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doi: 10.1111/j.1365-2265.2010.03904.x 47 RaymanMP
doi: 10.1113/jphysiol.1995.sp020960
Among cataract-associated CRYAB mutations, the D140N variant results in an altered tertiary structure, increased surface hydrophobicity, and increased heat-induced aggregation, with a dominant negative effect on its wild-type counterpart
Similarly, Gln supplementation effectively decreased proteinuria and enhanced glomerular health in mice treated with lipopolysaccharide (LPS)
X-linked cutis laxa: defective cross-link formation in collagen due to decreased lysyl oxidase activity
