Associated Papers
Protein Aggregation and Cataract: Role of Age-Related Modifications and Mutations in α-Crystallins.
Budnar P et al.
Biochemistry. Biokhimiia, 2022
Insights on Human Small Heat Shock Proteins and Their Alterations in Diseases.
Tedesco B et al.
Frontiers in Molecular Biosciences, 2022
Regulation of αA- and αB-crystallins via phosphorylation in cellular homeostasis.
Thornell E et al.
Cellular and Molecular Life Sciences : Cmls, 2015
A novel P20R mutation in the alpha-B crystallin gene causes autosomal dominant congenital posterior polar cataracts in a Chinese family.
Xia XY et al.
Bmc Ophthalmology, 2014
Molecular genetics of congenital nuclear cataract.
Deng H et al.
European Journal of Medical Genetics, 2014
The family of mammalian small heat shock proteins (HSPBs): implications in protein deposit diseases and motor neuropathies.
Boncoraglio A et al.
The International Journal of Biochemistry & Cell Biology, 2012
A new locus in chromosome 2q37-qter is associated with posterior polar cataract.
Ouyang S et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2012
Alteration of protein folding and degradation in motor neuron diseases: Implications and protective functions of small heat shock proteins.
Carra S et al.
Progress in Neurobiology, 2012
A knock-in mouse model for the R120G mutation of αB-crystallin recapitulates human hereditary myopathy and cataracts.
Andley UP et al.
Plos One, 2011
Congenital cataract causing mutants of αA-crystallin/sHSP form aggregates and aggresomes degraded through ubiquitin-proteasome pathway.
Raju I et al.
Plos One, 2011
Selective degradation of aggregate-prone CryAB mutants by HSPB1 is mediated by ubiquitin-proteasome pathways.
Zhang H et al.
Journal of Molecular and Cellular Cardiology, 2010
A novel mutation (F71L) in alphaA-crystallin with defective chaperone-like function associated with age-related cataract.
Bhagyalaxmi SG et al.
Biochimica Et Biophysica Acta, 2009
AlphaA-crystallin R49Cneo mutation influences the architecture of lens fiber cell membranes and causes posterior and nuclear cataracts in mice.
Andley UP
Bmc Ophthalmology, 2009
Congenital cataracts and their molecular genetics.
Hejtmancik JF
Seminars in Cell & Developmental Biology, 2008
Identification of a CRYAB mutation associated with autosomal dominant posterior polar cataract in a Chinese family.
Liu M et al.
Investigative Ophthalmology & Visual Science, 2006
A novel alphaB-crystallin mutation associated with autosomal dominant congenital lamellar cataract.
Liu Y et al.
Investigative Ophthalmology & Visual Science, 2006
Molecular genetics of cataract.
Hejtmancik JF et al.
Developments in Ophthalmology, 2003
Theoretical considerations regarding the study "Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans".
Veromann S
American Journal of Human Genetics, 2002
Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans.
Berry V et al.
American Journal of Human Genetics, 2001
[GENETIC COUNSELING IN HEREDITARY CONGENITAL CATARACT].
PECCININI D
Arquivos Brasileiros De Oftalmologia, 1964
Molecular genetic basis of inherited cataract and associated phenotypes.
Reddy MA et al.
Survey of Ophthalmology, 0
The genetic and molecular basis of congenital cataract.
Santana A et al.
Arquivos Brasileiros De Oftalmologia, 0