WebJul 1, 2005 · The expression of αB-crystallin is stress-inducible and associated with several protein folding diseases such as Alzheimer's disease [18,19], 21], Parkinson's disease [22,23], myopathies [24,25 ... Mutations in CRYAB cause different cardiomyopathies, skeletal myopathies mainly myofibrillar myopathy, and also cataracts. In addition, defects in this gene/protein have been associated with cancer and neurodegenerative diseases such as Alzheimer's disease and Parkinson's disease. See more Alpha-crystallin B chain is a protein that in humans is encoded by the CRYAB gene. It is part of the small heat shock protein family and functions as molecular chaperone that primarily binds misfolded proteins to prevent … See more Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of … See more Although not yet clearly understood, defective chaperone activity is expected to trigger the accumulation of protein aggregates and underlie the development of α … See more • Derham BK, Harding JJ (July 1999). "Alpha-crystallin as a molecular chaperone". Progress in Retinal and Eye Research. 18 (4): 463–509. doi:10.1016/S1350-9462(98)00030-5. PMID 10217480. S2CID 25124893. • Calinisan V, Gravem D, Chen … See more Alpha B chain crystallins (αBC) can be induced by heat shock, ischemia, and oxidation, and are members of the small heat shock protein (sHSP also known as the HSP20) family. … See more CRYAB has been shown to interact with: • CRYAA, • CRYBB2, • CRYGC, • HSPB2, See more • GeneReviews/NIH/NCBI/UW entry on Myofibrillar Myopathy See more
Sick Chaperones, Cellular Stress, and Disease NEJM
WebClinVar archives and aggregates information about relationships among variation and human health. WebJun 23, 2024 · The role of α-crystallin in context of ocular disease was investigated in animal models of disease as well as through analysis of human donor samples. ... H.C.; Xi, J.-H. The R116C Mutation in αA-crystallin Diminishes Its Protective Ability against Stress-induced Lens Epithelial Cell Apoptosis. J. Biol. Chem. 2002, 277, 10178–10186. graphing dotted or solid line
Current perspectives in Bietti crystalline dystrophy OPTH
WebFeb 11, 2024 · Many mutations that found in the crystallin protein genes are associated with diseases such as cataracts and myopathy [ 59 ]. Finally, the role of genetic mutations of α-crystallins on their structural unfolding and aggregation is discussed by Rao et al. [ 60 ]. WebIntroduction. Bietti crystalline dystrophy ((BCD), Online Mendelian Inheritance in Man (OMIM) OMIM210370) is an inherited autosomal recessive disease linked to biallelic … WebDec 1, 2012 · Evolutionary modification has also resulted in loss of expression of some human crystallin genes or of specific splice forms. Crystallin organization is essential … chirping noise front tire