Associated Papers
[Overlap of neuropathy and myopathy genes: convergence of two entities].
Stojkovic T et al.
Medecine Sciences : M/s, 2025
Desmin and its molecular chaperone, the αB-crystallin: How post-translational modifications modulate their functions in heart and skeletal muscles?
Claeyssen C et al.
Biochimie, 2024
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
A new heterozygous mutation in the stop codon of CRYAB (p.X176Y) is liable for congenital posterior pole cataract in a Chinese family.
Yu Y et al.
Ophthalmic Genetics, 2021
Peculiar muscle imaging findings in a patient with alphaB-crystallinopathy and axial myopathy.
Bortolani S et al.
Journal of the Neurological Sciences, 2020
αB-crystallin as a promising target in pathological conditions - A review.
Maksimiuk M et al.
Annals of Agricultural and Environmental Medicine : Aaem, 2020
A novel dominant mutation in CRYAB gene leading to a severe phenotype with childhood onset.
Marcos AT et al.
Molecular Genetics & Genomic Medicine, 2020
Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results.
Sarparanta J et al.
International Journal of Molecular Sciences, 2020
A novel homozygous initiation codon variant associated with infantile alpha-Bcrystallinopathy in a Chinese family.
Ma K et al.
Molecular Genetics & Genomic Medicine, 2019
αB-Crystallin Phosphorylation: Advances and Problems.
Muranova LK et al.
Biochemistry. Biokhimiia, 2018
The role of αB-crystallin in skeletal and cardiac muscle tissues.
Dimauro I et al.
Cell Stress & Chaperones, 2018
A novel dominant D109A CRYAB mutation in a family with myofibrillar myopathy affects αB-crystallin structure.
Fichna JP et al.
Bba Clinical, 2017
Phosphorylation of αB-crystallin: Role in stress, aging and patho-physiological conditions.
Bakthisaran R et al.
Biochimica Et Biophysica Acta, 2016
Regulation of αA- and αB-crystallins via phosphorylation in cellular homeostasis.
Thornell E et al.
Cellular and Molecular Life Sciences : Cmls, 2015
Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts.
Jiao X et al.
Plos One, 2015
O-GlcNAcylation of αB-crystallin regulates its stress-induced translocation and cytoprotection.
Krishnamoorthy V et al.
Molecular and Cellular Biochemistry, 2013
Changes in the quaternary structure and function of MjHSP16.5 attributable to deletion of the IXI motif and introduction of the substitution, R107G, in the α-crystallin domain.
Quinlan RA et al.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2013
Binding determinants of the small heat shock protein, αB-crystallin: recognition of the 'IxI' motif.
Delbecq SP et al.
The Embo Journal, 2012
sHSP in the eye lens: crystallin mutations, cataract and proteostasis.
Clark AR et al.
The International Journal of Biochemistry & Cell Biology, 2012
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
Multiple molecular architectures of the eye lens chaperone αB-crystallin elucidated by a triple hybrid approach.
Braun N et al.
Proceedings of the National Academy of Sciences of the United States of America, 2011
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
BAG3 directly interacts with mutated alphaB-crystallin to suppress its aggregation and toxicity.
Hishiya A et al.
Plos One, 2011
Molecular mechanisms of α-crystallinopathy and its therapeutic strategy.
Sanbe A
Biological & Pharmaceutical Bulletin, 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
Solid-state NMR and SAXS studies provide a structural basis for the activation of alphaB-crystallin oligomers.
Jehle S et al.
Nature Structural & Molecular Biology, 2010
The p.G154S mutation of the alpha-B crystallin gene (CRYAB) causes late-onset distal myopathy.
Reilich P et al.
Neuromuscular Disorders : Nmd, 2010
Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease.
Goldfarb LG et al.
The Journal of Clinical Investigation, 2009
Functions of the intermediate filament cytoskeleton in the eye lens.
Song S et al.
The Journal of Clinical Investigation, 2009
A clinical phenotype of distal hereditary motor neuronopathy type II with a novel HSPB1 mutation.
Ikeda Y et al.
Journal of the Neurological Sciences, 2009
Protein-protein interactions between lens vimentin and alphaB-crystallin using FRET acceptor photobleaching.
Song S et al.
Molecular Vision, 2008
Intermediate filament diseases: desminopathy.
Goldfarb LG et al.
Advances in Experimental Medicine and Biology, 2008
alphaB-crystallin mutation in dilated cardiomyopathies: low prevalence in a consecutive series of 200 unrelated probands.
Pilotto A et al.
Biochemical and Biophysical Research Communications, 2006
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
Myofibrillar myopathy caused by novel dominant negative alpha B-crystallin mutations.
Selcen D et al.
Annals of Neurology, 2003