallin protein CRYbetaB1 promotes its C-terminal degradation and higher-order oligomerization. | Cataract-causing Y204X mutation of crystallin protein CRYβB1 promotes its C-terminal degradation and higher-order oligomerization.
Jing X, Zhu M, Lu X, Wei P, Shi L, Zhang BY, Xu Y, Tang YP, Xiang DM, Gong P., Free PMC Article | 09/1/2023 |
| Congenital cataract-causing mutation betaB1-L116P is prone to amyloid fibrils aggregation and protease degradation with low structural stability. | Congenital cataract-causing mutation βB1-L116P is prone to amyloid fibrils aggregation and protease degradation with low structural stability.
Liu J, Xu W, Wang K, Chen F, Ren L, Xu J, Yao K, Chen X. | 05/21/2022 |
| A novel missense mutation of CRYBB1 causes congenital cataract in a Chinese family. | A novel missense mutation of CRYBB1 causes congenital cataract in a Chinese family.
Ji Y, Zhao X, Zhang J, Zhang D, Tian C, Zhang L, Zhao Y, Zhao J. | 09/25/2021 |
| A Novel Mutation p.S93R in CRYBB1 Associated with Dominant Congenital Cataract and Microphthalmia. | A Novel Mutation p.S93R in CRYBB1 Associated with Dominant Congenital Cataract and Microphthalmia.
Jin A, Zhang Y, Xiao D, Xiang M, Jin K, Zeng M. | 05/15/2021 |
| We examined a cohort of Chinese patients with congenital cataracts and studied the phenotypes and genotypes. Extralenticular abnormalities, such as microcornea and ocular coloboma, can also be found in patients with congenital cataracts. The phenotype of congenital cataracts associated with macular and optic disc coloboma was reported for the first time in this study. | Mutations in crystallin genes result in congenital cataract associated with other ocular abnormalities.
Sun Z, Zhou Q, Li H, Yang L, Wu S, Sui R., Free PMC Article | 05/26/2018 |
| Our findings highlight the importance of the C-terminus in betaB1-crystallin in maintaining the crystalline function and stability, and provide a novel insight into the molecular mechanism underlying the pathogenesis of human autosomal dominant congenital cataract. | A novel truncation mutation in CRYBB1 associated with autosomal dominant congenital cataract with nystagmus.
Rao Y, Dong S, Li Z, Yang G, Peng C, Yan M, Zheng F., Free PMC Article | 04/14/2018 |
| CRYBB1 partial duplication ad complete duplication of CRYBA4 identified in a family with autosomal dominant congenital cataract. | Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract.
Siggs OM, Javadiyan S, Sharma S, Souzeau E, Lower KM, Taranath DA, Black J, Pater J, Willoughby JG, Burdon KP, Craig JE., Free PMC Article | 09/16/2017 |
| Molecular dynamic simulation studies indicated that the mutation decreased the subunit binding energy and modified the distribution of surface electrostatic potentials. More importantly, the mutation separated two interacting loops in the C-terminal domain, which shielded the hydrophobic core from solvent in native betaB1-crystallin. | Cataract-causing mutation S228P promotes βB1-crystallin aggregation and degradation by separating two interacting loops in C-terminal domain.
Qi LB, Hu LD, Liu H, Li HY, Leng XY, Yan YB., Free PMC Article | 06/10/2017 |
| Congenital microcornea-cataract syndrome-causing mutation X253R increases betaB1-crystallin hydrophobicity to promote aggregate formation | Congenital microcornea-cataract syndrome-causing mutation X253R increases βB1-crystallin hydrophobicity to promote aggregate formation.
Leng XY, Li HY, Wang J, Qi LB, Xi YB, Yan YB. | 05/20/2017 |
| Despite the disruption of betaB1-crystallin assembly, the thermal stability of betaB1-crystallin was increased by the mutation accompanied by the reduction of thermal aggregation at high temperatures | Increasing βB1-crystallin sensitivity to proteolysis caused by the congenital cataract-microcornea syndrome mutation S129R.
Wang S, Zhao WJ, Liu H, Gong H, Yan YB. | 03/16/2013 |
| Sequencing of this gene revealed a homozygous c.171del mutation (p.N58Tfs*107) with a shared haplotype in all 16 children. | Clinical and molecular analysis of children with central pulverulent cataract from the Arabian Peninsula.
Khan AO, Aldahmesh MA, Mohamed JY, Alkuraya FS. | 06/9/2012 |
| study identified a novel heterozygous p.Ser129Arg mutation in CRYBB1 in a congenital cataract-microcornea syndrome family of Chinese origin | A novel mutation in CRYBB1 associated with congenital cataract-microcornea syndrome: the p.Ser129Arg mutation destabilizes the βB1/βA3-crystallin heteromer but not the βB1-crystallin homomer.
Wang KJ, Wang S, Cao NQ, Yan YB, Zhu SQ., Free PMC Article | 03/31/2012 |
| The formation of beta-crystallin heteromers not only stabilizes the unstable acidic beta-crystallin but also protects them against aggregation during refolding from the stress-denatured states. | The benefits of being β-crystallin heteromers: βB1-crystallin protects βA3-crystallin against aggregation during co-refolding.
Wang S, Leng XY, Yan YB. | 01/28/2012 |
| The presence of significant amounts of small peptides derived from gammaS- and betaB1-crystallins in the water-insoluble fraction of the lens indicates that these interact tightly with cytoskeletal or membrane components. | Truncation, cross-linking and interaction of crystallins and intermediate filament proteins in the aging human lens.
Su SP, McArthur JD, Truscott RJ, Aquilina JA. | 07/23/2011 |
| Analyses of 20 Chinese families with hereditary nuclear congenital cataract revealed 3 novel mutations. Two of these mutations (V146M and I21N) affected betaB2-crystallin (CRYBB2). One mutation (R233H) was detected in betaB1-crystallin (CRYBB1). | Novel beta-crystallin gene mutations in Chinese families with nuclear cataracts.
Wang KJ, Wang BB, Zhang F, Zhao Y, Ma X, Zhu SQ. | 05/7/2011 |
| Variant alleles of the CRYBB1 and CRYBB2 genes were found, none are considered pathogenic. | Mutation screen of beta-crystallin genes in 274 patients with age-related macular degeneration.
Sturgill GM, Bala E, Yaniglos SS, Peachey NS, Hagstrom SA. | 10/23/2010 |
| Data show a significant demixing of gammaD and betaB1 i.e., large difference of composition in the two coexisting phases. | Phase behavior of mixtures of human lens proteins Gamma D and Beta B1.
Wang Y, Lomakin A, McManus JJ, Ogun O, Benedek GB., Free PMC Article | 10/4/2010 |
| Studies show that The major proteins in the lens--alpha, beta, and gamma-crystallins--are constantly subjected to age-related changes. | Lens aging: effects of crystallins.
Sharma KK, Santhoshkumar P., Free PMC Article | 01/21/2010 |
| Results suggest that the N-terminal arm of betaB1-crystallin interacts with betaA3-crystallin during heterooligomerization, and the solubility of betaB1-crystallin and the heterooligomer are dependent on the intact C-terminal domain of betaB1-crystallin. | Truncated human betaB1-crystallin shows altered structural properties and interaction with human betaA3-crystallin.
Srivastava K, Gupta R, Chaves JM, Srivastava OP., Free PMC Article | 01/21/2010 |
| study identified an initiation codon mutation in CRYBB1 in a family with autosomal recessive form of congenital cataract (nuclear pulverulent cataract) | Initiation codon mutation in betaB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract.
Meyer E, Rahman F, Owens J, Pasha S, Morgan NV, Trembath RC, Stone EM, Moore AT, Maher ER., Free PMC Article | 01/21/2010 |
| These data suggest a mechanism whereby a transient disulfide bond occurs between alphaA- and betaB1-crystallin followed by a disulfide exchange with cysteine 49 of a neighboring alphaA-crystallin subunit. | Disulfide cross-links in the interaction of a cataract-linked alphaA-crystallin mutant with betaB1-crystallin.
Kumar MS, Koteiche HA, Claxton DP, Mchaourab HS. | 01/21/2010 |
| deamidation decreased formation of hetero-oligomers between beta-crystallin subunits; excess accumulation of deamidated beta-crystallins in vivo may disrupt normal protein-protein interactions and diminish the stabilizing effects between them | Deamidation alters interactions of beta-crystallins in hetero-oligomers.
Takata T, Woodbury LG, Lampi KJ., Free PMC Article | 01/21/2010 |
| This study has identified a novel nonsense mutation in CRYBB1 (p.Q223X) associated with autosomal dominant congenital nuclear cataract. | A novel nonsense mutation in CRYBB1 associated with autosomal dominant congenital cataract.
Yang J, Zhu Y, Gu F, He X, Cao Z, Li X, Tong Y, Ma X., Free PMC Article | 01/21/2010 |
| 1.4 angstroms resolution crystal structure of a truncated version of human betaB1 that resembles an in vivo age-related truncation | Crystal structure of truncated human betaB1-crystallin.
Van Montfort RL, Bateman OA, Lubsen NH, Slingsby C., Free PMC Article | 01/21/2010 |
| The current study showed that a different mutation in the same gene causes an autosomal recessive form of the disease. | Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract.
Cohen D, Bar-Yosef U, Levy J, Gradstein L, Belfair N, Ofir R, Joshua S, Lifshitz T, Carmi R, Birk OS. | 01/21/2010 |