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Research Article

A R54L Mutation of CRYAA Associated with Autosomal Dominant Nuclear Cataracts in a Chinese Family

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Pages 1221-1228 | Received 21 Jan 2013, Accepted 30 May 2013, Published online: 27 Sep 2013

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Read on this site (2)

Zhennan Zhao, Jiahui Chen, Wenyi Yuan, Yongxiang Jiang & Yi Lu. (2023) Association between single nucleotide polymorphisms in exon 3 of the alpha-A-crystallin gene and susceptibility to age-related cataract. Ophthalmic Genetics 44:2, pages 127-132.
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Zhenfei Yang, Qian Li, Xu Ma & Si Quan Zhu. (2015) Mutation Analysis in Chinese Families with Autosomal Dominant Hereditary Cataracts. Current Eye Research 40:12, pages 1225-1231.
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Articles from other publishers (15)

Seyed-Hashem Daryabari, Hossein Aghamollaei, Khosrow Jadidi, Ali Najafi & Esmaeil Behmard. (2022) Computational study of peptide interaction with mutant γ-crystallin with the aim of preventing dimerization. Structural Chemistry 34:2, pages 695-702.
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Rani Saira Saleem, Sorath Noorani Siddiqui, Saba Irshad, Naeem Mahmood Ashraf, Arslan Hamid, Muhammad Azmat Ullah Khan, Muhammad Imran Khan & Shazia Micheal. (2022) Targeted gene sequencing of FYCO1 identified a novel mutation in a Pakistani family for autosomal recessive congenital cataract . Molecular Genetics & Genomic Medicine 10:8.
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Prashanth Budnar, Ramakrishna Tangirala, Raman Bakthisaran & Ch. Mohan Rao. (2022) Protein Aggregation and Cataract: Role of Age-Related Modifications and Mutations in α-Crystallins. Biochemistry (Moscow) 87:3, pages 225-241.
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B. Tedesco, R. Cristofani, V. Ferrari, M. Cozzi, P. Rusmini, E. Casarotto, M. Chierichetti, F. Mina, M. Galbiati, M. Piccolella, V. Crippa & A. Poletti. (2022) Insights on Human Small Heat Shock Proteins and Their Alterations in Diseases. Frontiers in Molecular Biosciences 9.
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Ander Anasagasti, Maitane Ezquerra-Inchausti, Olatz Barandika, Maider Muñoz-CullaMaría M. Caffarel, David OtaeguiAdolfo López de Munain & Javier Ruiz-Ederra. (2018) Expression Profiling Analysis Reveals Key MicroRNA–mRNA Interactions in Early Retinal Degeneration in Retinitis Pigmentosa. Investigative Opthalmology & Visual Science 59:6, pages 2381.
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Kazem Khoshaman, Reza Yousefi, Ali Niazi, Ahmad Oryan, Ali Akbar Moosavi-Movahedi & Boris I Kurganov. (2018) Importance of the positively charged residue at position 54 to the chaperoning function, conformational stability and amyloidogenic nature of human αA-crystallin. The Journal of Biochemistry 163:3, pages 187-199.
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Li Li, Da-Bei Fan, Ya-Ting Zhao, Yun Li, De-Qian Kong, Fang-Fei Cai & Guang-Ying Zheng. (2017) Two novel mutations identified in ADCC families impair crystallin protein distribution and induce apoptosis in human lens epithelial cells. Scientific Reports 7:1.
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Kazem Khoshaman, Reza Yousefi & Ali Akbar Moosavi-Movahedi. (2017) Protective role of antioxidant compounds against peroxynitrite-mediated modification of R54C mutant αA-crystallin. Archives of Biochemistry and Biophysics 629, pages 43-53.
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Xian-Jin Cui, Feng-Yan Lv, Feng-Hua Li & Kun Zeng. (2017) Correlations of single nucleotide polymorphisms of CRYAA and CRYAB genes with the risk and clinicopathological features of children suffering from congenital cataract. Medicine 96:25, pages e7158.
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Kazem Khoshaman, Reza Yousefi, Ali Mohammad Tamaddon, Samira Sadat Abolmaali, Ahmad Oryan, Ali Akbar Moosavi-Movahedi & Boris I. Kurganov. (2017) The impact of different mutations at Arg54 on structure, chaperone-like activity and oligomerization state of human αA-crystallin: The pathomechanism underlying congenital cataract-causing mutations R54L, R54P and R54C. Biochimica et Biophysica Acta (BBA) - Proteins and Proteomics 1865:5, pages 604-618.
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Shari Javadiyan, Jamie E. Craig, Emmanuelle Souzeau, Shiwani Sharma, Karen M. Lower, John Pater, Theresa Casey, Trevor Hodson & Kathryn P. Burdon. (2016) Recurrent mutation in the crystallin alpha A gene associated with inherited paediatric cataract. BMC Research Notes 9:1.
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Usha P. Andley & Joshua W. Goldman. (2016) Autophagy and UPR in alpha-crystallin mutant knock-in mouse models of hereditary cataracts. Biochimica et Biophysica Acta (BBA) - General Subjects 1860:1, pages 234-239.
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Srinivasagan Ramkumar, Bency Thankappan, Noriko Fujii, Kalimuthusamy Natarajaseenivasan & Kumarasamy Anbarasu. (2015) Interaction of αA-crystallin F71L mutant with wild type αA- and αB-crystallins by mammalian two hybrid assay. International Journal of Biological Macromolecules 76, pages 102-108.
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Ming Der Perng & Roy A. Quinlan. 2015. The Big Book on Small Heat Shock Proteins. The Big Book on Small Heat Shock Proteins 401 434 .
Jiemin Liao, Xinyi Su, Peng Chen, Xu Wang, Liang Xu, Xiang Li, Lennard Thean, Clement Tan, Ava G. Tan, Wan-Ting Tay, Gyungah Jun, Yingfeng Zheng, Merwyn Chew, Ya Xing Wang, Queenie S. Tan, Veluchamy A. Barathi, Barbara E. Klein, Seang-Mei Saw, Eranga N. Vithana, E-Shyong Tai, Sudha K. Iyengar, Paul Mitchell, Chiea-Chuen Khor, Tin Aung, Jie Jin Wang, Jost B. Jonas, Yik-Ying Teo, Tien Yin Wong & Ching-Yu Cheng. (2014) Meta-analysis of genome-wide association studies in multiethnic Asians identifies two loci for age-related nuclear cataract. Human Molecular Genetics 23:22, pages 6119-6128.
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