Citations for
1CRYAB
A P39R mutation at the N-terminal domain of human αB-crystallin regulates its oligomeric state and chaperone-like activity.
Numoto N, Kita A, Fujii N, Miki K.
Biochem Biophys Res Commun 425(3):601-6. doi: 10.1016/j.bbrc.2012.07.138. Epub 2012 Aug 1. 2012
2CRYAB, DRM
Infantile onset myofibrillar myopathy due to recessive CRYAB mutations.
Forrest KM, Al-Sarraj S, Sewry C, Buk S, Tan SV, Pitt M, Durward A, McDougall M, Irving M, Hanna MG, Matthews E, Sarkozy A, Hudson J, Barresi R, Bushby K, Jungbluth H, Wraige E.
Neuromuscul Disord 21(1):37-40. Epub 2010 Dec 3. 2011
3CRYAB, CRYGC, CRYGD, GJA8
Mutation screening and genotype phenotype correlation of α-crystallin, γ-crystallin and GJA8 gene in congenital cataract.
Kumar M, Agarwal T, Khokhar S, Kumar M, Kaur P, Roy TS, Dada R.
Mol Vis. 17:693-707. 2011
4CRYAB, MMFIH
Infantile muscular dystrophy in Canadian aboriginals is an αB-crystallinopathy.
Del Bigio MR, Chudley AE, Sarnat HB, Campbell C, Goobie S, Chodirker BN, Selcen D.
Ann Neurol 69(5):866-71. doi: 10.1002/ana.22331. Epub 2011 Feb 18. 2011
5CRYAB, LBH
Synergistic efficacy of LBH and alphaB-crystallin through inhibiting transcriptional activities of p53 and p21.
Deng Y, Li Y, Fan X, Yuan W, Xie H, Mo X, Yan Y, Zhou J, Wang Y, Ye X, Wan Y, Wu X.
BMB Rep 43(6):432-7.PMID: 20587334 2010
6ALXD1, CRYAB, GFAP
Suppression of GFAP toxicity by {alpha}B-crystallin in mouse models of Alexander disease.
Hagemann TL, Boelens WC, Wawrousek EF, Messing A.
Hum Mol Genet um Mol Genet. 2009 Jan 7. [Epub ahead of print] 2009
7CRYAB
Sensitization of RPE cells by alphaB-crystallin siRNA to SAHA-induced stage 1 apoptosis through abolishing the association of alphaB-crystallin with HDAC1 in SC35 speckles.
Noh SJ, Jeong WJ, Rho JH, Shin DM, Ahn HB, Park WC, Rho SH, Soung YH, Kim TH, Park BS, Yoo YH.
Invest Ophthalmol Vis Sci. 49(11):4753-9. 2008
8CRYAB, DES
Intermediate filament diseases: desminopathy.
Goldfarb LG, Olivé M, Vicart P, Goebel HH.
Adv Exp Med Biol 642:131-64. 2008
9CRYAB
Protective and therapeutic role for alphaB-crystallin in autoimmune demyelination.
Ousman SS, Tomooka BH, van Noort JM, Wawrousek EF, O'Connor KC, Hafler DA, Sobel RA, Robinson WH, Steinman L.
Nature. 448(7152):474-9. 2007
10ALXD1, GFAP, CRYAB, HSPB1
The Alexander disease-causing glial fibrillary acidic protein mutant, R416W, accumulates into Rosenthal fibers by a pathway that involves filament aggregation and the association of alpha B-crystallin and HSP27.
Der Perng M, Su M, Wen SF, Li R, Gibbon T, Prescott AR, Brenner M, Quinlan RA.
Am J Hum Genet 79(2):197-213. Epub 2006 Jun 12. 2006
11CRYAA, CRYAB
The interaction between alphaA- and alphaB-crystallin is sequence-specific.
Sreelakshmi Y, Sharma KK.
Mol Vis 12:581-7. 2006
12CRYAB
Conserved F84 and P86 residues in alphaB-crystallin are essential to effectively prevent the aggregation of substrate proteins.
Santhoshkumar P, Sharma KK.
Protein Sci 15(11):2488-98. 2006
13CRYAB
Identification of a CRYAB mutation associated with autosomal dominant posterior polar cataract in a Chinese family.
Liu M, Ke T, Wang Z, Yang Q, Chang W, Jiang F, Tang Z, Li H, Ren X, Wang X, Wang T, Li Q, Yang J, Liu J, Wang QK.
Invest Ophthalmol Vis Sci 47(8):3461-6. 2006
14APP,CRYAB
alphaB-crystallin competes with Alzheimer's disease beta-amyloid peptide for peptide-peptide interactions and induces oxidation of Abeta-Met35.
Narayanan S, Kamps B, Boelens WC, Reif B.
FEBS Lett 580(25):5941-6. Epub 2006 Oct 5. 2006
15CRYAB, DRM
Myofibrillar myopathy with congenital cataract and skeletal anomalies without mutations in the desmin, alphaB-crystallin, myotilin, LMNA or SEPN1 genes.
Kostera-Pruszczyk A, Goudeau B, Ferreiro A, Richard P, Simon S, Vicart P, Fidzianska A.
Neuromuscul Disord 16(11):759-62. Epub 2006 Sep 26. 2006
16CMD1II, CRYAB
Alpha B-crystallin mutation in dilated cardiomyopathy.
Inagaki N, Hayashi T, Arimura T, Koga Y, Takahashi M, Shibata H, Teraoka K, Chikamori T, Yamashina A, Kimura A.
Biochem Biophys Res Commun 342(2):379-86. Epub 2006 Feb 8. 2006
17CMD1II, CRYAB
alphaB-crystallin mutation in dilated cardiomyopathies: low prevalence in a consecutive series of 200 unrelated probands.
Pilotto A, Marziliano N, Pasotti M, Grasso M, Costante AM, Arbustini E.
Biochem Biophys Res Commun 346(4):1115-7. Epub 2006 Jun 12. No abstract available. 2006
18CRYAB, HSPB1, HSPB3, HSPB6, HSPB8
Interactions of HSP22 (HSPB8) with HSP20, alphaB-crystallin, and HSPB3.
Fontaine JM, Sun X, Benndorf R, Welsh MJ.
Biochem Biophys Res Commun 337(3):1006-11. Epub 2005 Oct 3. 2005
19BAX, CRYAB
Human alphaA- and alphaB-crystallins bind to Bax and Bcl-X(S) to sequester their translocation during staurosporine-induced apoptosis.
Mao YW, Liu JP, Xiang H, Li DW.
Cell Death Differ. 11(5):512-26. 2004
20CRYAB
Association of the chaperone alphaB-crystallin with titin in heart muscle.
Bullard B, Ferguson C, Minajeva A, Leake MC, Gautel M, Labeit D, Ding L, Labeit S, Horwitz J, Leonard KR, Linke WA.
J Biol Chem. 279(9):7917-24. 2004
21CRYAB, DRM
Myofibrillar myopathy caused by novel dominant negative alpha B-crystallin mutations.
Selcen D, Engel AG.
Ann Neurol 54(6):804-10. 2003
22CRYAB, CRYBB2, CRYGC
Detection of protein-protein interactions among lens crystallins in a mammalian two-hybrid system assay.
Fu L, Liang JJ.
J Biol Chem 277(6):4255-60. Epub 2001 Nov 7. 2002
23CPP2, CRYAB
Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans.
Berry V, Francis P, Reddy MA, Collyer D, Vithana E, MacKay I, Dawson G, Carey AH, Moore A, Bhattacharya SS, Quinlan RA.
Am J Hum Genet 69(5):1141-5. 2001
24CRYAB, DES, DESM
Structural and functional analysis of a new desmin variant causing desmin-related myopathy.
Goudeau B, Dagvadorj A, Rodrigues-Lima F, Nedellec P, Casteras-Simon M, Perret E, Langlois S, Goldfarb L, Vicart P.
Hum Mutat 18(5):388-96. 2001
25CRYAB, PSMA7
Interaction between alphaB-crystallin and the human 20S proteasomal subunit C8/alpha7.
Boelens WC, Croes Y, de Jong WW.
Biochim Biophys Acta 1544(1-2):311-9. 2001
26CRYAB, DRM
Clinical and molecular studies of a large family with desmin-associated restrictive cardiomyopathy.
Zhang J, Kumar A, Stalker HJ, Virdi G, Ferrans VJ, Horiba K, Fricker FJ, Wallace MR.
Clin Genet 59(4):248-56. 2001
27CRYAB
Interaction of human recombinant alphaA- and alphaB-crystallins with early and late unfolding intermediates of citrate synthase on its thermal denaturation.
Rajaraman K, Raman B, Ramakrishna T, Rao CM.
FEBS Lett. 497(2-3):118-23. 2001
28DRM, CRYAB
Mutation R120G in alphaB-crystallin, which is linked to a desmin-related myopathy, results in an irregular structure and defective chaperone-like function.
Bova MP, et al.
Proc Natl Acad Sci U S A 96(11):6137-42. 1999
29CRYAB, DRM
The cardiomyopathy and lens cataract mutation in alphaB-crystallin alters its protein structure, chaperone activity, and interaction with intermediate filaments in vitro.
Perng MD, Muchowski PJ, van Den IJssel P, Wu GJ, Hutcheson AM, Clark JI, Quinlan RA.
J Biol Chem 274(47):33235-43 1999
30CRYAB, DRM
A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy.
Vicart P, et al.
Nat Genet 20 : 92-95. 1998
31CRYAB, HSPB2
Identification and characterization of the gene encoding a new member of the alpha-crystallin/Small hsp family, closely linked to the alphaB-crystallin gene in a head-to-head manner.
Iwaki A, Nagano T, Nakagawa M, Iwaki T, Fukumaki Y.
Genomics 45(2):386-94. 1997
32CRYAA,CRYAB,HSPBL1,HSPBL2,HSPBL3,HSPB1,HSPB2,HSPB3,HSPB7
Structure-function studies on small heat shock protein oligomeric assembly and interaction with unfolded polypeptides.
Leroux MR, Melki R, Gordon B, Batelier G, Candido EP.
J Biol Chem 272(39):24646-56 1997
33ACAT1, ATM, CRYAB, FDX1, FGF3, GRIA4, NCAM1, D11S1818, D11S1897, D11S1960, D11S2
Generation of a panel of radiation-reduced hybrids containing human 11q22-23 fragments bearing a HPRT selective marker : identification of hybrids carrying various subregions around the ataxia-telangiectasia locus.
Ejima Y, et al.
Somat Cell Mol Genet 22 : 499-509. 1996
34CRYAB
G/T polymorphism in CRYA2 gene.
Ashworth A, et al.
Hum Mol Genet 3 : 1712. 1994
35CRYAB, D11S877E
Subregional physical mapping of an alphaB-crystallin sequence and of a new expressed sequence D11S877E to human 11q.
Jeanpierre C, et al.
Mamm Genome 4 : 104-108. 1993
36CRYAB
Mapping of the CRYA2 gene proximal to the breakpoint of the constitutional t(11;22) specifies the regional assignment on 11q22.3-q23.3.
Austruy E, et al.
(HGM11) Cytogenet Cell Genet 58 : 1954. 1991
37CRYAB
Human alpha-B-crystallin (CRYA2) gene mapped to chromosome 11q12-q23.
Brakenhoff RH, et al.
Hum Genet 85 : 237-240. 1990
38CRYGS, CRYAB
GS(gamma-S)-crystallin (CRYGS) assignment to chromosome 3.
Wijnen JT, et al.
(HGM10) Cytogenet Cell Genet 51 : 1108. 1989
39CRYAB
Assignment of the alpha-B-crystallin gene to human chromosome 11.
Ngo JT, et al.
Genomics 5 : 665-669. 1989
40CRYAA,CRYAB,HSPBL1,HSPBL2,HSPBL3,HSPB1,HSPB2,HSPB3,HSPB7
Sequence and organization of genes encoding the human 27 kDa heat shock protein.
Hickey E, Brandon SE, Potter R, Stein G, Stein J, Weber LA.
Nucleic Acids Res 14(10):4127-45 1986