Crystallin
From Proteopedia
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== Disease == | == Disease == | ||
| - | Several human cataracts have been linked to mutations in γ-D-crystallin<ref>PMID:11371638</ref>. | + | Mutations in α-A-crystallin and α-B-crystallin can cause myopathy<ref>PMID:12565801</ref>. Several human cataracts have been linked to mutations in γ-D-crystallin<ref>PMID:11371638</ref>. |
== 3D Structures of Crystallin == | == 3D Structures of Crystallin == | ||
Revision as of 08:11, 9 June 2024
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References
- ↑ Basak A, Bateman O, Slingsby C, Pande A, Asherie N, Ogun O, Benedek GB, Pande J. High-resolution X-ray crystal structures of human gammaD crystallin (1.25 A) and the R58H mutant (1.15 A) associated with aculeiform cataract. J Mol Biol. 2003 May 16;328(5):1137-47. PMID:12729747
- ↑ Horwitz J. Alpha-crystallin. Exp Eye Res. 2003 Feb;76(2):145-53. doi: 10.1016/s0014-4835(02)00278-6. PMID:12565801 doi:http://dx.doi.org/10.1016/s0014-4835(02)00278-6
- ↑ Pande A, Pande J, Asherie N, Lomakin A, Ogun O, King J, Benedek GB. Crystal cataracts: human genetic cataract caused by protein crystallization. Proc Natl Acad Sci U S A. 2001 May 22;98(11):6116-20. PMID:11371638 doi:http://dx.doi.org/10.1073/pnas.101124798
