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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 19 Aug 2016.

Crystallin, beta A1

CRYBA1, CRYB1, betaA3/A1-crystallin, Cryb
Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta acidic group member, encodes two proteins (crystallin, beta A3 and crystallin, beta A1) from a single mRNA, the latter protein is 17 aa shorter than crystallin, beta A3 and is generated by use of an alternate translation initiation site. Deletion of exons 3 and 4 causes the autosomal dominant disease 'zonular cataract with sutural opacities'. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: CRYAA, alphaB-crystallin, betaB1-crystallin, CAE, HAD
Papers on CRYBA1
Lysosomes: Regulators of autophagy in the retinal pigmented epithelium.
Review
New
Handa et al., Baltimore, United States. In Exp Eye Res, Mar 2016
In addition, our laboratory has been studying animal models in which the gene (Cryba1) for βA3/A1-crystallin is deficient.
βA3/A1-crystallin and persistent fetal vasculature (PFV) disease of the eye.
Review
New
Sinha et al., Baltimore, United States. In Biochim Biophys Acta, Jan 2016
One such model results from mutation or elimination of the gene (Cryba1) encoding βA3/A1-crystallin.
Modulation of V-ATPase by βA3/A1-Crystallin in Retinal Pigment Epithelial Cells.
New
Sinha et al., Baltimore, United States. In Adv Exp Med Biol, Dec 2015
In order to understand the physiological functions of βA3/A1-crystallin in RPE cells, we generated conditional knockout (cKO) mice where Cryba1, the gene encoding βA3/A1-crystallin, is deleted specifically from the RPE using the Cre-loxP system.
Establishment of a recessive mutant small-eye rat with lens involution and retinal detachment associated with partial deletion and rearrangement of the Cryba1 gene.
New
Tsuchida et al., Hirosaki, Japan. In Biochem J, Nov 2015
Microarray analysis showed that the expression level of the Cryba1 gene encoding βA3/A1-crystallin on chromosome 10 was markedly decreased in HiSER eyes.
Phenotypes of Recessive Pediatric Cataract in a Cohort of Children with Identified Homozygous Gene Mutations (An American Ophthalmological Society Thesis).
New
Alkuraya et al., Riyadh, Saudi Arabia. In Trans Am Ophthalmol Soc, Sep 2015
The remaining 12 families each had mutations in 12 different genes (CRYAA, CRYBA1, AKR1E2, AGK, BFSP2, CYP27A1, CYP51A1, EPHA2, GCNT2, LONP1, RNLS, WDR87) with unique phenotypes noted for CYP27A1 (bilateral juvenile fleck with anterior and/or posterior capsular cataract and later cerebrotendinous xanthomatosis), EPHA2 (bilateral anterior persistent fetal vasculature), and BFSP2 (bilateral flecklike with cloudy cortex).
Genetic structure and diversity of the endangered growling grass frog in a rapidly urbanizing region.
New
Melville et al., Melbourne, Australia. In R Soc Open Sci, Aug 2015
We used mitochondrial DNA (mtDNA) and microsatellites to study the genetic structure and diversity of L. raniformis across Melbourne's urban fringe, and also screened four nuclear gene regions (POMC, RAG-1, Rhod and CRYBA1).
Exome Sequencing and Epigenetic Analysis of Twins Who Are Discordant for Congenital Cataract.
New
Yan et al., Wuhan, China. In Twin Res Hum Genet, Aug 2015
METHODS: A patient with a congenital cataract and her twin sister were assessed for genetic factors that might contribute to their discordant phenotypes by mutation screening of 11 candidate genes (CRYGC, CRYGD, CRYAA, CRYAB, CRYBA1, CRYBB1, CRYBB2, MIP, HSF4, GJA3, and GJA8), exome analysis followed by Sanger sequencing of 10 additional candidate genes (PLEKHO2, FRYL, RBP3, P2RX2, GSR, TRAM1, VEGFA, NARS2, CADPS, and TEKT4), and promoter methylation analysis of five representative genes (TRAM1, CRYAA, HSF4, VEGFA, GJA3, DCT) plus one additional candidate gene (FTL).
βA3/A1-crystallin: more than a lens protein.
Review
Sinha et al., Baltimore, United States. In Prog Retin Eye Res, 2015
We have explored possible functions for the polypeptides (βA3-and βA1-crystallins) encoded by Cryba1, one of the 6 β-crystallin genes, using a spontaneous rat mutant and genetically engineered mouse models.
βA3/A1-crystallin is a critical mediator of STAT3 signaling in optic nerve astrocytes.
Sinha et al., Baltimore, United States. In Sci Rep, 2014
We have previously reported that in the Nuc1 rat, which has a spontaneous mutation in Cryba1 (the gene encoding βA3/A1-crystallin), astrocytes exhibit decreased Notch signaling, leading to reduced promoter activity for glial fibrillary acidic protein (GFAP).
Increased Lipocalin-2 in the retinal pigment epithelium of Cryba1 cKO mice is associated with a chronic inflammatory response.
Sinha et al., Baltimore, United States. In Aging Cell, 2014
It accumulates significantly with age in retinal pigment epithelial (RPE) cells of Cryba1 conditional knockout (cKO) mice, but not in control mice.
Differential effect of cataract-associated mutations in MAF on transactivation of MAF target genes.
Robinson et al., Amritsar, India. In Mol Cell Biochem, 2014
The mutation R288P significantly reduced the expression of the CRYGA and CRYBA1 constructs but had no significant effect on the other two constructs.
Congenital cataracts due to a novel 2‑bp deletion in CRYBA1/A3.
Cao et al., Shijiazhuang, China. In Mol Med Report, 2014
In the present study, a novel deletion mutation (c.590‑591delAG) in exon 6 of CRYBA1/A3 was identified in a large family with autosomal dominant congenital cataracts.
Lysosomal-mediated waste clearance in retinal pigment epithelial cells is regulated by CRYBA1/βA3/A1-crystallin via V-ATPase-MTORC1 signaling.
Sinha et al., Baltimore, United States. In Autophagy, 2014
We found that in RPE cells, CRYBA1/βA3/A1-crystallin, a lens protein also expressed in RPE, is localized to lysosomes, where it regulates endolysosomal acidification by modulating the V-ATPase, thereby controlling both phagocytosis and autophagy.
The benefits of being β-crystallin heteromers: βB1-crystallin protects βA3-crystallin against aggregation during co-refolding.
GeneRIF
Yan et al., Beijing, China. In Biochemistry, 2012
ThebetaA3-crystallin and betaB1-crystallin homomers and the betaA3/betaB1-crystallin heteromer all undergo similar five-state folding pathways which include one dimeric and two monomeric intermediates.
Mutation in the βA3/A1-crystallin gene impairs phagosome degradation in the retinal pigmented epithelium of the rat.
GeneRIF
Sinha et al., Baltimore, United States. In J Cell Sci, 2011
Mutation in the crystallin A1 gene impairs phagosome degradation in the retinal pigmented epithelium
Expression of βA3/A1-crystallin in the developing and adult rat eye.
GeneRIF
Sinha et al., Baltimore, United States. In J Mol Histol, 2011
expression of betaA3/A1-crystallin is controlled differentially in various eye tissues with lens being the site of greatest expression
A recurrent mutation in CRYBA1 is associated with an autosomal dominant congenital nuclear cataract disease in a Chinese family.
GeneRIF
Zhao et al., Beijing, China. In Mol Vis, 2010
The c.279-281delGAG mutation in CRYBA1 is responsible for the autosomal dominant congenital nuclear cataract disease in this Chinese family.
A G→T splice site mutation of CRYBA1/A3 associated with autosomal dominant suture cataracts in a Chinese family.
GeneRIF
Ma et al., Beijing, China. In Mol Vis, 2010
A G-->T splice site mutation of CRYBA1/A3 associated with autosomal dominant suture cataracts in a Chinese family.
[Progress in pathogenic genes and their functions of congenital cataract].
Review
Cheng et al., Beijing, China. In Zhonghua Yan Ke Za Zhi, 2010
Currently, at least 22 specific genes associated with isolated inherited cataract have been identified: ten crystallin genes: CRYAA, CRYAB, CRYBA1/A3, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGC, CRYGD, CRYGS; 4 membrane protein genes: GJA3, GJA8, MIP, LIM2; three growth and transcription factor genes: PITX3, MAF, HSF4; two cytoskeletal protein gene: BSFP1, BSFP2; chromatin modifying protein-4B gene: CHMP4B, EPHA2 and NHS, it is likely that more genes remain to be discovered.
Mouse models of cataract.
Review
Graw, München, Germany. In J Genet, 2009
In this review, several mouse models will be discussed with emphasis on the underlying genetic basis rather than the morphological features as exemplified by the following: (i) the most frequent mutations in congenital cataracts affect genes coding for gamma-crystallins (gene symbol: Cryg); (ii) some postnatal, progressive cataracts have been characterized by mutations in the beta-crystallin encoding genes (Cryb); (iii) mutations in genes coding for membrane proteins like MIP or connexins lead to congenital cataracts; (iv) mutations in genes coding for transcription factors such as FoxE3, Maf, Sox1, and Six5 cause cataracts; (v) mouse models suffering from hereditary age-related cataracts (e.g.
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