• Mutations in CRYAB cause different cardiomyopathies, skeletal myopathies mainly myofibrillar myopathy, and also cataracts. (wikipedia.org)
  • BACKGROUND AND PURPOSE: Mutations in the alpha-B-crystallin (CRYAB) gene have initially been associated with myofibrillar myopathy, dilated cardiomyopathy and cataracts. (bvsalud.org)
  • The R120G mutation in alphaB-crystallin causes desmin-related myopathy. (worktribe.com)
  • Here, we show that the mutation alters the in vitro binding characteristics of alphaB-crystallin for desmin filaments. (worktribe.com)
  • The apparent dissociation constant of R120G alphaB-crystallin was decreased while the binding capacity was increased significantly and as a result, desmin filaments aggregated. (worktribe.com)
  • These data suggest that the characteristic desmin aggregates seen as part of the disease histopathology can be caused by a direct, but altered interaction of R120G alphaB-crystallin with desmin filaments. (worktribe.com)
  • Our data also clearly demonstrate the beneficial role of wild-type alphaB-crystallin in the formation of desmin filament networks. (worktribe.com)
  • Collectively, our data suggest that R120G alphaB-crystallin directly promotes desmin filament aggregation, although this gain of a function can be repressed by some cell situations. (worktribe.com)
  • Alpha-crystallin B chain is a protein that in humans is encoded by the CRYAB gene. (wikipedia.org)
  • Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. (wikipedia.org)
  • 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. (wikipedia.org)
  • Specificity: Natural and recombinant Bovine Alpha-lactalbumin GeneName: LALBA ProteinName: Alpha-lactalbumin Alternative: Lactose synthase B protein,ALACTA Assay. (researchd.com)
  • Specificity: Natural and recombinant Bovine Alpha-hemoglobin-stabilizing protein GeneName: AHSP ProteinName: Alpha-hemoglobin-stabilizing protein. (researchd.com)
  • αB-crystallin, a stress-related protein that has recently been shown to be important for cell invasion and survival, was identified as a potential prognostic biomarker to predict the outcome of breast cancer patients. (biomedcentral.com)
  • Mutations in CRYAB could also cause restrictive cardiomyopathy. (wikipedia.org)
  • Such circumstances in muscle could explain the late onset characteristic of the myopathies caused by mutations in alphaB-crystallin. (worktribe.com)
  • All six exons of crystallin, beta A4 gene ( CRYBA4 ) were amplified by PCR methods and direct sequencing. (molvis.org)
  • Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. (wikipedia.org)
  • Alpha-crystallins also act as molecular chaperones that bind to denatured proteins, keep them in solution and thereby maintain the translucency of the lens. (lookformedical.com)
  • The proteins exist as large oligomers that are formed from ALPHA-CRYSTALLIN A CHAIN and ALPHA-CRYSTALLIN B CHAIN subunits. (lookformedical.com)
  • Immunohistochemistry was performed to validate the expression of two upregulated (EpCAM, FADD) and two downregulated (NDRG1, αB-crystallin) proteins in 190 paraffin-embedded tissue samples. (biomedcentral.com)
  • Two upregulated (EpCAM, FADD) and two downregulated (NDRG1, αB-crystallin) proteins were associated with the progression of breast cancer. (biomedcentral.com)
  • In both groups, serum antibodies display a consistent and prominent reaction to αB-crystallin (CRYAB) versus other myelin proteins. (tno.nl)
  • large heterooligomers consist of CRYAB homodimers and HSPB5:HSPB6 heterodimers but lacking HSPB6 homodimers. (affbiotech.cn)
  • Description: This is Double-antibody Sandwich Enzyme-linked immunosorbent assay for detection of Human Inter Alpha-Globulin Inhibitor H1 (ITIH1) in serum, plasma, tissue homogenates, cell lysates, cell culture supernates and other biological fluids. (jemsec.com)
  • Description: Enzyme-linked immunosorbent assay based on the Double-antibody Sandwich method for detection of Human Inter Alpha-Globulin Inhibitor H1 (ITIH1) in samples from Serum, plasma, tissue homogenates, cell lysates, cell culture supernates and other biological fluids with no significant corss-reactivity with analogues from other species. (jemsec.com)
  • Specificity: Natural and recombinant Bovine Alpha-actinin-3 GeneName: ACTN3 ProteinName: Alpha-actinin-3 Alternative: Alpha-actinin skeletal muscle isoform 3,F-actin. (researchd.com)
  • Microarray analysis of MSC during osteogenic differentiation identified three candidate genes for further examination and functional analysis: ID4, CRYAB, and SORT1. (biomedcentral.com)
  • Alpha and beta families are further divided into acidic and basic groups. (wikipedia.org)
  • Alpha crystallins are composed of two gene products: alpha-A and alpha-B, for acidic and basic, respectively. (wikipedia.org)
  • Description: A sandwich quantitative ELISA assay kit for detection of Human Inter Alpha-Globulin Inhibitor H1 (ITIH1) in samples from serum, plasma, tissue homogenates, cell lysates, cell culture supernates or other biological fluids. (jemsec.com)
  • For now, alpha-fetoprotein (AFP) is still the most widely acknowledged marker in early detection and follow-up surveillance for HCC [ 10 ]. (biomedcentral.com)
  • 2011). My research project expands previous studies conducted in my laboratory showing that the cytosolic holdase alphaB-Crystallin (CryAB or Hsp-B5) rescues the localization and trafficking response of ATP7B-H1069Q to Cu overload (D'Agostino M. et al. (unina.it)
  • Crystallinopathy felt by the buy Spin of the alphaB-crystallin( CryAB) applicant, back is as metabolic training( DRC) and separates PSCs. (augenta.net)
  • Alpha crystallins are composed of two gene products: alpha-A and alpha-B, for acidic and basic, respectively. (wikipedia.org)
  • 14. cDNA, genomic sequence and overexpression of crystallin alpha-B Gene (CRYAB) of the Giant Panda. (nih.gov)
  • From NCBI Gene: Mammalian lens crystallins are divided into alpha, beta, and gamma families. (nih.gov)
  • However, the association of genomic variation of CRYAB and breast cancer is not well studied. (nih.gov)
  • CRYAB promoter polymorphisms: influence on multiple sclerosis susceptibility and clinical presentation. (cdc.gov)
  • 2015), we focused on peptide 73-92, derived from the crystallin-domain of CryAB (Peptide1 or Pept1) in our WD cellular model. (unina.it)
  • alpha-A is preferentially restricted to the lens and alpha-B is expressed widely in many tissues and organs. (wikipedia.org)
  • We found that the alpha-crystallin domain is able to rescue the Golgi localization of the ATP7B-H1069Q mutant. (unina.it)
  • Our results revealed that Peptide1 retains the ability to rescue the Golgi localization of ATP7B-H1069Q, thereby fully mimicking the effects of the isolated α-crystallin domain and full-length CryAB. (unina.it)
  • In the first line of research, we studied the effects of phosphorylation on CryAB full length structure and function and how phosphorylation can influence CryAB chaperone activity on ATP7B mutant. (unina.it)
  • In addition, we found that all phosphomimetic substitutions lead to the formation of small oligomeric complexes containing CryAB, thereby suggesting that the reduction of the oligomerization state of CryAB does not correlate with the inhibition of its chaperone activity (Ciano M. et al. (unina.it)
  • Two additional functions of alpha crystallins are an autokinase activity and participation in the intracellular architecture. (wikipedia.org)
  • The aim of this study was to evaluate the association of polymorphic genotypes of CRYAB with breast cancer within a Taiwanese population. (nih.gov)
  • Those individuals with CRYAB C-802G CG and GG genotypes had 1.50- and 2.22-fold risk for breast cancer than those with the CC genotype. (nih.gov)
  • In allelic frequency analysis, the G allele CRYAB C-802G conferred a significantly (p=5.63×10(-10)) increased risk of breast cancer. (nih.gov)
  • Our results provide evidence that the G allele of CRYAB C-802G is correlated with breast cancer risk and this polymorphism may be a useful marker for early detection of breast cancer in clinical practice. (nih.gov)
  • To this aim, we dissected CryAB in its main domains: N-terminal, alpha-crystallin, and C-terminal. (unina.it)
  • 2016). In the second line of research, we verified the rescue ability of CryAB domains on ATP7B-H1069Q. (unina.it)
  • However, the effects of DEP were prevented by TAT-CryAB (1mg/kg, n=9). (elsevierpure.com)
  • In rat myocytes, while DEP increased reactive oxygen species (ROS) generation and phosphated CaMKII, TAT-CryAB prevented these effects. (elsevierpure.com)
  • Our results show that mimicking phosphorylation of serine 19 and 45, either singularly or in combination reduces CryAB chaperone function. (unina.it)