| Characterization of betaB2-crystallin tryptophan mutants reveals two different folding states in solution. | Characterization of βB2-crystallin tryptophan mutants reveals two different folding states in solution.
Sun J, Morishima K, Inoue R, Sugiyama M, Takata T., Free PMC Article | 07/4/2024 |
| ATCUN-like Copper Site in betaB2-Crystallin Plays a Protective Role in Cataract-Associated Aggregation. | ATCUN-like Copper Site in βB2-Crystallin Plays a Protective Role in Cataract-Associated Aggregation.
Tovar-Ramírez ME, Schuth N, Rodríguez-Meza O, Kroll T, Saab-Rincon G, Costas M, Lampi K, Quintanar L., Free PMC Article | 10/19/2023 |
| Insight into Pathogenic Mechanism Underlying the Hereditary Cataract Caused by betaB2-G149V Mutation. | Insight into Pathogenic Mechanism Underlying the Hereditary Cataract Caused by βB2-G149V Mutation.
Wu J, Chen S, Xu J, Xu W, Zheng S, Tian Q, Luo C, Chen X, Shentu X., Free PMC Article | 06/2/2023 |
| Conformational stability of the deamidated and mutated human betaB2-crystallin. | Conformational stability of the deamidated and mutated human βB2-crystallin.
Velasco-Bolom JL, Dominguez L. | 04/12/2023 |
| CRYbetaB2 enhances tumorigenesis through upregulation of nucleolin in triple negative breast cancer. | CRYβB2 enhances tumorigenesis through upregulation of nucleolin in triple negative breast cancer.
Yan Y, Narayan A, Cho S, Cheng Z, Liu JO, Zhu H, Wang G, Wharram B, Lisok A, Brummet M, Saeki H, Huang T, Gabrielson K, Gabrielson E, Cope L, Kanaan YM, Afsari A, Naab T, Yfantis HG, Ambs S, Pomper MG, Sukumar S, Merino VF., Free PMC Article | 01/1/2022 |
| A novel CRYBB2 mutation causes autosomal dominant cataract: A report from a Chinese family. | A novel CRYBB2 mutation causes autosomal dominant cataract: A report from a Chinese family.
Xu LJ, Lv ZG, Liu Y, Zhang XX, Cui YX, Li XC, Zhu YJ, He J. | 12/18/2021 |
| Polymorphisms in CRYBB2 encoding betaB2-crystallin are associated with antisaccade performance and memory function. | Polymorphisms in CRYBB2 encoding βB2-crystallin are associated with antisaccade performance and memory function.
Giegling I, Hartmann AM, Genius J, Konte B, Maul S, Straube A, Eggert T, Mulert C, Leicht G, Karch S, Hegerl U, Pogarell O, Hölter SM, Möller HJ, Graw J, Rujescu D., Free PMC Article | 07/31/2021 |
| betaB2 W151R mutant is prone to degradation, aggregation and exposes the hydrophobic side chains in the fourth Greek Key motif. | βB2 W151R mutant is prone to degradation, aggregation and exposes the hydrophobic side chains in the fourth Greek Key motif.
Xu J, Wang H, Wang A, Xu J, Fu C, Jia Z, Yao K, Chen X. | 04/24/2021 |
| Cataract-Associated New Mutants S175G/H181Q of betaBeta2-Crystallin and P24S/S31G of gammaD-Crystallin Are Involved in Protein Aggregation by Structural Changes. | Cataract-Associated New Mutants S175G/H181Q of βΒ2-Crystallin and P24S/S31G of γD-Crystallin Are Involved in Protein Aggregation by Structural Changes.
Song IK, Na S, Paek E, Lee KJ., Free PMC Article | 02/27/2021 |
| Crystallin beta B2 (CRYbetaB2) overexpression in triple-negative breast cancers increases invasive cellular behaviors, tumor growth, IL6 production, immune cell chemoattraction, and the expression of metastasis-associated genes. Combined overexpression of both CRYbetaB2 and the pseudogene, CRYbetaB2P1, is found to suppress cell growth. | A functional role for the cancer disparity-linked genes, CRYβB2 and CRYβB2P1, in the promotion of breast cancer.
Barrow MA, Martin ME, Coffey A, Andrews PL, Jones GS, Reaves DK, Parker JS, Troester MA, Fleming JM., Free PMC Article | 02/29/2020 |
| CRYB2 cataract-associating mutations S31W and R145W destabilize CRYB2 and promote thermal aggregation.The number of Trp fluorophores in CRYB2 is evolutionarily optimized to exquisitely perform their structural roles in the lens. | Introduction of an extra tryptophan fluorophore by cataract-associating mutations destabilizes βB2-crystallin and promotes aggregation.
Xu J, Zhao WJ, Chen XJ, Yao K, Yan YB. | 06/1/2019 |
| Here we identify the first Taiwanese cerulean cataract family carrying a CRYBB2_Q155X mutation. | A CRYBB2 mutation in a Taiwanese family with autosomal dominant cataract.
Ching YH, Yeh JI, Fan WL, Chen KC, Yeh MC, Woon PY, Lee YC. | 03/9/2019 |
| 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 |
| conserved Trp residues might play a more crucial role in the correct folding and structural integrity of beta-crystallin domains than in gamma-crystallins | Effects of cataract-causing mutations W59C and W151C on βB2-crystallin structure, stability and folding.
Zhao WJ, Xu J, Chen XJ, Liu HH, Yao K, Yan YB. | 03/24/2018 |
| The first pregnancy was terminated in week 22. Copy number variation analysis revealed, in both the aborted fetus and the mother, a 495 kb duplication at 22q11.23 encompassing CRYBB3 and CRYBB2 | Early detection of bilateral cataracts in utero may represent a manifestation of severe congenital disease.
Trkova M, Hynek M, Dudakova L, Becvarova V, Hlozanek M, Raskova D, Vincent AL, Liskova P. | 10/28/2017 |
| Study demonstrates that, in solution, human betaB2-crystallin is not domain swapped and exhibits a face-en-face dimer structure similar to the crystal structure of truncated betaB1-crystallin. | Human βB2-Crystallin Forms a Face-en-Face Dimer in Solution: An Integrated NMR and SAXS Study.
Xi Z, Whitley MJ, Gronenborn AM., Free PMC Article | 08/26/2017 |
| This is the first study to analyze the association between genetic variations in the CRYBB2 gene with PCa. rs9608380, associated with Prostate cancer, is a potentially functional variant | Analyzing the Association of Polymorphisms in the CRYBB2 Gene with Prostate Cancer Risk in African Americans.
Faruque MU, Paul R, Ricks-Santi L, Jingwi EY, Ahaghotu CA, Dunston GM., Free PMC Article | 08/8/2015 |
| Congenital cataracts were caused by the de novo gene conversion event in CRYBB2 in a consanguineous Jewish Ashkenazi family. | Congenital cataracts: de novo gene conversion event in CRYBB2.
Garnai SJ, Huyghe JR, Reed DM, Scott KM, Liebmann JM, Boehnke M, Richards JE, Ritch R, Pawar H., Free PMC Article | 06/27/2015 |
| missense mutation in CRYBB2 gene leads to progressive congenital membranous cataract by impacting the solubility and function of betaB2-crystallin | A missense mutation in CRYBB2 leads to progressive congenital membranous cataract by impacting the solubility and function of βB2-crystallin.
Chen W, Chen X, Hu Z, Lin H, Zhou F, Luo L, Zhang X, Zhong X, Yang Y, Wu C, Lin Z, Ye S, Liu Y, Study Group of CCPMOH., Free PMC Article | 12/20/2014 |
| The distinct behaviors of the mutants suggested that the residue at position 188 might play a regulatory role in betaB2-crystallin aggregation/fibrillization but not reside in the core of the aggregates/fibrils. | Cataract-linked mutation R188H promotes βB2-crystallin aggregation and fibrillization during acid denaturation.
Xi YB, Zhang K, Dai AB, Ji SR, Yao K, Yan YB. | 07/26/2014 |
| The last strand at the C-terminus of CRYBB2 is important for the protein stability and assembly. | The importance of the last strand at the C-terminus in βB2-crystallin stability and assembly.
Zhang K, Zhao WJ, Leng XY, Wang S, Yao K, Yan YB. | 03/29/2014 |
| Identification of the first CRYBB2 mutation in an Italian family causing a clinical picture of autosomal dominant congenital cataract. | A novel CRYBB2 missense mutation causing congenital autosomal dominant cataract in an Italian family.
Faletra F, d'Adamo AP, Pensiero S, Athanasakis E, Catalano D, Bruno I, Gasparini P. | 09/21/2013 |
| The congenital cataract-linked A2V mutation impairs tetramer formation and promotes aggregation of betaB2-crystallin. | The congenital cataract-linked A2V mutation impairs tetramer formation and promotes aggregation of βB2-crystallin.
Xu J, Wang S, Zhao WJ, Xi YB, Yan YB, Yao K., Free PMC Article | 06/15/2013 |
| A novel missense mutation, p.Arg188His, in CRYBB2 is associated with congenital cataract in a family of Croatian origin. | Identification of a novel CRYBB2 missense mutation causing congenital autosomal dominant cataract.
Weisschuh N, Aisenbrey S, Wissinger B, Riess A., Free PMC Article | 07/21/2012 |
| The Asp residue at position 4 of betaB2-crystallin in the lenses of the aged human eye lenses undergoes a significant degree of inversion and isomerization to the biologically D-beta-Asp. | Simultaneous stereoinversion and isomerization at the Asp-4 residue in βB2-crystallin from the aged human eye lenses.
Fujii N, Kawaguchi T, Sasaki H, Fujii N. | 12/17/2011 |